[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1038/329642a0; PubMed=3657987 [NCBI, ExPASy, EBI, Israel, Japan]
Lee W.-H.,
Shew J.-Y.,
Hong F.D.,
Sery T.W.,
Donoso L.A.,
Young L.-J.S.,
Bookstein R.,
Lee E.Y.-H.P.;
"The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity.";
Nature 329:642-645(1987).
|
[2]
|
SEQUENCE REVISION.
PubMed=3823889 [NCBI, ExPASy, EBI, Israel, Japan]
Lee W.-H.,
Bookstein R.,
Hong F.D.,
Young L.-J.,
Shew J.-Y.,
Lee E.Y.-H.P.;
"Human retinoblastoma susceptibility gene: cloning, identification, and sequence.";
Science 235:1394-1399(1987).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3480530 [NCBI, ExPASy, EBI, Israel, Japan]
Friend S.H.,
Horowitz J.M.,
Gerber M.R.,
Wang X.-F.,
Bogenmann E.,
Li F.P.,
Weinberg R.A.;
"Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein.";
Proc. Natl. Acad. Sci. U.S.A. 84:9059-9063(1987).
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0378-1119(89)90256-4; PubMed=2701949 [NCBI, ExPASy, EBI, Israel, Japan]
McGee T.L.,
Yandell D.W.,
Dryja T.P.;
"Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.";
Gene 80:119-128(1989).
|
[5]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Carcinoma;
PubMed=1352398 [NCBI, ExPASy, EBI, Israel, Japan]
Hogg A.,
Onadim Z.,
Baird P.N.,
Cowell J.K.;
"Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing.";
Oncogene 7:1445-1451(1992).
|
[6]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1993.1368; PubMed=7902321 [NCBI, ExPASy, EBI, Israel, Japan]
Toguchida J.,
McGee T.L.,
Paterson J.C.,
Eagle J.R.,
Tucker S.,
Yandell D.W.,
Dryja T.P.;
"Complete genomic sequence of the human retinoblastoma susceptibility gene.";
Genomics 17:535-543(1993).
|
[7]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LYS-436 AND GLY-525.
Rieder M.J.,
Livingston R.J.,
Braun A.C.,
Montoya M.A.,
Chung M.-W.,
Miyamoto K.E.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Witrak L.A.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
|
[8]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A.,
Matthews L.H.,
Burton J.,
Ashurst J.L.,
Howe K.L.,
Ashcroft K.J.,
Beare D.M.,
Burford D.C.,
Hunt S.E.,
Griffiths-Jones S.,
Jones M.C.,
Keenan S.J.,
Oliver K.,
Scott C.E.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews D.T.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Bannerjee R.,
Barlow K.F.,
Bates K.,
Beasley H.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burrill W.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.E.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.C.,
Cobley V.,
Collins J.E.,
Corby N.,
Coville G.J.,
Deloukas P.,
Dhami P.,
Dunham I.,
Dunn M.,
Earthrowl M.E.,
Ellington A.G.,
Faulkner L.,
Frankish A.G.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gilbert J.G.R.,
Gilson C.J.,
Ghori J.,
Grafham D.V.,
Gribble S.M.,
Griffiths C.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Howden P.J.,
Huckle E.J.,
Hunt P.J.,
Hunt A.R.,
Johnson C.,
Johnson D.,
Kay M.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.J.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Lloyd C.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
McLaren S.J.,
McMurray A.,
Milne S.,
Moore M.J.F.,
Nickerson T.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.M.,
Rice C.M.,
Searle S.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Sycamore N.,
Tester J.,
Thomas D.W.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Wilming L.,
Wray P.W.,
Wright M.W.,
Young L.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Beck S.,
Bentley D.R.,
Rogers J.,
Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
|
[9]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Cervix, and Testis;
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).
|
[10]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-45.
