[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=3216866 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Joseph D.R.,
Sar M.,
Tan J.,
Higgs H.N.,
Larson R.E.,
French F.S.,
Wilson E.M.;
"The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate.";
Mol. Endocrinol. 2:1265-1275(1988).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT AIS MET-866.
DOI=10.1073/pnas.86.23.9534; PubMed=2594783 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Brown T.R.,
Simental J.A.,
Higgs H.N.,
Migeon C.J.,
Wilson E.M.,
French F.S.;
"Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.";
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=2342476 [NCBI, ExPASy, EBI, Israel, Japan]
Govindan M.V.;
"Specific region in hormone binding domain is essential for hormone binding and trans-activation by human androgen receptor.";
Mol. Endocrinol. 4:417-427(1990).
|
[4]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Prostate;
DOI=10.1073/pnas.85.19.7211; PubMed=3174628 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.,
Kokontis J.,
Liao S.;
"Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors.";
Proc. Natl. Acad. Sci. U.S.A. 85:7211-7215(1988).
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Prostate;
DOI=10.1073/pnas.86.1.327; PubMed=2911578 [NCBI, ExPASy, EBI, Israel, Japan]
Tilley W.D.,
Marcelli M.,
Wilson J.D.,
McPhaul M.J.;
"Characterization and expression of a cDNA encoding the human androgen receptor.";
Proc. Natl. Acad. Sci. U.S.A. 86:327-331(1989).
|
[6]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Prostate;
PubMed=2293020 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Tilley W.D.,
Wilson C.M.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.";
Mol. Endocrinol. 4:1105-1116(1990).
|
[7]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
DOI=10.1111/j.1432-1033.2004.04395.x; PubMed=15634333 [NCBI, ExPASy, EBI, Israel, Japan]
Ahrens-Fath I.,
Politz O.,
Geserick C.,
Haendler B.;
"Androgen receptor function is modulated by the tissue-specific AR45 variant.";
FEBS J. 272:74-84(2005).
|
[8]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
|
[9]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
|
[10]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND POLYMORPHISM OF POLY-GLY REGION.
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[11]
|
NUCLEOTIDE SEQUENCE OF 1-57; 59-448 AND 457-538.
DOI=10.1016/0303-7207(89)90137-8; PubMed=2917688 [NCBI, ExPASy, EBI, Israel, Japan]
Faber P.W.,
Kuiper G.G.,
van Rooij H.C.,
van der Korput J.A.,
Brinkmann A.O.,
Trapman J.;
"The N-terminal domain of the human androgen receptor is encoded by one, large exon.";
Mol. Cell. Endocrinol. 61:257-262(1989).
|
[12]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 189-919.
DOI=10.1126/science.3353726; PubMed=3353726 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.,
Kokontis J.,
Liao S.;
"Molecular cloning of human and rat complementary DNA encoding androgen receptors.";
Science 240:324-326(1988).
|
[13]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 468-919.
DOI=10.1016/S0006-291X(88)81214-2; PubMed=3377788 [NCBI, ExPASy, EBI, Israel, Japan]
Trapman J.,
Klaassen P.,
Kuiper G.G.J.M.,
van der Korput J.A.G.M.,
Faber P.W.,
van Rooij H.C.J.,
Geurts van Kessel A.,
Voorhorst M.M.,
Mulder E.,
Brinkmann A.O.;
"Cloning, structure and expression of a cDNA encoding the human androgen receptor.";
Biochem. Biophys. Res. Commun. 153:241-248(1988).
|
[14]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 536-540; 587-591; 626-630; 722-726; 770-774; 814-817 AND 866-870.
PubMed=2546571 [NCBI, ExPASy, EBI, Israel, Japan]
Kuiper G.G.,
Faber P.W.,
van Rooij H.C.,
van der Korput J.A.,
Ris-Stalpers C.,
Klaassen P.,
Trapman J.,
Brinkmann A.O.;
"Structural organization of the human androgen receptor gene.";
J. Mol. Endocrinol. 2:R1-R4(1989).
|
[15]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 559-624.
DOI=10.1126/science.3353727; PubMed=3353727 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Joseph D.R.,
Sullivan P.M.,
Willard H.F.,
French F.S.,
Wilson E.M.;
"Cloning of human androgen receptor complementary DNA and localization to the X chromosome.";
Science 240:327-330(1988).
|
[16]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 629-723, AND VARIANTS AIS ASN-695 AND HIS-695.
PubMed=1775137 [NCBI, ExPASy, EBI, Israel, Japan]
Ris-Stalpers C.,
Trifiro M.A.,
Kuiper G.G.J.M.,
Jenster G.,
Romalo G.,
Sai T.,
van Rooij H.C.J.,
Kaufman M.,
Rosenfield R.L.,
Liao S.,
Schweikert H.-U.,
Trapman J.,
Pinsky L.,
Brinkmann A.O.;
"Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics.";
Mol. Endocrinol. 5:1562-1569(1991).
|
[17]
|
POLYMORPHISM OF POLY-GLN REGION.
DOI=10.1093/nar/20.6.1427-a; PubMed=1561105 [NCBI, ExPASy, EBI, Israel, Japan]
Sleddens H.F.B.M.,
Oostra B.A.,
Brinkmann A.O.,
Trapman J.;
"Trinucleotide repeat polymorphism in the androgen receptor gene (AR).";
Nucleic Acids Res. 20:1427-1427(1992).
|
[18]
|
POLYMORPHISM OF POLY-GLY REGION.
TISSUE=Blood;
Lu J.,
Danielsen M.;
Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases.
|
[19]
|
POLYMORPHISM OF POLY-GLN REGION.
DOI=10.1073/pnas.94.7.3320; PubMed=9096391 [NCBI, ExPASy, EBI, Israel, Japan]
Giovannucci E.,
Stampfer M.J.,
Krithivas K.,
Brown M.,
Dahl D.,
Brufsky A.,
Talcott J.,
Hennekens C.H.,
Kantoff P.W.;
"The CAG repeat within the androgen receptor gene and its relationship to prostate cancer.";
Proc. Natl. Acad. Sci. U.S.A. 94:3320-3323(1997).
|
[20]
|
ERRATUM.
Giovannucci E.,
Stampfer M.J.,
Krithivas K.,
Brown M.,
Dahl D.,
Brufsky A.,
Talcott J.,
Hennekens C.H.,
Kantoff P.W.;
Proc. Natl. Acad. Sci. U.S.A. 94:8272-8272(1997).
|
[21]
|
INTERACTION WITH PQBP1.
TISSUE=Brain;
DOI=10.1093/hmg/8.6.977; PubMed=10332029 [NCBI, ExPASy, EBI, Israel, Japan]
Waragai M.,
Lammers C.-H.,
Takeuchi S.,
Imafuku I.,
Udagawa Y.,
Kanazawa I.,
Kawabata M.,
Mouradian M.M.,
Okazawa H.;
"PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival.";
Hum. Mol. Genet. 8:977-987(1999).
|
[22]
|
INTERACTION WITH TGFB1I1.
DOI=10.1074/jbc.274.12.8316; PubMed=10075738 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimoto N.,
Yeh S.,
Kang H.-Y.,
Inui S.,
Chang H.-C.,
Mizokami A.,
Chang C.;
"Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate.";
J. Biol. Chem. 274:8316-8321(1999).
|
[23]
|
INTERACTION WITH UBE2I.
DOI=10.1074/jbc.274.27.19441; PubMed=10383460 [NCBI, ExPASy, EBI, Israel, Japan]
Poukka H.,
Aarnisalo P.,
Karvonen U.,
Palvimo J.J.,
Jaenne O.A.;
"Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription.";
J. Biol. Chem. 274:19441-19446(1999).
|
[24]
|
INTERACTION WITH RAN.
DOI=10.1074/jbc.274.29.20229; PubMed=10400640 [NCBI, ExPASy, EBI, Israel, Japan]
Hsiao P.-W.,
Lin D.-L.,
Nakao R.,
Chang C.;
"The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator.";
J. Biol. Chem. 274:20229-20234(1999).
|
[25]
|
INTERACTION WITH SPDEF.
DOI=10.1074/jbc.275.2.1216; PubMed=10625666 [NCBI, ExPASy, EBI, Israel, Japan]
Oettgen P.,
Finger E.,
Sun Z.,
Akbarali Y.,
Thamrongsak U.,
Boltax J.,
Grall F.,
Dube A.,
Weiss A.,
Brown L.,
Quinn G.,
Kas K.,
Endress G.,
Kunsch C.,
Libermann T.A.;
"PDEF, a novel prostate epithelium-specific ets transcription factor, interacts with the androgen receptor and activates prostate-specific antigen gene expression.";
J. Biol. Chem. 275:1216-1225(2000).
|
[26]
|
INTERACTION WITH MYST2.
DOI=10.1074/jbc.M004838200; PubMed=10930412 [NCBI, ExPASy, EBI, Israel, Japan]
Sharma M.,
Zarnegar M.,
Li X.,
Lim B.,
Sun Z.;
"Androgen receptor interacts with a novel MYST protein, HBO1.";
J. Biol. Chem. 275:35200-35208(2000).
|
[27]
|
SUMOYLATION AT LYS-386 AND LYS-520.
DOI=10.1073/pnas.97.26.14145; PubMed=11121022 [NCBI, ExPASy, EBI, Israel, Japan]
Poukka H.,
Karvonen U.,
Jaenne O.A.,
Palvimo J.J.;
"Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).";
Proc. Natl. Acad. Sci. U.S.A. 97:14145-14150(2000).
|
[28]
|
INTERACTION WITH RANBP9.
DOI=10.1074/jbc.M209741200; PubMed=12361945 [NCBI, ExPASy, EBI, Israel, Japan]
Rao M.A.,
Cheng H.,
Quayle A.N.,
Nishitani H.,
Nelson C.C.,
Rennie P.S.;
"RanBPM, a nuclear protein that interacts with and regulates transcriptional activity of androgen receptor and glucocorticoid receptor.";
J. Biol. Chem. 277:48020-48027(2002).
|
[29]
|
INTERACTION WITH PELP1.
