[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Ovary;
DOI=10.1016/0006-291X(90)91552-4; PubMed=2244890 [NCBI, ExPASy, EBI, Israel, Japan]
Minegish T.,
Nakamura K.,
Takakura Y.,
Miyamoto K.,
Hasegawa Y.,
Ibuki Y.,
Igarashi M.;
"Cloning and sequencing of human LH/hCG receptor cDNA.";
Biochem. Biophys. Res. Commun. 172:1049-1054(1990).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Ovary;
PubMed=1922095 [NCBI, ExPASy, EBI, Israel, Japan]
Jia X.-C.,
Oikawa M.,
Bo M.,
Tanaka T.,
Ny T.,
Boime I.,
Hsueh A.J.W.;
"Expression of human luteinizing hormone (LH) receptor: interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species.";
Mol. Endocrinol. 5:759-768(1991).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Thyroid;
PubMed=2293030 [NCBI, ExPASy, EBI, Israel, Japan]
Frazier A.L.,
Robbins L.S.,
Stork P.J.,
Sprengel R.,
Segaloff D.L.,
Cone R.D.;
"Isolation of TSH and LH/CG receptor cDNAs from human thyroid: regulation by tissue specific splicing.";
Mol. Endocrinol. 4:1264-1276(1990).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-GLN-18 INS.
DOI=10.1016/0303-7207(95)03557-N; PubMed=7556872 [NCBI, ExPASy, EBI, Israel, Japan]
Atger M.,
Misrahi M.,
Sar S.,
Leflem L.,
Dessen P.,
Milgrom E.;
"Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions.";
Mol. Cell. Endocrinol. 111:113-123(1995).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-54, AND VARIANT LEU-GLN-18 INS.
DOI=10.1159/000022840; PubMed=9858858 [NCBI, ExPASy, EBI, Israel, Japan]
Tsai-Morris C.-H.,
Geng Y.,
Buczko E.,
Dehejia A.,
Dufau M.L.;
"Genomic distribution and gonadal mRNA expression of two human luteinizing hormone receptor exon 1 sequences in random populations.";
Hum. Hered. 49:48-51(1999).
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[6]
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3D-STRUCTURE MODELING OF 51-232.
DOI=10.1016/S0969-2126(01)00272-6; PubMed=8747461 [NCBI, ExPASy, EBI, Israel, Japan]
Jiang X.,
Dreano M.,
Buckler D.R.,
Cheng S.,
Ythier A.,
Wu H.,
Hendrickson W.A.,
el Tayar N.;
"Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions.";
Structure 3:1341-1353(1995).
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[7]
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PALMITOYLATION AT CYS-643 AND CYS-644, AND MUTAGENESIS OF CYS-643 AND CYS-644.
DOI=10.1210/me.2004-0335; PubMed=15539429 [NCBI, ExPASy, EBI, Israel, Japan]
Munshi U.M.,
Clouser C.L.,
Peegel H.,
Menon K.M.;
"Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing.";
Mol. Endocrinol. 19:749-758(2005).
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[8]
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VARIANT FMPP GLY-578.
DOI=10.1038/365652a0; PubMed=7692306 [NCBI, ExPASy, EBI, Israel, Japan]
Shenker A.,
Laue L.,
Kosugi S.,
Merendino J.J. Jr.,
Minegishi T.,
Cutler G.B. Jr.;
"A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.";
Nature 365:652-654(1993).
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[9]
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VARIANTS FMPP ILE-571 AND GLY-578.
DOI=10.1093/hmg/2.11.1779; PubMed=8281137 [NCBI, ExPASy, EBI, Israel, Japan]
Kremer H.,
Mariman E.,
Otten B.J.,
Moll G.W. Jr.,
Stoelinga G.B.A.,
Wit J.M.,
Jansen M.,
Drop S.L.,
Faas B.,
Ropers H.-H.,
Brunner H.G.;
"Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.";
Hum. Mol. Genet. 2:1779-1783(1993).
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[10]
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VARIANT FMPP ILE-577.
DOI=10.1093/hmg/4.2.183; PubMed=7757065 [NCBI, ExPASy, EBI, Israel, Japan]
Kosugi S.,
van Dop C.,
Geffner M.E.,
Rabl W.,
Carel J.-C.,
Chaussain J.-L.,
Mori T.,
Merendino J.J. Jr.,
Shenker A.;
"Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.";
Hum. Mol. Genet. 4:183-188(1995).
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[11]
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VARIANT FMPP VAL-572.
DOI=10.1210/jc.80.4.1162; PubMed=7714085 [NCBI, ExPASy, EBI, Israel, Japan]
Yano K.,
Saji M.,
Hidaka A.,
Moriya N.,
Okuno A.,
Kohn L.D.,
Cutler G.B. Jr.;
"A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.";
J. Clin. Endocrinol. Metab. 80:1162-1168(1995).
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[12]
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VARIANT FMPP VAL-568.
DOI=10.1210/jc.80.8.2490; PubMed=7629248 [NCBI, ExPASy, EBI, Israel, Japan]
Latronico A.C.,
Anasti J.,
Arnhold I.J.,
Mendonca B.B.,
Domenice S.,
Albano M.C.,
Zachman K.,
Wajchenberg B.L.,
Tsigos C.;
"A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.";
J. Clin. Endocrinol. Metab. 80:2490-2494(1995).
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[13]
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VARIANT LCH PRO-593.