PubMed=2717184 [NCBI, ExPASy, EBI, Israel, Japan]
T'Ang A.,
Wu K.J.,
Hashimoto T.,
Liu W.Y.,
Takahashi R.,
Shi X.H.,
Mihara K.,
Zhang F.H.,
Chen Y.Y.,
Du C.,
Qian J.,
Lin Y.G.,
Murphree A.L.,
Qiu W.R.,
Thompson T.,
Benedict W.F.,
Fung Y.K.T.;
"Genomic organization of the human retinoblastoma gene.";
Oncogene 4:401-407(1989).
|
[11]
|
INTERACTION WITH SV40 LARGE T ANTIGEN AND HPV E7 PROTEIN.
PubMed=1316611 [NCBI, ExPASy, EBI, Israel, Japan]
Chellappan S.,
Kraus V.B.,
Kroger B.,
Munger K.,
Howley P.M.,
Phelps W.C.,
Nevins J.R.;
"Adenovirus E1A, simian virus 40 tumor antigen, and human papillomavirus E7 protein share the capacity to disrupt the interaction between transcription factor E2F and the retinoblastoma gene product.";
Proc. Natl. Acad. Sci. U.S.A. 89:4549-4553(1992).
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[12]
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PROTEIN SEQUENCE OF 47-65, AND INVOLVEMENT IN RETINOBLASTOMA.
DOI=10.1093/hmg/3.12.2187; PubMed=7881418 [NCBI, ExPASy, EBI, Israel, Japan]
Lohmann D.R.,
Brandt B.,
Hopping W.,
Passarge E.,
Horsthemke B.;
"Spectrum of small length germline mutations in the RB1 gene.";
Hum. Mol. Genet. 3:2187-2193(1994).
|
[13]
|
COMPLEX WITH SV40 LARGE T ANTIGEN.
DOI=10.1016/0092-8674(88)90559-4; PubMed=2839300 [NCBI, ExPASy, EBI, Israel, Japan]
Decaprio J.A.,
Ludlow J.W.,
Figge J.,
Shew J.-Y.,
Huang C.-M.,
Lee W.-H.,
Marsilio E.,
Paucha E.,
Livingston D.M.;
"SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene.";
Cell 54:275-283(1988).
|
[14]
|
INVOLVEMENT IN RETINOBLASTOMA.
PubMed=3413073 [NCBI, ExPASy, EBI, Israel, Japan]
Lee E.Y.-H.P.,
Bookstein R.,
Young L.-J.,
Lin C.-J.,
Rosenfeld M.G.,
Lee W.-H.;
"Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79.";
Proc. Natl. Acad. Sci. U.S.A. 85:6017-6021(1988).
|
[15]
|
PHOSPHORYLATION AT SER-249; THR-252; THR-373; SER-807 AND SER-811.
PubMed=1756735 [NCBI, ExPASy, EBI, Israel, Japan]
Lees J.A.,
Buchkovich K.J.,
Marshak D.R.,
Anderson C.W.,
Harlow E.;
"The retinoblastoma protein is phosphorylated on multiple sites by human cdc2.";
EMBO J. 10:4279-4290(1991).
|
[16]
|
INTERACTION WITH JARID1A AND ARID4A.
PubMed=8414517 [NCBI, ExPASy, EBI, Israel, Japan]
Fattaey A.R.,
Helin K.,
Dembski M.S.,
Dyson N.,
Harlow E.,
Vuocolo G.A.,
Hanobik M.G.,
Haskell K.M.,
Oliff A.,
Defeo-Jones D.,
Jones R.E.;
"Characterization of the retinoblastoma binding proteins RBP1 and RBP2.";
Oncogene 8:3149-3156(1993).
|
[17]
|
INTERACTION WITH THOC1.