DOI=10.1073/pnas.192569699; PubMed=12415108 [NCBI, ExPASy, EBI, Israel, Japan]
Wong C.-W.,
McNally C.,
Nickbarg E.,
Komm B.S.,
Cheskis B.J.;
"Estrogen receptor-interacting protein that modulates its nongenomic activity-crosstalk with Src/Erk phosphorylation cascade.";
Proc. Natl. Acad. Sci. U.S.A. 99:14783-14788(2002).
|
[30]
|
INTERACTION WITH ZMIZ1.
DOI=10.1093/emboj/cdg585; PubMed=14609956 [NCBI, ExPASy, EBI, Israel, Japan]
Sharma M.,
Li X.,
Wang Y.,
Zarnegar M.,
Huang C.-Y.,
Palvimo J.J.,
Lim B.,
Sun Z.;
"hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci.";
EMBO J. 22:6101-6114(2003).
|
[31]
|
FUNCTION, AND INTERACTION WITH RBAK.
DOI=10.1677/jme.0.0310583; PubMed=14664718 [NCBI, ExPASy, EBI, Israel, Japan]
Hofman K.,
Swinnen J.V.,
Claessens F.,
Verhoeven G.,
Heyns W.;
"The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity.";
J. Mol. Endocrinol. 31:583-596(2003).
|
[32]
|
INTERACTION WITH EFCAB6.
PubMed=12612053 [NCBI, ExPASy, EBI, Israel, Japan]
Niki T.,
Takahashi-Niki K.,
Taira T.,
Iguchi-Ariga S.M.M.,
Ariga H.;
"DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex.";
Mol. Cancer Res. 1:247-261(2003).
|
[33]
|
INTERACTION WITH HIP1.
DOI=10.1083/jcb.200503106; PubMed=16027218 [NCBI, ExPASy, EBI, Israel, Japan]
Mills I.G.,
Gaughan L.,
Robson C.,
Ross T.,
McCracken S.,
Kelly J.,
Neal D.E.;
"Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors.";
J. Cell Biol. 170:191-200(2005).
|
[34]
|
INTERACTION WITH ZMIZ2.
DOI=10.1210/me.2005-0097; PubMed=16051670 [NCBI, ExPASy, EBI, Israel, Japan]
Huang C.-Y.,
Beliakoff J.,
Li X.,
Lee J.,
Li X.,
Sharma M.,
Lim B.,
Sun Z.;
"hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes.";
Mol. Endocrinol. 19:2915-2929(2005).
|
[35]
|
PHOSPHORYLATION AT TYR-223; TYR-267; TYR-307; TYR-346; TYR-357; TYR-362; TYR-363; TYR-393; TYR-534; TYR-551 AND TYR-915, MUTAGENESIS OF TYR-223; TYR-267; TYR-307; TYR-346; TYR-357; TYR-362; TYR-363; TYR-393; TYR-534; TYR-551 AND TYR-915, AND MASS SPECTROMETRY.
DOI=10.1016/j.ccr.2006.08.021; PubMed=17045208 [NCBI, ExPASy, EBI, Israel, Japan]
Guo Z.,
Dai B.,
Jiang T.,
Xu K.,
Xie Y.,
Kim O.,
Nesheiwat I.,
Kong X.,
Melamed J.,
Handratta V.D.,
Njar V.C.,
Brodie A.M.,
Yu L.-R.,
Veenstra T.D.,
Chen H.,
Qiu Y.;
"Regulation of androgen receptor activity by tyrosine phosphorylation.";
Cancer Cell 10:309-319(2006).
|
[36]
|
ERRATUM.
Guo Z.,
Dai B.,
Jiang T.,
Xu K.,
Xie Y.,
Kim O.,
Nesheiwat I.,
Kong X.,
Melamed J.,
Handratta V.D.,
Njar V.C.,
Brodie A.M.,
Yu L.-R.,
Veenstra T.D.,
Chen H.,
Qiu Y.;
Cancer Cell 11:97-97(2007).
|
[37]
|
INTERACTION WITH RREB1.
DOI=10.1210/me.2006-0503; PubMed=17550981 [NCBI, ExPASy, EBI, Israel, Japan]
Mukhopadhyay N.K.,
Cinar B.,
Mukhopadhyay L.,
Lutchman M.,
Ferdinand A.S.,
Kim J.,
Chung L.W.K.,
Adam R.M.,
Ray S.K.,
Leiter A.B.,
Richie J.P.,
Liu B.C.-S.,
Freeman M.R.;
"The zinc finger protein Ras-responsive element binding protein-1 is a coregulator of the androgen receptor: implications for the role of the Ras pathway in enhancing androgenic signaling in prostate cancer.";
Mol. Endocrinol. 21:2056-2070(2007).
|
[38]
|
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 657-919.
DOI=10.1074/jbc.M004571200; PubMed=10840043 [NCBI, ExPASy, EBI, Israel, Japan]
Matias P.M.,
Donner P.,
Coelho R.,
Thomaz M.,
Peixoto C.,
Macedo S.,
Otto N.,
Joschko S.,
Scholz P.,
Wegg A.,
Baesler S.,
Schaefer M.,
Egner U.,
Carrondo M.A.;
"Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations.";
J. Biol. Chem. 275:26164-26171(2000).
|
[39]
|
X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 670-917.
DOI=10.1021/jm011072j; PubMed=11906285 [NCBI, ExPASy, EBI, Israel, Japan]
Matias P.M.,
Carrondo M.A.,
Coelho R.,
Thomaz M.,
Zhao X.Y.,
Wegg A.,
Crusius K.,
Egner U.,
Donner P.;
"Structural basis for the glucocorticoid response in a mutant human androgen receptor (AR(ccr)) derived from an androgen-independent prostate cancer.";
J. Med. Chem. 45:1439-1446(2002).
|
[40]
|
X-RAY CRYSTALLOGRAPHY (1.89 ANGSTROMS) OF 671-919 IN COMPLEXES WITH N-TERMINAL MODULATING DOMAIN AND NCOA2, INTERACTION WITH NCOA1, AND CHARACTERIZATION OF VARIANT PROSTATE CANCER M-730.
DOI=10.1016/j.molcel.2004.09.036; PubMed=15525515 [NCBI, ExPASy, EBI, Israel, Japan]
He B.,
Gampe R.T. Jr.,
Kole A.J.,
Hnat A.T.,
Stanley T.B.,
An G.,
Stewart E.L.,
Kalman R.I.,
Minges J.T.,
Wilson E.M.;
"Structural basis for androgen receptor interdomain and coactivator interactions suggests a transition in nuclear receptor activation function dominance.";
Mol. Cell 16:425-438(2004).
|
[41]
|
X-RAY CRYSTALLOGRAPHY (1.66 ANGSTROMS) OF 669-919 IN COMPLEXES WITH DIHYDROTESTOSTERONE AND NCOA1; NCOA2; NCOA3 AND NCOA4, FUNCTION, INTERACTION WITH NCOA1; NCOA2; NCOA3 AND NCOA4, AND MUTAGENESIS OF LYS-720 AND GLU-897.
DOI=10.1074/jbc.M407046200; PubMed=15563469 [NCBI, ExPASy, EBI, Israel, Japan]
Estebanez-Perpina E.,
Moore J.M.R.,
Mar E.,
Delgado-Rodrigues E.,
Nguyen P.,
Baxter J.D.,
Buehrer B.M.,
Webb P.,
Fletterick R.J.,
Guy R.K.;
"The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor.";
J. Biol. Chem. 280:8060-8068(2005).
|
[42]
|
X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 664-919 IN COMPLEXES WITH NONSTEROIDAL LIGANDS, MUTAGENESIS OF TRP-741, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-877, AND CHARACTERIZATION OF VARIANT AIS THR-895.
DOI=10.1074/jbc.M507464200; PubMed=16129672 [NCBI, ExPASy, EBI, Israel, Japan]
Bohl C.E.,
Miller D.D.,
Chen J.,
Bell C.E.,
Dalton J.T.;
"Structural basis for accommodation of nonsteroidal ligands in the androgen receptor.";
J. Biol. Chem. 280:37747-37754(2005).
|
[43]
|
X-RAY CRYSTALLOGRAPHY (1.64 ANGSTROMS) OF 654-919 IN COMPLEXES WITH TESTOSTERONE; DIHYDROTESTOSTERONE AND TETRAHYDROGESTRINONE.
DOI=10.1110/ps.051905906; PubMed=16641486 [NCBI, ExPASy, EBI, Israel, Japan]
Pereira de Jesus-Tran K.,
Cote P.-L.,
Cantin L.,
Blanchet J.,
Labrie F.,
Breton R.;
"Comparison of crystal structures of human androgen receptor ligand-binding domain complexed with various agonists reveals molecular determinants responsible for binding affinity.";
Protein Sci. 15:987-999(2006).
|
[44]
|
X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 671-918 IN COMPLEX WITH NR0B2.
DOI=10.1107/S0907444907045702; PubMed=18007036 [NCBI, ExPASy, EBI, Israel, Japan]
Jouravel N.,
Sablin E.,
Arnold L.A.,
Guy R.K.,
Fletterick R.J.;
"Interaction between the androgen receptor and a segment of its corepressor SHP.";
Acta Crystallogr. D 63:1198-1200(2007).
|
[45]
|
X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 671-919 OF MUTANT ALA-877 IN COMPLEX WITH THE ANTIANDROGEN CYPROTERONE ACETATE, CHARACTERIZATION OF VARIANT PROSTATE CANCER ALA-877, AND MUTAGENESIS OF LEU-701.