DOI=10.1038/ng0295-160; PubMed=7719343 [NCBI, ExPASy, EBI, Israel, Japan]
Kremer H.,
Kraaij R.,
Toledo S.P.A.,
Post M.,
Fridman J.B.,
Hayashida C.Y.,
van Reen M.,
Milgrom E.,
Ropers H.-H.,
Mariman E.,
Themmen A.P.N.,
Brunner H.G.;
"Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.";
Nat. Genet. 9:160-164(1995).
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[14]
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VARIANT FMPP ILE-577.
DOI=10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.3.CO;2-B; PubMed=8829636 [NCBI, ExPASy, EBI, Israel, Japan]
Cocco S.,
Meloni A.,
Marini M.G.,
Cao A.,
Moi P.;
"A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.";
Hum. Mutat. 7:164-166(1996).
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[15]
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VARIANT FMPP THR-398.
PubMed=8929952 [NCBI, ExPASy, EBI, Israel, Japan]
Evans B.A.J.,
Bowen D.J.,
Smith P.J.,
Clayton P.E.,
Gregory J.W.;
"A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.";
J. Med. Genet. 33:143-147(1996).
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[16]
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VARIANT LCH TYR-616.
DOI=10.1056/NEJM199602223340805; PubMed=8559204 [NCBI, ExPASy, EBI, Israel, Japan]
Latronico A.C.,
Anasti J.,
Arnhold I.J.P.,
Rapaport R.,
Mendonca B.B.,
Bloise W.,
Castro M.,
Tsigos C.,
Chrousos G.P.;
"Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.";
N. Engl. J. Med. 334:507-512(1996).
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[17]
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VARIANT LCH ARG-131.
DOI=10.1210/jc.82.7.2159; PubMed=9215288 [NCBI, ExPASy, EBI, Israel, Japan]
Misrahi M.,
Meduri G.,
Pissard S.,
Bouvattier C.,
Beau I.,
Loosfelt H.,
Jolivet A.,
Rappaport R.,
Milgrom E.,
Bougneres P.;
"Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.";
J. Clin. Endocrinol. Metab. 82:2159-2165(1997).
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[18]
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VARIANTS LEU-GLN-18 INS; SER-284 AND ASN-306.
DOI=10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.3.CO;2-4; PubMed=10215412 [NCBI, ExPASy, EBI, Israel, Japan]
Wu S.-M.,
Jose M.,
Hallermeier K.,
Rennert O.M.,
Chan W.-Y.;
"Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.";
Hum. Mutat. 11:333-334(1998).
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[19]
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VARIANT FMPP VAL-373.
DOI=10.1210/jc.83.2.476; PubMed=9467560 [NCBI, ExPASy, EBI, Israel, Japan]
Gromoll J.,
Partsch C.-J.,
Simoni M.,
Nordhoff V.,
Sippell W.G.,
Nieschlag E.,
Saxena B.B.;
"A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.";
J. Clin. Endocrinol. Metab. 83:476-480(1998).
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[20]
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VARIANT LCH LYS-354.
DOI=10.1210/jc.83.6.2091; PubMed=9626144 [NCBI, ExPASy, EBI, Israel, Japan]
Stavrou S.S.,
Zhu Y.S.,
Cai L.Q.,
Katz M.D.,
Herrera C.,
Defillo-Ricart M.,
Imperato-Mcginley J.;
"A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.";
J. Clin. Endocrinol. Metab. 83:2091-2098(1998).
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[21]
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VARIANT FMPP ARG-457.
DOI=10.1210/jc.83.7.2435; PubMed=9661624 [NCBI, ExPASy, EBI, Israel, Japan]
Latronico A.C.,
Abell A.N.,
Arnhold I.J.,
Liu X.,
Lins T.S.,
Brito V.N.,
Billerbeck A.E.,
Segaloff D.L.,
Mendonca B.B.;
"A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.";
J. Clin. Endocrinol. Metab. 83:2435-2440(1998).
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[22]
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VARIANT LEU-GLN-18 INS.
DOI=10.1210/jc.83.12.4431; PubMed=9851790 [NCBI, ExPASy, EBI, Israel, Japan]
Rodien P.,
Cetani F.,
Costagliola S.,
Tonacchera M.,
Duprez L.,
Minegishi T.,
Govaerts C.,
Vassart G.;
"Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors.";
J. Clin. Endocrinol. Metab. 83:4431-4434(1998).
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[23]
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VARIANT LCH 608-LEU-VAL-609 DEL.
DOI=10.1210/me.12.3.442; PubMed=9514160 [NCBI, ExPASy, EBI, Israel, Japan]
Latronico A.C.,
Chai Y.,
Arnhold I.J.P.,
Liu X.,
Mendonca B.B.,
Segaloff D.L.;
"A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.";
Mol. Endocrinol. 12:442-450(1998).
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[24]
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VARIANT LCH LYS-625.
DOI=10.1210/me.12.6.775; PubMed=9626653 [NCBI, ExPASy, EBI, Israel, Japan]
Martens J.W.,
Verhoef-Post M.,
Abelin N.,
Ezabella M.,
Toledo S.P.,
Brunner H.G.,
Themmen A.P.;
"A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.";
Mol. Endocrinol. 12:775-784(1998).
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[25]
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VARIANT LEYDIG CELL TUMOR HIS-578.
DOI=10.1056/NEJM199912023412304; PubMed=10580072 [NCBI, ExPASy, EBI, Israel, Japan]
Liu G.,
Duranteau L.,
Carel J.-C.,
Monroe J.,
Doyle D.A.,
Shenker A.;
"Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.";
N. Engl. J. Med. 341:1731-1736(1999).
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[26]
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VARIANT [LARGE SCALE ANALYSIS] ASN-564.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F.,
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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