DOI=10.1083/jcb.127.3.609; PubMed=7525595 [NCBI, ExPASy, EBI, Israel, Japan]
Durfee T.,
Mancini M.A.,
Jones D.,
Elledge S.J.,
Lee W.H.;
"The amino-terminal region of the retinoblastoma gene product binds a novel nuclear matrix protein that co-localizes to centers for RNA processing.";
J. Cell Biol. 127:609-622(1994).
|
[18]
|
INTERACTION WITH JARID1A.
PubMed=7935440 [NCBI, ExPASy, EBI, Israel, Japan]
Kim Y.W.,
Otterson G.A.,
Kratzke R.A.,
Coxon A.B.,
Kaye F.J.;
"Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein.";
Mol. Cell. Biol. 14:7256-7264(1994).
|
[19]
|
INTERACTION WITH ARID3B.
PubMed=10446990 [NCBI, ExPASy, EBI, Israel, Japan]
Numata S.,
Claudio P.P.,
Dean C.,
Giordano A.,
Croce C.M.;
"Bdp, a new member of a family of DNA-binding proteins, associates with the retinoblastoma gene product.";
Cancer Res. 59:3741-3747(1999).
|
[20]
|
INTERACTION WITH NDC80.
PubMed=10409732 [NCBI, ExPASy, EBI, Israel, Japan]
Zheng L.,
Chen Y.,
Lee W.-H.;
"Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins.";
Mol. Cell. Biol. 19:5417-5428(1999).
|
[21]
|
INTERACTION WITH NDC80.
DOI=10.1128/MCB.20.10.3529-3537.2000; PubMed=10779342 [NCBI, ExPASy, EBI, Israel, Japan]
Zheng L.,
Chen Y.,
Riley D.J.,
Chen P.-L.,
Lee W.-H.;
"Retinoblastoma protein enhances the fidelity of chromosome segregation mediated by hsHec1p.";
Mol. Cell. Biol. 20:3529-3537(2000).
|
[22]
|
INTERACTION WITH TAF1.
PubMed=9858607 [NCBI, ExPASy, EBI, Israel, Japan]
Siegert J.L.,
Robbins P.D.;
"Rb inhibits the intrinsic kinase activity of TATA-binding protein-associated factor TAFII250.";
Mol. Cell. Biol. 19:846-854(1999).
|
[23]
|
INTERACTION WITH E4F1.
DOI=10.1073/pnas.130198397; PubMed=10869426 [NCBI, ExPASy, EBI, Israel, Japan]
Fajas L.,
Paul C.,
Zugasti O.,
Le Cam L.,
Polanowska J.,
Fabbrizio E.,
Medema R.,
Vignais M.-L.,
Sardet C.;
"pRB binds to and modulates the transrepressing activity of the E1A-regulated transcription factor p120E4F.";
Proc. Natl. Acad. Sci. U.S.A. 97:7738-7743(2000).
|
[24]
|
INTERACTION WITH EID1.
DOI=10.1016/S0378-1119(00)00585-0; PubMed=11223246 [NCBI, ExPASy, EBI, Israel, Japan]
Wen H.,
Ao S.;
"Identification and characterization of a novel human cDNA encoding a 21 kDa pRb-associated protein.";
Gene 263:85-92(2001).
|
[25]
|
INTERACTION WITH DNMT1.
DOI=10.1038/77124; PubMed=10888886 [NCBI, ExPASy, EBI, Israel, Japan]
Robertson K.D.,
Ait-Si-Ali S.,
Yokochi T.,
Wade P.A.,
Jones P.L.,
Wolffe A.P.;
"DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters.";
Nat. Genet. 25:338-342(2000).
|
[26]
|
INTERACTION WITH SUV39H1.
DOI=10.1038/35087620; PubMed=11484059 [NCBI, ExPASy, EBI, Israel, Japan]
Nielsen S.J.,
Schneider R.,
Bauer U.-M.,
Bannister A.J.,
Morrison A.,
O'Carroll D.,
Firestein R.,
Cleary M.L.,
Jenuwein T.,
Herrera R.E.,
Kouzarides T.;
"Rb targets histone H3 methylation and HP1 to promoters.";
Nature 412:561-565(2001).
|
[27]
|
INTERACTION WITH AATF.