DOI=10.1074/jbc.M611711200; PubMed=17311914 [NCBI, ExPASy, EBI, Israel, Japan]
Bohl C.E.,
Wu Z.,
Miller D.D.,
Bell C.E.,
Dalton J.T.;
"Crystal structure of the T877A human androgen receptor ligand-binding domain complexed to cyproterone acetate provides insight for ligand-induced conformational changes and structure-based drug design.";
J. Biol. Chem. 282:13648-13655(2007).
|
[46]
|
X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 663-919 OF WILD-TYPE AND MUTANT TYR-874 IN COMPLEX WITH TESTOSTERONE AND NCOA2, ACTIVATION BY THE N-TERMINAL MODULATING DOMAIN, INTERACTION WITH NCOA2 AND MAGEA11, FUNCTION, MUTAGENESIS OF LYS-720 AND GLU-897, AND CHARACTERIZATION OF VARIANT PROSTATE CANCER TYR-874.
DOI=10.1074/jbc.M703268200; PubMed=17591767 [NCBI, ExPASy, EBI, Israel, Japan]
Askew E.B.,
Gampe R.T. Jr.,
Stanley T.B.,
Faggart J.L.,
Wilson E.M.;
"Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone.";
J. Biol. Chem. 282:25801-25816(2007).
|
[47]
|
X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 654-919 IN COMPLEX WITH EM5744.
DOI=10.1074/jbc.M705524200; PubMed=17711855 [NCBI, ExPASy, EBI, Israel, Japan]
Cantin L.,
Faucher F.,
Couture J.-F.,
de Jesus-Tran K.P.,
Legrand P.,
Ciobanu L.C.,
Frechette Y.,
Labrecque R.,
Singh S.M.,
Labrie F.,
Breton R.;
"Structural characterization of the human androgen receptor ligand-binding domain complexed with EM5744, a rationally designed steroidal ligand bearing a bulky chain directed toward helix 12.";
J. Biol. Chem. 282:30910-30919(2007).
|
[48]
|
X-RAY CRYSTALLOGRAPHY (1.76 ANGSTROMS) OF 669-919 IN COMPLEXES WITH SYNTHETIC LIGANDS, FUNCTION, AND INTERACTION WITH NCOA2.
DOI=10.1073/pnas.0708036104; PubMed=17911242 [NCBI, ExPASy, EBI, Israel, Japan]
Estebanez-Perpina E.,
Arnold L.A.,
Nguyen P.,
Rodrigues E.D.,
Mar E.,
Bateman R.,
Pallai P.,
Shokat K.M.,
Baxter J.D.,
Guy R.K.,
Webb P.,
Fletterick R.J.;
"A surface on the androgen receptor that allosterically regulates coactivator binding.";
Proc. Natl. Acad. Sci. U.S.A. 104:16074-16079(2007).
|
[49]
|
REVIEW ON VARIANTS.
PubMed=1458719 [NCBI, ExPASy, EBI, Israel, Japan]
Pinsky L.,
Trifiro M.A.,
Kaufman M.,
Beitel L.K.,
Mhatre A.,
Kazemi-Esfarjani P.,
Sabbaghian N.,
Lumbroso R.,
Alvarado C.,
Vasiliou M.,
Gottlieb B.;
"Androgen resistance due to mutation of the androgen receptor.";
Clin. Invest. Med. 15:456-472(1992).
|
[50]
|
REVIEW ON VARIANTS AIS.
DOI=10.1007/BF02125442; PubMed=8339746 [NCBI, ExPASy, EBI, Israel, Japan]
Brown T.R.,
Scherer P.A.,
Chang Y.-T.,
Migeon C.J.,
Ghirri P.,
Murono K.,
Zhou Z.;
"Molecular genetics of human androgen insensitivity.";
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993).
|
[51]
|
REVIEW ON VARIANTS.
DOI=10.1016/0960-0760(93)90178-Y; PubMed=8240973 [NCBI, ExPASy, EBI, Israel, Japan]
Sultan C.,
Lumbroso S.,
Poujol N.,
Belon C.,
Boudon C.,
Lobaccaro J.-M.;
"Mutations of androgen receptor gene in androgen insensitivity syndromes.";
J. Steroid Biochem. Mol. Biol. 46:519-530(1993).
|
[52]
|
REVIEW ON VARIANTS.
PubMed=7937057 [NCBI, ExPASy, EBI, Israel, Japan]
Patterson M.N.,
Hughes I.A.,
Gottlieb B.,
Pinsky L.;
"The androgen receptor gene mutations database.";
Nucleic Acids Res. 22:3560-3562(1994).
|
[53]
|
REVIEW ON VARIANTS.
DOI=10.1016/0960-0760(95)00090-M; PubMed=7626493 [NCBI, ExPASy, EBI, Israel, Japan]
Brinkmann A.O.,
Jenster G.,
Ris-Stalpers C.,
van der Korput J.A.G.M.,
Bruggenwirth H.T.,
Boehmer A.L.M.,
Trapman J.;
"Androgen receptor mutations.";
J. Steroid Biochem. Mol. Biol. 53:443-448(1995).
|
[54]
|
REVIEW ON VARIANTS.
DOI=10.1093/nar/25.1.158; PubMed=9016528 [NCBI, ExPASy, EBI, Israel, Japan]
Gottlieb B.,
Trifiro M.A.,
Lumbroso R.,
Vasiliou D.M.,
Pinsky L.;
"The androgen receptor gene mutations database.";
Nucleic Acids Res. 25:158-162(1997).
|
[55]
|
VARIANT LNCAP ALA-877.
DOI=10.1016/S0006-291X(05)80067-1; PubMed=2260966 [NCBI, ExPASy, EBI, Israel, Japan]
Veldscholte J.,
Ris-Stalpers C.,
Kuiper G.G.J.M.,
Jenster G.,
Berrevoets C.A.,
Claassen E.,
van Rooij H.C.J.,
Trapman J.,
Brinkmann A.O.,
Mulder E.;
"A mutation in the ligand binding domain of the androgen receptor of human LNCaP cells affects steroid binding characteristics and response to anti-androgens.";
Biochem. Biophys. Res. Commun. 173:534-540(1990).
|
[56]
|
VARIANTS AIS CYS-774; GLN-831 AND MET-866.
PubMed=2082179 [NCBI, ExPASy, EBI, Israel, Japan]
Brown T.R.,
Lubahn D.B.,
Wilson E.M.,
French F.S.,
Migeon C.J.,
Corfen J.L.;
"Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.";
Mol. Endocrinol. 4:1759-1772(1990).
|
[57]
|
VARIANT CYS-774.
PubMed=1856263 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Tilley W.D.,
Zoppi S.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg-->Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.";
J. Clin. Endocrinol. Metab. 73:318-325(1991).
|
[58]
|
VARIANT AIS PRO-617.
PubMed=1999491 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Zoppi S.,
Grino P.B.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.";
J. Clin. Invest. 87:1123-1126(1991).
|
[59]
|
VARIANT PAIS CYS-763.
PubMed=2010552 [NCBI, ExPASy, EBI, Israel, Japan]
McPhaul M.J.,
Marcelli M.,
Tilley W.D.,
Griffin J.E.,
Isidro-Gutierrez R.F.,
Wilson J.D.;
"Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.";
J. Clin. Invest. 87:1413-1421(1991).
|
[60]
|
POLY-GLN REGION EXPANSION, AND INVOLVEMENT IN SPINAL AND BULBAR MUSCULAR ATROPHY.
DOI=10.1038/352077a0; PubMed=2062380 [NCBI, ExPASy, EBI, Israel, Japan]
la Spada A.R.,
Wilson E.M.,
Lubahn D.B.,
Harding A.E.,
Fischbeck K.H.;
"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.";
Nature 352:77-79(1991).
|
[61]
|
VARIANTS AIS CYS-774 AND HIS-774.
PubMed=1609793 [NCBI, ExPASy, EBI, Israel, Japan]
Prior L.,
Bordet S.,
Trifiro M.A.,
Mhatre A.,
Kaufman M.,
Pinsky L.,
Wrogemann K.,
Belsham D.D.,
Pereira F.,
Greenberg C.R.,
Trapman J.,
Brinkmann A.O.,
Chang C.,
Liao S.;
"Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.";
Am. J. Hum. Genet. 51:143-155(1992).
|
[62]
|
VARIANTS PAIS LYS-608 AND LEU-866.
DOI=10.1111/j.1365-2265.1992.tb02313.x; PubMed=1424203 [NCBI, ExPASy, EBI, Israel, Japan]
Saunders P.T.,
Padayachi T.,
Tincello D.G.,
Shalet S.M.,
Wu F.C.;
"Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.";
Clin. Endocrinol. (Oxf.) 37:214-220(1992).
|
[63]
|
VARIANT AIS THR-765.
PubMed=1426313 [NCBI, ExPASy, EBI, Israel, Japan]
Sweet C.R.,
Behzadian M.A.,
McDonough P.G.;
"A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome.";
Fertil. Steril. 58:703-707(1992).
|
[64]
|
VARIANT AIS VAL-749.
DOI=10.1007/BF00220088; PubMed=1487249 [NCBI, ExPASy, EBI, Israel, Japan]
Jakubiczka S.,
Werder E.A.,
Wieacker P.;
"Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).";
Hum. Genet. 90:311-312(1992).
|
[65]
|
VARIANTS AIS, AND VARIANTS PAIS.
DOI=10.1093/hmg/1.7.497; PubMed=1307250 [NCBI, ExPASy, EBI, Israel, Japan]
Batch J.A.,
Williams D.M.,
Davies H.R.,
Brown B.D.,
Evans B.A.J.,
Hughes I.A.,
Patterson M.N.;
"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.";
Hum. Mol. Genet. 1:497-503(1992).
|
[66]
|
VARIANT AIS VAL-787.
DOI=10.1210/jc.74.5.1152; PubMed=1569163 [NCBI, ExPASy, EBI, Israel, Japan]
Nakao R.,
Haji M.,
Yanase T.,
Ogo A.,
Takayanagi R.,
Katsube T.,
Fukumaki Y.,
Nawata H.;
"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 74:1152-1157(1992).
|
[67]
|
VARIANTS AIS ARG-741 AND CYS-834.
DOI=10.1210/jc.75.6.1474; PubMed=1464650 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson C.M.,
Griffin J.E.,
Wilson J.D.,
Marcelli M.,
Zoppi S.,
McPhaul M.J.;
"Immunoreactive androgen receptor expression in subjects with androgen resistance.";
J. Clin. Endocrinol. Metab. 75:1474-1478(1992).
|
[68]
|
VARIANTS AIS, AND VARIANTS PAIS.
PubMed=1430233 [NCBI, ExPASy, EBI, Israel, Japan]
McPhaul M.J.,
Marcelli M.,
Zoppi S.,
Wilson C.M.,
Griffin J.E.,
Wilson J.D.;
"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.";
J. Clin. Invest. 90:2097-2101(1992).
|
[69]
|
VARIANT PROSTATE CANCER ALA-877.
DOI=10.1016/0960-0760(92)90401-4; PubMed=1562539 [NCBI, ExPASy, EBI, Israel, Japan]
Veldscholte J.,
Berrevoets C.A.,
Ris-Stalpers C.,
Kuiper G.G.J.M.,
Jenster G.,
Trapman J.,
Brinkmann A.O.,
Mulder E.;
"The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens.";
J. Steroid Biochem. Mol. Biol. 41:665-669(1992).
|
[70]
|
VARIANTS AIS TYR-559 AND ARG-576, AND VARIANTS PAIS GLY-597 AND PRO-617.
DOI=10.1210/me.6.3.409; PubMed=1316540 [NCBI, ExPASy, EBI, Israel, Japan]
Zoppi S.,
Marcelli M.,
Deslypere J.-P.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.";
Mol. Endocrinol. 6:409-415(1992).
|
[71]
|
VARIANTS AIS SER-705; VAL-749; PHE-759; HIS-774; CYS-855 AND GLY-864.
DOI=10.1210/me.6.11.1909; PubMed=1480178 [NCBI, ExPASy, EBI, Israel, Japan]
De Bellis A.,
Quigley C.A.,
Cariello N.F.,
el-Awady M.K.,
Sar M.,
Lane M.V.,
Wilson E.M.,
French F.S.;
"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.";
Mol. Endocrinol. 6:1909-1920(1992).
|
[72]
|
VARIANT PAIS/BREAST CANCER GLN-607.
DOI=10.1038/ng1092-132; PubMed=1303262 [NCBI, ExPASy, EBI, Israel, Japan]
Wooster R.,
Mangion J.,
Eeles R.,
Smith S.,
Dowsett M.,
Averill D.,
Barrett-Lee P.,
Easton D.F.,
Ponder B.A.,
Stratton M.R.;
"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.";
Nat. Genet. 2:132-134(1992).
|
[73]
|
VARIANT MET-730.
DOI=10.1073/pnas.89.14.6319; PubMed=1631125 [NCBI, ExPASy, EBI, Israel, Japan]
Newmark J.R.,
Hardy D.O.,
Tonb D.C.,
Carter B.S.,
Epstein J.I.,
Isaacs W.B.,
Brown T.R.,
Barrack E.R.;
"Androgen receptor gene mutations in human prostate cancer.";
Proc. Natl. Acad. Sci. U.S.A. 89:6319-6323(1992).
|
[74]
|
VARIANTS ARG-205 AND ASP-793.
PubMed=8213813 [NCBI, ExPASy, EBI, Israel, Japan]
Macke J.P.,
Hu N.,
Hu S.,
Bailey M.,
King V.L.,
Brown T.,
Hamer D.,
Nathans J.;
"Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation.";
Am. J. Hum. Genet. 53:844-852(1993).
|
[75]
|
VARIANT AIS PHE-581.
PubMed=8224266 [NCBI, ExPASy, EBI, Israel, Japan]
Lumbroso S.,
Lobaccaro J.-M.,
Belon C.,
Martin D.,
Chaussain J.-L.,
Sultan C.;
"A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.";
Fertil. Steril. 60:814-819(1993).
|
[76]
|
VARIANT AIS VAL-754.
DOI=10.1093/hmg/2.7.1041; PubMed=8103398 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Ktari R.,
Dumas R.,
Sultan C.;
"An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome.";
Hum. Mol. Genet. 2:1041-1043(1993).
|
[77]
|
VARIANT PAIS/BREAST CANCER LYS-608.
DOI=10.1093/hmg/2.11.1799; PubMed=8281139 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Belon C.,
Galtier-Dereure F.,
Bringer J.,
Lesimple T.,
Namer M.,
Cutuli B.F.,
Pujol H.,
Sultan C.;
"Androgen receptor gene mutation in male breast cancer.";
Hum. Mol. Genet. 2:1799-1802(1993).
|
[78]
|
VARIANT AIS ARG-807.
DOI=10.1093/hmg/2.11.1809; PubMed=8281140 [NCBI, ExPASy, EBI, Israel, Japan]
Adeyemo O.,
Kallio P.J.,
Palvimo J.J.,
Kontula K.,
Jaenne O.A.;
"A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.";
Hum. Mol. Genet. 2:1809-1812(1993).
|
[79]
|
VARIANT PAIS VAL-743.
DOI=10.1210/jc.77.1.103; PubMed=8325932 [NCBI, ExPASy, EBI, Israel, Japan]
Nakao R.,
Yanase T.,
Sakai Y.,
Haji M.,
Nawata H.;
"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.";
J. Clin. Endocrinol. Metab. 77:103-107(1993).
|
[80]
|
VARIANTS AIS LYS-681 AND THR-842, AND VARIANTS PAIS HIS-840 AND LEU-866.
DOI=10.1210/jc.77.1.262; PubMed=8325950 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Huang Q.,
Sinnecker G.H.,
Sadeghi-Nejad A.,
Kruse K.,
Wolfe H.J.,
Yandell D.W.;
"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.";
J. Clin. Endocrinol. Metab. 77:262-266(1993).
|
[81]
|
VARIANTS PAIS HIS-855 AND MET-869.
PubMed=8097257 [NCBI, ExPASy, EBI, Israel, Japan]
Batch J.A.,
Evans B.A.J.,
Hughes I.A.,
Patterson M.N.;
"Mutations of the androgen receptor gene identified in perineal hypospadias.";
J. Med. Genet. 30:198-201(1993).
|
[82]
|
VARIANT AIS VAL-743.
DOI=10.1016/0960-0760(93)90081-7; PubMed=8096390 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Berta P.,
Chaussain J.-L.,
Sultan C.;
"Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.";
J. Steroid Biochem. Mol. Biol. 44:211-216(1993).
|
[83]
|
VARIANTS PROSTATE CANCER HIS-701 AND ALA-877.
DOI=10.1016/0960-0760(93)90316-O; PubMed=8274409 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki H.,
Sato N.,
Watabe Y.,
Masai M.,
Seino S.,
Shimazaki J.;
"Androgen receptor gene mutations in human prostate cancer.";
J. Steroid Biochem. Mol. Biol. 46:759-765(1993).
|
[84]
|
VARIANT AIS MET-866, AND VARIANT PAIS LEU-866.
DOI=10.1210/me.7.1.37; PubMed=8446106 [NCBI, ExPASy, EBI, Israel, Japan]
Kazemi-Esfarjani P.,
Beitel L.K.,
Trifiro M.A.,
Kaufman M.,
Rennie P.,
Sheppard P.,
Matusik R.,
Pinsky L.;
"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.";
Mol. Endocrinol. 7:37-46(1993).
|
[85]
|
VARIANT AIS HIS-615.
DOI=10.1210/me.7.7.861; PubMed=8413310 [NCBI, ExPASy, EBI, Israel, Japan]
Mowszowicz I.,
Lee H.J.,
Chen H.T.,
Mestayer C.,
Portois M.C.,
Cabrol S.,
Mauvais-Jarvis P.,
Chang C.;
"A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance.";
Mol. Endocrinol. 7:861-869(1993).
|
[86]
|
VARIANT PROSTATE CANCER MET-715.
DOI=10.1210/me.7.12.1541; PubMed=8145761 [NCBI, ExPASy, EBI, Israel, Japan]
Culig Z.,
Hobisch A.,
Cronauer M.V.,
Cato A.C.B.,
Hittmair A.,
Radmayr C.,
Eberle J.,
Bartsch G.,
Klocker H.;
"Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone.";
Mol. Endocrinol. 7:1541-1550(1993).
|
[87]
|
VARIANTS AIS PHE-581; VAL-743; VAL-754; GLU-767 AND CYS-855.
Lobaccaro J.-M.,
Lumbroso S.,
Belon C.,
Chaussain J.L.,
Toublanc J.E.,
Leheup B.,
Sultan C.;
"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114).";
Pediatr. Res. Suppl. 33:S22-S22(1993).
|
[88]
|
VARIANTS PROSTATE CANCER LEU-340 AND GLU-798.
PubMed=7511268 [NCBI, ExPASy, EBI, Israel, Japan]
Castagnaro M.,
Yandell D.W.,
Dockhorn-Dworniczak B.,
Wolfe H.J.,
Poremba C.;
"Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer.";
Verh. Dtsch. Ges. Pathol. 77:119-123(1993).
|
[89]
|
POLY-GLN REGION CONTRACTION, AND INVOLVEMENT IN PROSTATE CANCER.
DOI=10.1006/bbrc.1994.1011; PubMed=8292051 [NCBI, ExPASy, EBI, Israel, Japan]
Schoenberg M.P.,
Hakimi J.M.,
Wang S.,
Bova G.S.,
Epstein J.I.,
Fischbeck K.H.,
Isaacs W.B.,
Walsh P.C.,
Barrack E.R.;
"Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.";
Biochem. Biophys. Res. Commun. 198:74-80(1994).
|
[90]
|
VARIANT PROSTATE CANCER ALA-877.
PubMed=8187068 [NCBI, ExPASy, EBI, Israel, Japan]
Gaddipati J.P.,
McLeod D.G.,
Heidenberg H.B.,
Sesterhenn I.A.,
Finger M.J.,
Moul J.W.,
Srivastava S.;
"Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers.";
Cancer Res. 54:2861-2864(1994).
|
[91]
|
VARIANT PAIS TRP-568.