DOI=10.1016/S1535-6108(02)00182-4; PubMed=12450794 [NCBI, ExPASy, EBI, Israel, Japan]
Bruno T.,
De Angelis R.,
De Nicola F.,
Barbato C.,
Di Padova M.,
Corbi N.,
Libri V.,
Benassi B.,
Mattei E.,
Chersi A.,
Soddu S.,
Floridi A.,
Passananti C.,
Fanciulli M.;
"Che-1 affects cell growth by interfering with the recruitment of HDAC1 by Rb.";
Cancer Cell 2:387-399(2002).
|
[28]
|
INTERACTION WITH TMPO-ALPHA AND LMNA.
DOI=10.1091/mbc.E02-07-0450; PubMed=12475961 [NCBI, ExPASy, EBI, Israel, Japan]
Markiewicz E.,
Dechat T.,
Foisner R.,
Quinlan R.A.,
Hutchison C.J.;
"Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein.";
Mol. Biol. Cell 13:4401-4413(2002).
|
[29]
|
INTERACTION WITH PELP1.
DOI=10.1074/jbc.M212822200; PubMed=12682072 [NCBI, ExPASy, EBI, Israel, Japan]
Balasenthil S.,
Vadlamudi R.K.;
"Functional interactions between the estrogen receptor coactivator PELP1/MNAR and retinoblastoma protein.";
J. Biol. Chem. 278:22119-22127(2003).
|
[30]
|
INTERACTION WITH LIN9.
DOI=10.1038/sj.emboj.7600470; PubMed=15538385 [NCBI, ExPASy, EBI, Israel, Japan]
Gagrica S.,
Hauser S.,
Kolfschoten I.,
Osterloh L.,
Agami R.,
Gaubatz S.;
"Inhibition of oncogenic transformation by mammalian Lin-9, a pRB-associated protein.";
EMBO J. 23:4627-4638(2004).
|
[31]
|
INTERACTION WITH JMJD2A.
DOI=10.1074/jbc.M413687200; PubMed=15927959 [NCBI, ExPASy, EBI, Israel, Japan]
Gray S.G.,
Iglesias A.H.,
Lizcano F.,
Villanueva R.,
Camelo S.,
Jingu H.,
Teh B.T.,
Koibuchi N.,
Chin W.W.,
Kokkotou E.,
Dangond F.;
"Functional characterization of JMJD2A, a histone deacetylase- and retinoblastoma-binding protein.";
J. Biol. Chem. 280:28507-28518(2005).
|
[32]
|
INTERACTION WITH JARID1B.
DOI=10.1038/modpathol.3800413; PubMed=15803180 [NCBI, ExPASy, EBI, Israel, Japan]
Roesch A.,
Becker B.,
Meyer S.,
Wild P.,
Hafner C.,
Landthaler M.,
Vogt T.;
"Retinoblastoma-binding protein 2-homolog 1: a retinoblastoma-binding protein downregulated in malignant melanomas.";
Mod. Pathol. 18:1249-1257(2005).
|
[33]
|
INTERACTION WITH JARID1A.
DOI=10.1016/j.molcel.2005.05.012; PubMed=15949438 [NCBI, ExPASy, EBI, Israel, Japan]
Benevolenskaya E.V.,
Murray H.L.,
Branton P.,
Young R.A.,
Kaelin W.G. Jr.;
"Binding of pRB to the PHD protein RBP2 promotes cellular differentiation.";
Mol. Cell 18:623-635(2005).
|
[34]
|
INTERACTION WITH ZUBR1.