PubMed=7910529 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Belon C.,
Lumbroso S.,
Olewniczack G.,
Carre-Pigeon F.,
Job J.C.,
Chaussain J.L.,
Toublanc J.E.,
Sultan C.;
"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene.";
Clin. Endocrinol. (Oxf.) 40:297-302(1994).
|
[92]
|
VARIANT PAIS HIS-840.
PubMed=7909256 [NCBI, ExPASy, EBI, Israel, Japan]
Lumbroso S.,
Lobaccaro J.-M.,
Belon C.,
Amram S.,
Bachelard B.,
Garandeau P.,
Sultan C.;
"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome).";
Eur. J. Endocrinol. 130:327-332(1994).
|
[93]
|
VARIANT PAIS HIS-840.
PubMed=8205256 [NCBI, ExPASy, EBI, Israel, Japan]
Imasaki K.,
Hasegawa T.,
Okabe T.,
Sakai Y.,
Haji M.,
Takayanagi R.,
Nawata H.;
"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.";
Eur. J. Endocrinol. 130:569-574(1994).
|
[94]
|
VARIANT PAIS VAL-870.
DOI=10.1007/s004310050143; PubMed=8033918 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Klauber G.,
Cendron M.,
Sinnecker G.H.,
Keim L.,
Schwinger E.,
Wolfe H.J.,
Yandell D.W.;
"Molecular characterization of the androgen receptor gene in boys with hypospadias.";
Eur. J. Pediatr. 153:317-321(1994).
|
[95]
|
VARIANT PAIS ASP-690 DEL.
Schwartz M.,
Skovby F.,
Mueller J.,
Nielsen O.,
Skakkebaek N.E.;
"Partial androgen insensitivity (PAIS) in a large eskimo kindred caused by a delD690 mutation in the androgen receptor (AR) gene (Abstract #244).";
Horm. Res. 41:117-117(1994).
|
[96]
|
VARIANTS AIS PHE-582 DEL; ARG-615 DEL AND HIS-615.
DOI=10.1093/hmg/3.1.21; PubMed=8162033 [NCBI, ExPASy, EBI, Israel, Japan]
Beitel L.K.,
Prior L.,
Vasiliou D.M.,
Gottlieb B.,
Kaufman M.,
Lumbroso R.,
Alvarado C.,
McGillivray B.,
Trifiro M.A.,
Pinsky L.;
"Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.";
Hum. Mol. Genet. 3:21-27(1994).
|
[97]
|
VARIANTS PAIS SER-582; TYR-604; ALA-708; LEU-754 AND HIS-771, AND VARIANT AIS TRP-779.
DOI=10.1093/hmg/3.7.1163; PubMed=7981687 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Wodtke A.,
Struve D.,
Zoellner A.,
Sinnecker G.H.;
"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.";
Hum. Mol. Genet. 3:1163-1166(1994).
|
[98]
|
VARIANT AIS PHE-601.
DOI=10.1093/hmg/3.7.1169; PubMed=7981689 [NCBI, ExPASy, EBI, Israel, Japan]
Baldazzi L.,
Baroncini C.,
Pirazzoli P.,
Balsamo A.,
Capelli M.,
Marchetti G.,
Bernardi F.,
Cacciari E.;
"Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.";
Hum. Mol. Genet. 3:1169-1170(1994).
|
[99]
|
VARIANTS PAIS ARG-616; HIS-840 AND MET-889.
DOI=10.1210/jc.78.3.513; PubMed=8126121 [NCBI, ExPASy, EBI, Israel, Japan]
De Bellis A.,
Quigley C.A.,
Marschke K.B.,
el-Awady M.K.,
Lane M.V.,
Smith E.P.,
Sar M.,
Wilson E.M.,
French F.S.;
"Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 78:513-522(1994).
|
[100]
|
VARIANT AIS PHE-790.
DOI=10.1210/jc.79.4.1202; PubMed=7962294 [NCBI, ExPASy, EBI, Israel, Japan]
Tsukada T.,
Inoue M.,
Tachibana S.,
Nakai Y.,
Takebe H.;
"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome.";
J. Clin. Endocrinol. Metab. 79:1202-1207(1994).
|
[101]
|
VARIANTS AIS CYS-840 AND HIS-840.
PubMed=8040309 [NCBI, ExPASy, EBI, Israel, Japan]
Beitel L.K.,
Kazemi-Esfarjani P.,
Kaufman M.,
Lumbroso R.,
DiGeorge A.M.,
Killinger D.W.,
Trifiro M.A.,
Pinsky L.;
"Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.";
J. Clin. Invest. 94:546-554(1994).
|
[102]
|
VARIANTS AIS, AND VARIANTS PAIS.
PubMed=7929841 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Zoppi S.,
Wilson C.M.,
Griffin J.E.,
McPhaul M.J.;
"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.";
J. Clin. Invest. 94:1642-1650(1994).
|
[103]
|
VARIANT AIS LYS-727.
DOI=10.1016/S0140-6736(94)92385-X; PubMed=7993455 [NCBI, ExPASy, EBI, Israel, Japan]
Yong E.L.,
Ng S.C.,
Roy A.C.,
Yun G.,
Ratnam S.S.;
"Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene.";
Lancet 344:826-827(1994).
|
[104]
|
VARIANTS AIS HIS-615 AND LEU-764, AND VARIANTS PAIS VAL-742 AND THR-745.
DOI=10.1203/00006450-199408000-00015; PubMed=7970939 [NCBI, ExPASy, EBI, Israel, Japan]
Ris-Stalpers C.,
Hoogenboezem T.,
Sleddens H.F.B.M.,
Verleun-Mooijman M.C.T.,
Degenhart H.J.,
Drop S.L.S.,
Halley D.J.J.,
Oosterwijk J.C.,
Hodgins M.B.,
Trapman J.,
Brinkmann A.O.;
"A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity.";
Pediatr. Res. 36:227-234(1994).
|
[105]
|
VARIANT AIS HIS-840.
PubMed=8830623 [NCBI, ExPASy, EBI, Israel, Japan]
Imai A.,
Ohno T.,
Iida K.,
Ohsuye K.,
Okano Y.,
Tamaya T.;
"A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form.";
Ann. Clin. Biochem. 32:482-486(1995).
|
[106]
|
VARIANTS PROSTATE CANCER.
PubMed=7712463 [NCBI, ExPASy, EBI, Israel, Japan]
Takahashi H.,
Furusato M.,
Allsbrook W.C. Jr.,
Nishii H.,
Wakui S.,
Barrett J.C.,
Boyd J.;
"Prevalence of androgen receptor gene mutations in latent prostatic carcinomas from Japanese men.";
Cancer Res. 55:1621-1624(1995).
|
[107]
|
VARIANT AIS VAL-881.
DOI=10.1111/j.1365-2265.1995.tb01895.x; PubMed=7641413 [NCBI, ExPASy, EBI, Israel, Japan]
Davies H.R.,
Hughes I.A.,
Patterson M.N.;
"Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene.";
Clin. Endocrinol. (Oxf.) 43:69-77(1995).
|
[108]
|
VARIANTS AIS SER-705 AND HIS-763, AND VARIANTS PAIS LEU-725; THR-737; HIS-774 AND GLU-798.
DOI=10.1210/er.16.3.271; PubMed=7671849 [NCBI, ExPASy, EBI, Israel, Japan]
Quigley C.A.,
De Bellis A.,
Marschke K.B.,
el-Awady M.K.,
Wilson E.M.,
French F.S.;
"Androgen receptor defects: historical, clinical, and molecular perspectives.";
Endocr. Rev. 16:271-321(1995).
|
[109]
|
ERRATUM.
Quigley C.A.,
De Bellis A.,
Marschke K.B.,
el-Awady M.K.,
Wilson E.M.,
French F.S.;
Endocr. Rev. 16:546-546(1995).
|
[110]
|
VARIANTS AIS LEU-831 AND GLN-831.
DOI=10.1093/hmg/4.4.515; PubMed=7633398 [NCBI, ExPASy, EBI, Israel, Japan]
Shkolny D.L.,
Brown T.R.,
Punnett H.H.,
Kaufman M.,
Trifiro M.A.,
Pinsky L.;
"Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families.";
Hum. Mol. Genet. 4:515-521(1995).
|
[111]
|
VARIANT AIS PRO-677.
DOI=10.1002/humu.1380050104; PubMed=7537149 [NCBI, ExPASy, EBI, Israel, Japan]
Belsham D.D.,
Pereira F.,
Greenberg C.R.,
Liao S.,
Wrogemann K.;
"Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.";
Hum. Mutat. 5:28-33(1995).
|
[112]
|
VARIANT PAIS CYS-763, AND VARIANTS AIS TRP-779; VAL-807 AND CYS-855.
DOI=10.1002/humu.1380060208; PubMed=7581399 [NCBI, ExPASy, EBI, Israel, Japan]
Murono K.,
Mendonca B.B.,
Arnhold I.J.P.,
Rigon A.C.M.M.,
Migeon C.J.,
Brown T.R.;
"Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.";
Hum. Mutat. 6:152-162(1995).
|
[113]
|
VARIANT PROSTATE CANCER MET-730.
DOI=10.1002/ijc.2910630415; PubMed=7591265 [NCBI, ExPASy, EBI, Israel, Japan]
Peterziel H.,
Culig Z.,
Stober J.,
Hobisch A.,
Radmayr C.,
Bartsch G.,
Klocker H.,
Cato A.C.B.;
"Mutant androgen receptors in prostatic tumors distinguish between amino-acid-sequence requirements for transactivation and ligand binding.";
Int. J. Cancer 63:544-550(1995).
|
[114]
|
VARIANT VAL-568.
DOI=10.1210/jc.80.9.2697; PubMed=7673412 [NCBI, ExPASy, EBI, Israel, Japan]
Allera A.,
Herbst M.A.,
Griffin J.E.,
Wilson J.D.,
Schweikert H.-U.,
McPhaul M.J.;
"Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias.";
J. Clin. Endocrinol. Metab. 80:2697-2699(1995).
|
[115]
|
VARIANT PROSTATE CANCER LEU-726.
DOI=10.1210/jc.80.12.3494; PubMed=8530589 [NCBI, ExPASy, EBI, Israel, Japan]
Elo J.P.,
Kvist L.,
Leinonen K.,
Isomaa V.,
Henttu P.,
Lukkarinen O.,
Vihko P.;
"Mutated human androgen receptor gene detected in a prostatic cancer patient is also activated by estradiol.";
J. Clin. Endocrinol. Metab. 80:3494-3500(1995).
|
[116]
|
VARIANT PAIS THR-596.
DOI=10.1016/0303-7207(95)03554-K; PubMed=7649358 [NCBI, ExPASy, EBI, Israel, Japan]
Gast A.,
Neuschmid-Kaspar F.,
Klocker H.,
Cato A.C.B.;
"A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.";
Mol. Cell. Endocrinol. 111:93-98(1995).
|
[117]
|
VARIANTS PROSTATE CANCER.
DOI=10.1056/NEJM199505253322101; PubMed=7723794 [NCBI, ExPASy, EBI, Israel, Japan]
Taplin M.-E.,
Bubley G.J.,
Shuster T.D.,
Frantz M.E.,
Spooner A.E.,
Ogata G.K.,
Keer H.N.,
Balk S.P.;
"Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer.";
N. Engl. J. Med. 332:1393-1398(1995).
|
[118]
|
VARIANTS AIS AND PAIS.
DOI=10.1002/(SICI)1096-8628(19960503)63:1<218::AID-AJMG38>3.0.CO;2-P; PubMed=8723113 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Sinnecker G.H.,
Holterhus P.M.,
Nitsche E.M.,
Kruse K.;
"The clinical and molecular spectrum of androgen insensitivity syndromes.";
Am. J. Med. Genet. 63:218-222(1996).
|
[119]
|
VARIANTS PROSTATE CANCER.
PubMed=9816170 [NCBI, ExPASy, EBI, Israel, Japan]
Tilley W.D.,
Buchanan G.,
Hickey T.E.,
Bentel J.M.;
"Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence.";
Clin. Cancer Res. 2:277-285(1996).
|
[120]
|
VARIANTS PAIS GLN-607; THR-610; LEU-754; HIS-840; THR-842 AND HIS-855, AND VARIANT AIS MET-866.
DOI=10.1046/j.1365-2265.1996.8600869.x; PubMed=9039340 [NCBI, ExPASy, EBI, Israel, Japan]
Weidemann W.,
Linck B.,
Haupt H.,
Mentrup B.,
Romalo G.,
Stockklauser K.,
Brinkmann A.O.,
Schweikert H.-U.,
Spindler K.D.;
"Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.";
Clin. Endocrinol. (Oxf.) 45:733-739(1996).
|
[121]
|
VARIANT AIS CYS-855.
PubMed=9001799 [NCBI, ExPASy, EBI, Israel, Japan]
Malmgren H.,
Gustavsson J.,
Tuvemo T.,
Dahl N.;
"Rapid detection of a mutation hot-spot in the human androgen receptor.";
Clin. Genet. 50:202-205(1996).
|
[122]
|
VARIANTS PAIS ILE-742; ILE-780; GLU-798; CYS-840; HIS-855 AND MET-869.
DOI=10.1093/hmg/5.2.265; PubMed=8824883 [NCBI, ExPASy, EBI, Israel, Japan]
Bevan C.L.,
Brown B.B.,
Davies H.R.,
Evans B.A.J.,
Hughes I.A.,
Patterson M.N.;
"Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.";
Hum. Mol. Genet. 5:265-273(1996).
|
[123]
|
VARIANT PAIS ARG-909.
DOI=10.1210/jc.81.1.236; PubMed=8550758 [NCBI, ExPASy, EBI, Israel, Japan]
Choong C.S.,
Sturm M.J.,
Strophair J.A.,
McCulloch R.K.,
Tilley W.D.,
Leedman P.J.,
Hurley D.M.;
"Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels.";
J. Clin. Endocrinol. Metab. 81:236-243(1996).
|
[124]
|
VARIANT AIS ARG-707.
DOI=10.1210/jc.81.5.1984; PubMed=8626869 [NCBI, ExPASy, EBI, Israel, Japan]
Lumbroso S.,
Lobaccaro J.-M.,
Georget V.,
Leger J.,
Poujol N.,
Terouanne B.,
Evain-Brion D.,
Czernichow P.,
Sultan C.;
"A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.";
J. Clin. Endocrinol. Metab. 81:1984-1988(1996).
|
[125]
|
VARIANT AIS ILE-780.
DOI=10.1210/jc.81.8.2994; PubMed=8768864 [NCBI, ExPASy, EBI, Israel, Japan]
Rodien P.,
Mebarki F.,
Mowszowicz I.,
Chaussain J.L.,
Young J.,
Morel Y.,
Schaison G.;
"Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.";
J. Clin. Endocrinol. Metab. 81:2994-2998(1996).
|
[126]
|
VARIANT PAIS LYS-2.
PubMed=8823308 [NCBI, ExPASy, EBI, Israel, Japan]
Choong C.S.,
Quigley C.A.,
French F.S.,
Wilson E.M.;
"A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.";
J. Clin. Invest. 98:1423-1431(1996).
|
[127]
|
VARIANT AIS ASP-573.
DOI=10.1016/0960-0760(96)00095-7; PubMed=8918984 [NCBI, ExPASy, EBI, Israel, Japan]
Bruggenwirth H.T.,
Boehmer A.L.M.,
Verleun-Mooijman M.C.T.,
Hoogenboezem T.,
Kleijer W.J.,
Otten B.J.,
Trapman J.,
Brinkmann A.O.;
"Molecular basis of androgen insensitivity.";
J. Steroid Biochem. Mol. Biol. 58:569-575(1996).
|
[128]
|
VARIANT AIS SER-548.
DOI=10.1097/00005392-199608001-00077; PubMed=8683794 [NCBI, ExPASy, EBI, Israel, Japan]
Sutherland R.W.,
Wiener J.S.,
Hicks J.P.,
Marcelli M.,
Gonzales E.T. Jr.,
Roth D.R.,
Lamb D.J.;
"Androgen receptor gene mutations are rarely associated with isolated penile hypospadias.";
J. Urol. 156:828-831(1996).
|
[129]
|
VARIANT AIS PRO-616.
DOI=10.1016/0303-7207(95)03709-8; PubMed=8647313 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Poujol N.,
Chiche L.,
Lumbroso S.,
Brown T.R.,
Sultan C.;
"Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations.";
Mol. Cell. Endocrinol. 116:137-147(1996).
|
[130]
|
VARIANT AIS PHE-579, AND VARIANT PAIS TYR-582.
DOI=10.1016/0303-7207(96)03812-9; PubMed=8809734 [NCBI, ExPASy, EBI, Israel, Japan]
Imasaki K.,
Okabe T.,
Murakami H.,
Tanaka Y.,
Haji M.,
Takayanagi R.,
Nawata H.;
"Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.";
Mol. Cell. Endocrinol. 120:15-24(1996).
|
[131]
|
VARIANT PROSTATE CANCER GLU-798.
DOI=10.1002/(SICI)1097-0045(199603)28:3<162::AID-PROS3>3.0.CO;2-H; PubMed=8628719 [NCBI, ExPASy, EBI, Israel, Japan]
Evans B.A.J.,
Harper M.E.,
Daniells C.E.,
Watts C.E.,
Matenhelia S.,
Green J.,
Griffiths K.;
"Low incidence of androgen receptor gene mutations in human prostatic tumors using single strand conformation polymorphism analysis.";
Prostate 28:162-171(1996).
|
[132]
|
VARIANT PROSTATE CANCER ALA-877.
DOI=10.1002/1097-0045(199609)29:3<153::AID-PROS2990290303>3.0.CO;2-5; PubMed=8827083 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki H.,
Akakura K.,
Komiya A.,
Aida S.,
Akimoto S.,
Shimazaki J.;
"Codon 877 mutation in the androgen receptor gene in advanced prostate cancer: relation to antiandrogen withdrawal syndrome.";
Prostate 29:153-158(1996).
|
[133]
|
VARIANT AIS HIS-855.
PubMed=9106550 [NCBI, ExPASy, EBI, Israel, Japan]
Boehmer A.L.M.,
Brinkmann A.O.,
Niermeijer M.F.,
Bakker L.,
Halley D.J.J.,
Drop S.L.S.;
"Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.";
Am. J. Hum. Genet. 60:1003-1006(1997).
|
[134]
|
VARIANT PROSTATE CANCER ALA-683.
PubMed=9000575 [NCBI, ExPASy, EBI, Israel, Japan]
Koivisto P.,
Kononen J.,
Palmberg C.,
Tammela T.,
Hyytinen E.,
Isola J.,
Trapman J.,
Cleutjens K.,
Noordzij A.,
Visakorpi T.,
Kallioniemi O.-P.;
"Androgen receptor gene amplification: a possible molecular mechanism for androgen deprivation therapy failure in prostate cancer.";
Cancer Res. 57:314-319(1997).
|
[135]
|
VARIANTS PAIS LYS-608 AND GLY-772.
DOI=10.1046/j.1365-2265.1997.1140927.x; PubMed=9196614 [NCBI, ExPASy, EBI, Israel, Japan]
Tincello D.G.,
Saunders P.T.,
Hodgins M.B.,
Simpson N.B.,
Edwards C.R.,
Hargreaves T.B.,
Wu F.C.;
"Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome.";
Clin. Endocrinol. (Oxf.) 46:497-506(1997).
|
[136]
|
VARIANT AIS MET-889.
PubMed=9160185 [NCBI, ExPASy, EBI, Israel, Japan]
Essawi M.,
Gad Y.Z.,
el-Rouby O.,
Temtamy S.A.,
Sabour Y.A.,
el-Awady M.K.;
"Molecular analysis of androgen resistance syndromes in Egyptian patients.";
Dis. Markers 13:99-105(1997).
|
[137]
|
VARIANT AIS TRP-779.