DOI=10.1073/pnas.0507458102; PubMed=16214886 [NCBI, ExPASy, EBI, Israel, Japan]
Nakatani Y.,
Konishi H.,
Vassilev A.,
Kurooka H.,
Ishiguro K.,
Sawada J.,
Ikura T.,
Korsmeyer S.J.,
Qin J.,
Herlitz A.M.;
"p600, a unique protein required for membrane morphogenesis and cell survival.";
Proc. Natl. Acad. Sci. U.S.A. 102:15093-15098(2005).
|
[35]
|
INTERACTION WITH JARID1B.
DOI=10.1038/sj.jid.5700324; PubMed=16645588 [NCBI, ExPASy, EBI, Israel, Japan]
Roesch A.,
Becker B.,
Schneider-Brachert W.,
Hagen I.,
Landthaler M.,
Vogt T.;
"Re-expression of the retinoblastoma-binding protein 2-homolog 1 reveals tumor-suppressive functions in highly metastatic melanoma cells.";
J. Invest. Dermatol. 126:1850-1859(2006).
|
[36]
|
REVIEW.
DOI=10.1007/PL00000883; PubMed=11361093 [NCBI, ExPASy, EBI, Israel, Japan]
Cooper S.,
Shayman J.A.;
"Revisiting retinoblastoma protein phosphorylation during the mammalian cell cycle.";
Cell. Mol. Life Sci. 58:580-595(2001).
|
[37]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-249; THR-252; THR-356 AND THR-373, AND MASS SPECTROMETRY.
DOI=10.1021/pr0705441; PubMed=18220336 [NCBI, ExPASy, EBI, Israel, Japan]
Cantin G.T.,
Yi W.,
Lu B.,
Park S.K.,
Xu T.,
Lee J.-D.,
Yates J.R. III;
"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.";
J. Proteome Res. 7:1346-1351(2008).
|
[38]
|
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 378-562.
DOI=10.1038/nsb0597-390; PubMed=9145110 [NCBI, ExPASy, EBI, Israel, Japan]
Kim H.Y.,
Cho Y.;
"Structural similarity between the pocket region of retinoblastoma tumour suppressor and the cyclin-box.";
Nat. Struct. Biol. 4:390-395(1997).
|
[39]
|
X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 380-785.
DOI=10.1038/36038; PubMed=9495340 [NCBI, ExPASy, EBI, Israel, Japan]
Lee J.O.,
Russo A.A.,
Pavletich N.P.;
"Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7.";
Nature 391:859-865(1998).
|
[40]
|
X-RAY CRYSTALLOGRAPHY (1.67 ANGSTROMS) OF 380-787 IN COMPLEX WITH HUMAN ADENOVIRUS E1A PROTEIN.
DOI=10.1101/gad.1590607; PubMed=17974914 [NCBI, ExPASy, EBI, Israel, Japan]
Liu X.,
Marmorstein R.;
"Structure of the retinoblastoma protein bound to adenovirus E1A reveals the molecular basis for viral oncoprotein inactivation of a tumor suppressor.";
Genes Dev. 21:2711-2716(2007).
|
[41]
|
VARIANT RB LEU-567.
PubMed=2594029 [NCBI, ExPASy, EBI, Israel, Japan]
Yandell D.W.,
Campbell T.A.,
Dayton S.H.,
Petersen R.,
Walton D.,
Little J.B.,
McConkie-Rosell A.,
Buckley E.,
Dryja T.P.;
"Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.";
N. Engl. J. Med. 321:1689-1695(1989).
|
[42]
|
VARIANT RB TRP-661.
PubMed=1352883 [NCBI, ExPASy, EBI, Israel, Japan]
Onadim Z.,
Hogg A.,
Baird P.N.,
Cowell J.K.;
"Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.";
Proc. Natl. Acad. Sci. U.S.A. 89:6177-6181(1992).
|
[43]
|
VARIANT RB ARG-457.
PubMed=8346255 [NCBI, ExPASy, EBI, Israel, Japan]
Hogg A.,
Bia B.,
Onadim Z.,
Cowell J.K.;
"Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.";
Proc. Natl. Acad. Sci. U.S.A. 90:7351-7355(1993).
|
[44]
|
VARIANT RB ARG-530.
PubMed=7704558 [NCBI, ExPASy, EBI, Israel, Japan]
Cowell J.K.,
Smith T.,
Bia B.;
"Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.";
Eur. J. Hum. Genet. 2:281-290(1994).
|
[45]
|
VARIANTS RB ASN-480 DEL AND TRP-661.
DOI=10.1007/BF00201591; PubMed=7927327 [NCBI, ExPASy, EBI, Israel, Japan]
Lohmann D.R.,
Brandt B.,
Hoepping W.,
Passarge E.,
Horsthemke B.;
"Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.";
Hum. Genet. 94:349-354(1994).
|
[46]
|
VARIANTS RB GLN-72; TYR-549 AND LYS-803.
PubMed=8605116 [NCBI, ExPASy, EBI, Israel, Japan]
Liu Z.,
Song Y.,
Bia B.,
Cowell J.K.;
"Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.";
Genes Chromosomes Cancer 14:277-284(1995).
|
[47]
|
VARIANTS RB THR-185; PRO-635; GLU-654 AND PRO-685.
DOI=10.1093/hmg/4.3.383; PubMed=7795591 [NCBI, ExPASy, EBI, Israel, Japan]
Blanquet V.,
Turleau C.,
Gross-Morand M.S.,
Senamaud-Beaufort C.,
Doz F.,
Besmond C.;
"Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.";
Hum. Mol. Genet. 4:383-388(1995).
|
[48]
|
VARIANTS RB GLY-358; PRO-657 AND TRP-661.
DOI=10.1093/hmg/5.6.755; PubMed=8776589 [NCBI, ExPASy, EBI, Israel, Japan]
Van Orsouw N.J.,
Li D.,
van der Vlies P.,
Scheffer H.,
Eng C.,
Buys C.H.C.M.,
Li F.P.,
Vijg J.;
"Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.";
Hum. Mol. Genet. 5:755-761(1996).
|
[49]
|
VARIANTS RB ASP-137 AND TRP-661.
PubMed=9311732 [NCBI, ExPASy, EBI, Israel, Japan]
Lohmann D.R.,
Gerick M.,
Brandt B.,
Oelschlaeger U.,
Lorenz B.,
Passarge E.,
Horsthemke B.;
"Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.";
Am. J. Hum. Genet. 61:282-294(1997).
|
[50]
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VARIANT RB GLN-447.
DOI=10.1016/S0165-4608(96)00387-1; PubMed=9140452 [NCBI, ExPASy, EBI, Israel, Japan]
Mateu E.,
Sanchez F.,
Najera C.,
Beneyto M.,
Castell V.,
Hernandez M.,
Serra I.,
Prieto F.;
"Genetics of retinoblastoma: a study.";
Cancer Genet. Cytogenet. 95:40-50(1997).
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[51]
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VARIANTS RB LEU-567; PRO-662 AND ARG-712.
DOI=10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.3.CO;2-Z; PubMed=10671068 [NCBI, ExPASy, EBI, Israel, Japan]
Yilmaz S.,
Horsthemke B.,
Lohmann D.R.;
"Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma.";
Hum. Mutat. 12:434-434(1998).
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[52]
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VARIANT RB GLU-310.
DOI=10.1086/302254; PubMed=9973307 [NCBI, ExPASy, EBI, Israel, Japan]
Klutz M.,
Horsthemke B.,
Lohmann D.R.;
"RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.";
Am. J. Hum. Genet. 64:667-668(1999).
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[53]
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VARIANTS RB GLY-500 AND GLU-616.
DOI=10.1002/humu.1184; PubMed=11524739 [NCBI, ExPASy, EBI, Israel, Japan]
Yu Y.S.,
Kim I.-J.,
Ku J.-L.,
Park J.-G.;
"Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.";
Hum. Mutat. 18:252-252(2001).
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