DOI=10.1007/s004310050542; PubMed=9007482 [NCBI, ExPASy, EBI, Israel, Japan]
Sinnecker G.H.,
Hiort O.,
Nitsche E.M.,
Holterhus P.M.,
Kruse K.;
"Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene.";
Eur. J. Pediatr. 156:7-14(1997).
|
[138]
|
VARIANTS AIS VAL-749; CYS-774; ILE-780 AND SER-794.
DOI=10.1002/(SICI)1098-1004(1997)9:1<57::AID-HUMU10>3.3.CO;2-0; PubMed=8990010 [NCBI, ExPASy, EBI, Israel, Japan]
Jakubiczka S.,
Nedel S.,
Werder E.A.,
Schleiermacher E.,
Theile U.,
Wolff G.,
Wieacker P.;
"Mutations of the androgen receptor gene in patients with complete androgen insensitivity.";
Hum. Mutat. 9:57-61(1997).
|
[139]
|
VARIANTS PROSTATE CANCER IN POLY-GLN REGION; HIS-701 AND ARG-910.
DOI=10.1093/jjco/27.6.389; PubMed=9438000 [NCBI, ExPASy, EBI, Israel, Japan]
Watanabe M.,
Ushijima T.,
Shiraishi T.,
Yatani R.,
Shimazaki J.,
Kotake T.,
Sugimura T.,
Nagao M.;
"Genetic alterations of androgen receptor gene in Japanese human prostate cancer.";
Jpn. J. Clin. Oncol. 27:389-393(1997).
|
[140]
|
VARIANT PROSTATE CANCER GLN-629.
PubMed=9184448 [NCBI, ExPASy, EBI, Israel, Japan]
Wang C.,
Uchida T.;
"Androgen receptor gene mutations in prostate cancer.";
Nihon Hinyokika Gakkai Zasshi 88:550-556(1997).
|
[141]
|
VARIANTS AIS ARG-194 AND CYS-855.
PubMed=9255042 [NCBI, ExPASy, EBI, Israel, Japan]
Komori S.,
Sakata K.,
Tanaka H.,
Shima H.,
Koyama K.;
"DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome.";
J. Obstet. Gynaecol. Res. 23:277-281(1997).
|
[142]
|
VARIANTS PAIS ALA-708 AND GLY-870.
PubMed=9329414 [NCBI, ExPASy, EBI, Israel, Japan]
Albers N.,
Ulrichs C.,
Gluer S.,
Hiort O.,
Sinnecker G.H.,
Mildenberger H.,
Brodehl J.;
"Etiologic classification of severe hypospadias: implications for prognosis and management.";
J. Pediatr. 131:386-392(1997).
|
[143]
|
VARIANTS AIS ASN-732 AND THR-765.
PubMed=9252933 [NCBI, ExPASy, EBI, Israel, Japan]
Ko T.M.,
Yang Y.S.,
Wu M.Y.,
Kao C.H.,
Hsu P.M.,
Chuang S.M.,
Lee T.Y.;
"Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women.";
J. Reprod. Med. 42:424-428(1997).
|
[144]
|
VARIANTS AIS ASP-750; PHE-762; THR-765; ASN-864 AND PHE-907.
DOI=10.1016/S0960-0760(97)00001-0; PubMed=9328206 [NCBI, ExPASy, EBI, Israel, Japan]
Bevan C.L.,
Hughes I.A.,
Patterson M.N.;
"Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.";
J. Steroid Biochem. Mol. Biol. 61:19-26(1997).
|
[145]
|
VARIANT PAIS GLY-703, AND VARIANT AIS LEU-916.
DOI=10.1097/00005392-199710000-00075; PubMed=9302173 [NCBI, ExPASy, EBI, Israel, Japan]
Radmayr C.,
Culig Z.,
Glatzl J.,
Neuschmid-Kaspar F.,
Bartsch G.,
Klocker H.;
"Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.";
J. Urol. 158:1553-1556(1997).
|
[146]
|
VARIANTS AIS CYS-571; GLN-752 AND CYS-774.
DOI=10.1007/s004040050206; PubMed=9544375 [NCBI, ExPASy, EBI, Israel, Japan]
Komori S.,
Kasumi H.,
Sakata K.,
Tanaka H.,
Hamada K.,
Koyama K.;
"Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.";
Arch. Gynecol. Obstet. 261:95-100(1998).
|
[147]
|
VARIANTS AIS HIS-615 AND GLN-752.
DOI=10.1590/S0100-879X1998000600008; PubMed=9698822 [NCBI, ExPASy, EBI, Israel, Japan]
Cabral D.F.,
Maciel-Guerra A.T.,
Hackel C.;
"Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.";
Braz. J. Med. Biol. Res. 31:775-778(1998).
|
[148]
|
VARIANT AIS ARG-214.
PubMed=9788719 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Q.,
Ghadessy F.J.,
Yong E.L.;
"Analysis of the transactivation domain of the androgen receptor in patients with male infertility.";
Clin. Genet. 54:185-192(1998).
|
[149]
|
VARIANTS AIS PRO-255 AND ALA-820.
PubMed=9610419 [NCBI, ExPASy, EBI, Israel, Japan]
Tanaka H.,
Komori S.,
Sakata K.,
Shima H.,
Koyama K.;
"One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.";
Gynecol. Endocrinol. 12:75-82(1998).
|
[150]
|
VARIANTS AIS THR-765; TYR-784 AND THR-895, AND VARIANT PAIS GLY-840.
DOI=10.1007/s004390050864; PubMed=9856504 [NCBI, ExPASy, EBI, Israel, Japan]
Lundberg Giwercman Y.,
Nikoshkov A.,
Lindsten K.,
Bystroem B.,
Pousette A.,
Chibalin A.V.,
Arvidsson S.,
Tiulpakov A.,
Semitcheva T.V.,
Peterkova V.,
Hagenfeldt K.,
Ritzen E.M.,
Wedell A.;
"Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.";
Hum. Genet. 103:529-531(1998).
|
[151]
|
VARIANT AIS VAL-695.
PubMed=9554754 [NCBI, ExPASy, EBI, Israel, Japan]
Doerk T.,
Schnieders F.,
Jakubiczka S.,
Wieacker P.,
Schroeder-Kurth T.,
Schmidtke J.;
"A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.";
Hum. Mutat. 11:337-339(1998).
|
[152]
|
VARIANT ASP-645.
PubMed=9554755 [NCBI, ExPASy, EBI, Israel, Japan]
Nordenskjoeld A.,
Soederhaell S.;
"An androgen receptor gene mutation (A645D) in a boy with a normal phenotype.";
Hum. Mutat. 11:339-339(1998).
|
[153]
|
VARIANT AIS LEU-892.
Knoke I.,
Jakubiczka S.,
Rohrer T.,
Hanimann B.,
Werder E.A.,
Wieacker P.;
"Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS).";
Hum. Mutat. 12:220-220(1998).
|
[154]
|
VARIANT PAIS GLN-607.
DOI=10.1210/jc.83.4.1173; PubMed=9543136 [NCBI, ExPASy, EBI, Israel, Japan]
Weidemann W.,
Peters B.,
Romalo G.,
Spindler K.D.,
Schweikert H.-U.;
"Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.";
J. Clin. Endocrinol. Metab. 83:1173-1176(1998).
|
[155]
|
VARIANTS PAIS VAL-743 AND CYS-840.
DOI=10.1210/jc.83.10.3597; PubMed=9768671 [NCBI, ExPASy, EBI, Israel, Japan]
Georget V.,
Terouanne B.,
Lumbroso S.,
Nicolas J.C.,
Sultan C.;
"Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 83:3597-3603(1998).
|
[156]
|
VARIANT AIS GLU-798.
DOI=10.1210/jc.83.12.4303; PubMed=9851768 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Q.,
Ghadessy F.J.,
Trounson A.,
de Kretser D.,
McLachlan R.,
Ng S.C.,
Yong E.L.;
"Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.";
J. Clin. Endocrinol. Metab. 83:4303-4309(1998).
|
[157]
|
VARIANTS AIS.
DOI=10.1016/S0022-3476(98)70387-7; PubMed=9627582 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Sinnecker G.H.,
Holterhus P.M.,
Nitsche E.M.,
Kruse K.;
"Inherited and de novo androgen receptor gene mutations: investigation of single-case families.";
J. Pediatr. 132:939-943(1998).
|
[158]
|
VARIANT PAIS THR-758.
DOI=10.1016/S0303-7207(97)00229-3; PubMed=9607727 [NCBI, ExPASy, EBI, Israel, Japan]
Yong E.L.,
Tut T.G.,
Ghadessy F.J.,
Prins G.,
Ratnam S.S.;
"Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.";
Mol. Cell. Endocrinol. 137:41-50(1998).
|
[159]
|
VARIANT PAIS LEU-911.
DOI=10.1046/j.1439-0272.1999.00278.x; PubMed=10470409 [NCBI, ExPASy, EBI, Israel, Japan]
Knoke I.,
Jakubiczka S.,
Lehnert H.,
Wieacker P.;
"A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.";
Andrologia 31:199-201(1999).
|
[160]
|
VARIANTS PROSTATE CANCER ALA-877 AND ASN-890.
PubMed=10363963 [NCBI, ExPASy, EBI, Israel, Japan]
Taplin M.-E.,
Bubley G.J.,
Ko Y.J.,
Small E.J.,
Upton M.,
Rajeshkumar B.,
Balk S.P.;
"Selection for androgen receptor mutations in prostate cancers treated with androgen antagonist.";
Cancer Res. 59:2511-2515(1999).
|
[161]
|
VARIANT PAIS SER-840.
DOI=10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7; PubMed=10502786 [NCBI, ExPASy, EBI, Israel, Japan]
Melo K.F.S.,
Latronico A.C.,
Costa E.M.F.,
Billerbeck A.E.C.,
Mendonca B.B.,
Arnhold I.J.P.;
"A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.";
Hum. Mutat. 14:353-353(1999).
|
[162]
|
VARIANTS AIS ARG-390 AND ARG-443.
DOI=10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X; PubMed=10571951 [NCBI, ExPASy, EBI, Israel, Japan]
Gottlieb B.,
Vasiliou D.M.,
Lumbroso R.,
Beitel L.K.,
Pinsky L.,
Trifiro M.A.;
"Analysis of exon 1 mutations in the androgen receptor gene.";
Hum. Mutat. 14:527-539(1999).
|
[163]
|
VARIANT PAIS GLN-607, AND VARIANT AIS LYS-681.
DOI=10.1093/humrep/14.3.664; PubMed=10221692 [NCBI, ExPASy, EBI, Israel, Japan]
Chen C.P.,
Chern S.R.,
Wang T.Y.,
Wang W.,
Wang K.L.,
Jeng C.J.;
"Androgen receptor gene mutations in 46,XY females with germ cell tumours.";
Hum. Reprod. 14:664-670(1999).
|
[164]
|
VARIANT AIS LEU-892.
DOI=10.1046/j.1442-2042.1999.00065.x; PubMed=10404311 [NCBI, ExPASy, EBI, Israel, Japan]
Kanayama H.,
Naroda T.,
Inoue Y.,
Kurokawa Y.,
Kagawa S.;
"A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation.";
Int. J. Urol. 6:327-330(1999).
|
[165]
|
VARIANT PAIS ALA-772, AND VARIANT AIS GLY-871.
DOI=10.1210/jc.84.2.805; PubMed=10022458 [NCBI, ExPASy, EBI, Israel, Japan]
Shkolny D.L.,
Beitel L.K.,
Ginsberg J.,
Pekeles G.,
Arbour L.,
Pinsky L.,
Trifiro M.A.;
"Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.";
J. Clin. Endocrinol. Metab. 84:805-810(1999).
|
[166]
|
VARIANTS PROSTATE CANCER IN POLY-GLN REGION AND ALA-683.
DOI=10.1002/(SICI)1096-9896(199912)189:4<559::AID-PATH471>3.0.CO;2-Y; PubMed=10629558 [NCBI, ExPASy, EBI, Israel, Japan]
Wallen M.J.,
Linja M.,
Kaartinen K.,
Schleutker J.,
Visakorpi T.;
"Androgen receptor gene mutations in hormone-refractory prostate cancer.";
J. Pathol. 189:559-563(1999).
|
[167]
|
VARIANTS PROSTATE CANCER HIS-701 AND ALA-877.
DOI=10.1016/S0022-5347(05)68158-X; PubMed=10569618 [NCBI, ExPASy, EBI, Israel, Japan]
Zhao X.Y.,
Boyle B.,
Krishnan A.V.,
Navone N.M.,
Peehl D.M.,
Feldman D.;
"Two mutations identified in the androgen receptor of the new human prostate cancer cell line MDA PCa 2a.";
J. Urol. 162:2192-2199(1999).
|
[168]
|
VARIANT PAIS THR-807.
DOI=10.1016/S0140-6736(99)03205-5; PubMed=10543676 [NCBI, ExPASy, EBI, Israel, Japan]
Ong Y.C.,
Wong H.B.,
Adaikan G.,
Yong E.L.;
"Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.";
Lancet 354:1444-1445(1999).
|
[169]
|
VARIANT AIS LEU-892.
DOI=10.1016/S0303-7207(98)00237-8; PubMed=10221770 [NCBI, ExPASy, EBI, Israel, Japan]
Peters I.,
Weidemann W.,
Romalo G.,
Knorr D.,
Schweikert H.-U.,
Spindler K.D.;
"An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.";
Mol. Cell. Endocrinol. 148:47-53(1999).
|
[170]
|
VARIANT PROSTATE CANCER TYR-619.
DOI=10.1210/me.13.12.2065; PubMed=10598582 [NCBI, ExPASy, EBI, Israel, Japan]
Nazareth L.V.,
Stenoien D.L.,
Bingman W.E. III,
James A.J.,
Wu C.,
Zhang Y.,
Edwards D.P.,
Mancini M.,
Marcelli M.,
Lamb D.J.,
Weigel N.L.;
"A C619Y mutation in the human androgen receptor causes inactivation and mislocalization of the receptor with concomitant sequestration of SRC-1.";
Mol. Endocrinol. 13:2065-2075(1999).
|
[171]
|
ERRATUM.
Nazareth L.V.,
Stenoien D.L.,
Bingman W.E. III,
James A.J.,
Wu C.,
Zhang Y.,
Edwards D.P.,
Mancini M.,
Marcelli M.,
Lamb D.J.,
Weigel N.L.;
Mol. Endocrinol. 14:544-544(2000).
|
[172]
|
VARIANT AIS THR-596.
DOI=10.1203/00006450-199912000-00008; PubMed=10590024 [NCBI, ExPASy, EBI, Israel, Japan]
Holterhus P.M.,
Wiebel J.,
Sinnecker G.H.,
Bruggenwirth H.T.,
Sippell W.G.,
Brinkmann A.O.,
Kruse K.,
Hiort O.;
"Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.";
Pediatr. Res. 46:684-690(1999).
|
[173]
|
VARIANTS AIS PHE-812 AND GLN-831.
DOI=10.1620/tjem.187.263; PubMed=10458483 [NCBI, ExPASy, EBI, Israel, Japan]
Yaegashi N.,
Uehara S.,
Senoo M.,
Sato J.,
Fujiwara J.,
Funato T.,
Sasaki T.,
Yajima A.;
"Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.";
Tohoku J. Exp. Med. 187:263-272(1999).
|
[174]
|
VARIANTS THR-597 AND LEU-725.
DOI=10.1007/s002400050088; PubMed=10092153 [NCBI, ExPASy, EBI, Israel, Japan]
Nordenskjoeld A.,
Friedman E.,
Tapper-Persson M.,
Soederhaell C.,
Leviav A.,
Svensson J.,
Anvret M.;
"Screening for mutations in candidate genes for hypospadias.";
Urol. Res. 27:49-55(1999).
|
[175]
|
VARIANTS PROSTATE CANCER ALA-575; ARG-580; VAL-586; TYR-619; ALA-757 AND GLY-846.
PubMed=10706109 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Ittmann M.,
Mariani S.,
Sutherland R.W.,
Nigam R.,
Murthy L.,
Zhao Y.,
DiConcini D.,
Puxeddu E.,
Esen A.,
Eastham J.,
Weigel N.L.,
Lamb D.J.;
"Androgen receptor mutations in prostate cancer.";
Cancer Res. 60:944-949(2000).
|
[176]
|
VARIANTS AIS AND PAIS.
DOI=10.1210/jc.85.2.658; PubMed=10690872 [NCBI, ExPASy, EBI, Israel, Japan]
Ahmed S.F.,
Cheng A.,
Dovey L.,
Hawkins J.R.,
Martin H.,
Rowland J.,
Shimura N.,
Tait A.D.,
Hughes I.A.;
"Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 85:658-665(2000).
|
[177]
|
VARIANTS PAIS THR-682 AND GLU-711, AND VARIANTS AIS GLU-743; VAL-827; ARG-874 AND TYR-879.
DOI=10.1007/s100380170021; PubMed=11587068 [NCBI, ExPASy, EBI, Israel, Japan]
Chavez B.,
Mendez J.P.,
Ulloa-Aguirre A.,
Larrea F.,
Vilchis F.;
"Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.";
J. Hum. Genet. 46:560-565(2001).
|
[178]
|
INVOLVEMENT IN AGA.
DOI=10.1046/j.1523-1747.2001.01261.x; PubMed=11231320 [NCBI, ExPASy, EBI, Israel, Japan]
Ellis J.A.,
Stebbing M.,
Harrap S.B.;
"Polymorphism of the androgen receptor gene is associated with male pattern baldness.";
J. Invest. Dermatol. 116:452-455(2001).
|
[179]
|
VARIANT AIS TYR-705.
PubMed=11744994 [NCBI, ExPASy, EBI, Israel, Japan]
Sills E.S.,
Sholes T.E.,
Perloe M.,
Kaplan C.R.,
Davis J.G.,
Tucker M.J.;
"Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis.";
Int. J. Mol. Med. 9:45-48(2002).
|
[180]
|
INVOLVEMENT IN AGA.
DOI=10.1086/431425; PubMed=15902657 [NCBI, ExPASy, EBI, Israel, Japan]
Hillmer A.M.,
Hanneken S.,
Ritzmann S.,
Becker T.,
Freudenberg J.,
Brockschmidt F.F.,
Flaquer A.,
Freudenberg-Hua Y.,
Jamra R.A.,
Metzen C.,
Heyn U.,
Schweiger N.,
Betz R.C.,
Blaumeiser B.,
Hampe J.,
Schreiber S.,
Schulze T.G.,
Hennies H.C.,
Schumacher J., ![]()
Propping P.,
Ruzicka T.,
Cichon S.,
Wienker T.F.,
Kruse R.,
Noethen M.M.;
"Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.";
Am. J. Hum. Genet. 77:140-148(2005).
|
[181]
|
INVOLVEMENT IN SMAX1.
DOI=10.1212/01.WNL.0000158617.41819.F3; PubMed=15851746 [NCBI, ExPASy, EBI, Israel, Japan]
Echaniz-Laguna A.,
Rousso E.,
Anheim M.,
Cossee M.,
Tranchant C.;
"A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.";
Neurology 64:1458-1460(2005).
|
[182]
|
CHARACTERIZATION OF VARIANTS AIS ASN-695; CYS-763; HIS-774; GLU-798; HIS-855 AND PHE-907.
DOI=10.1677/jme.1.01885; PubMed=16595706 [NCBI, ExPASy, EBI, Israel, Japan]
Jaeaeskelaeinen J.,
Deeb A.,
Schwabe J.W.,
Mongan N.P.,
Martin H.,
Hughes I.A.;
"Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.";
J. Mol. Endocrinol. 36:361-368(2006).
|
|
ExPASy Home page
