[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-1), AND VARIANT ILE-337.
TISSUE=Placenta;
DOI=10.1038/324641a0; PubMed=2879243 [NCBI, ExPASy, EBI, Israel, Japan]
Weinberger C.,
Thompson C.C.,
Ong E.S.,
Lebo R.,
Gruol D.J.,
Evans R.M.;
"The c-erb-A gene encodes a thyroid hormone receptor.";
Nature 324:641-646(1986).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-1), AND VARIANT ILE-337.
PubMed=3034496 [NCBI, ExPASy, EBI, Israel, Japan]
Weinberger C.,
Giguere V.,
Hollenberg S.,
Rosenfeld M.G.,
Evans R.M.;
"Human steroid receptors and erbA proto-oncogene products: members of a new superfamily of enhancer binding proteins.";
Cold Spring Harb. Symp. Quant. Biol. 51:759-772(1988).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA], AND SEQUENCE REVISION.
DOI=10.1016/0303-7207(90)90245-4; PubMed=1973914 [NCBI, ExPASy, EBI, Israel, Japan]
Sakurai A.,
Nakai A.,
Degroot L.J.;
"Structural analysis of human thyroid hormone receptor beta gene.";
Mol. Cell. Endocrinol. 71:83-91(1990).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BETA-1).
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).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-122 (ISOFORM BETA-2).
TISSUE=Pituitary;
Damm K.,
Berning B.;
"Differential expression and transcriptional regulatory properties of the thyroid hormone receptor Beta1 and Beta2.";
Submitted (AUG-1993) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-122 (ISOFORM BETA-1).
TISSUE=Brain, Kidney, Placenta, and Testis;
DOI=10.1210/me.2003-0346; PubMed=15105435 [NCBI, ExPASy, EBI, Israel, Japan]
Frankton S.,
Harvey C.B.,
Gleason L.M.,
Fadel A.,
Williams G.R.;
"Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1.";
Mol. Endocrinol. 18:1631-1642(2004).
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[7]
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INTERACTION WITH NOCA7.
DOI=10.1128/MCB.22.10.3358-3372.2002; PubMed=11971969 [NCBI, ExPASy, EBI, Israel, Japan]
Shao W.,
Halachmi S.,
Brown M.;
"ERAP140, a conserved tissue-specific nuclear receptor coactivator.";
Mol. Cell. Biol. 22:3358-3372(2002).
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[8]
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X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 102-212.
DOI=10.1038/375203a0; PubMed=7746322 [NCBI, ExPASy, EBI, Israel, Japan]
Rastinejad F.,
Perlmann T.,
Evans R.M.,
Sigler P.B.;
"Structural determinants of nuclear receptor assembly on DNA direct repeats.";
Nature 375:203-211(1995).
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[9]
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VARIANT GTHR THR-234.
DOI=10.1210/me.6.7.1119; PubMed=1324420 [NCBI, ExPASy, EBI, Israel, Japan]
Behr M.,
Loos U.;
"A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.";
Mol. Endocrinol. 6:1119-1126(1992).
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[10]
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VARIANT PRTH HIS-316.
PubMed=8381821 [NCBI, ExPASy, EBI, Israel, Japan]
Geffner M.E.,
Su F.,
Ross N.S.,
Hershman J.M.,
van Dop C.,
Menke J.B.,
Hao E.,
Stanzak R.K.,
Eaton T.,
Samuels H.H.,
Usala S.J.;
"An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.";
J. Clin. Invest. 91:538-546(1993).
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[11]
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VARIANTS GTHR THR-317; CYS-320; HIS-320; TRP-338; HIS-438 AND THR-453.
PubMed=8514853 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss R.E.,
Weinberg M.,
Refetoff S.;
"Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.";
J. Clin. Invest. 91:2408-2415(1993).
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[12]
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VARIANTS GTHR THR-317; ARG-332; VAL-345; GLU-347; VAL-442 AND THR-453.
PubMed=1661299 [NCBI, ExPASy, EBI, Israel, Japan]
Parrilla R.,
Mixson A.J.,
McPherson J.A.,
McClaskey J.H.,
Weintraub B.D.;
"Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two 'hot spot' regions of the ligand binding domain.";
J. Clin. Invest. 88:2123-2130(1991).
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[13]
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VARIANT GTHR HIS-320.
DOI=10.1210/jc.74.5.1164; PubMed=1314846 [NCBI, ExPASy, EBI, Israel, Japan]
Cugini C.D. Jr.,
Leidy J.W. Jr.,
Chertow B.S.,
Berard J.,
Bradley W.E.C.,
Menke J.B.,
Hao E.-H.,
Usala S.J.;
"An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.";
J. Clin. Endocrinol. Metab. 74:1164-1170(1992).
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[14]
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VARIANT GTHR THR-337 DEL.
PubMed=1653889 [NCBI, ExPASy, EBI, Israel, Japan]
Usala S.J.,
Menke J.B.,
Watson T.L.,
Wondisford F.E.,
Weintraub B.D.,
Berard J.,
Bradley W.E.C.,
Ono S.,
Mueller O.T.,
Bercu B.B.;
"A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.";
Mol. Endocrinol. 5:327-335(1991).
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[15]
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VARIANT GTHR HIS-340.
PubMed=1846005 [NCBI, ExPASy, EBI, Israel, Japan]
Usala S.J.,
Menke J.B.,
Watson T.L.,
Berard J.,
Bradley W.E.C.,
Bale A.E.,
Lash R.W.,
Weintraub B.D.;
"A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.";
J. Clin. Endocrinol. Metab. 72:32-38(1991).
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[16]
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VARIANT GTHR SER-345.
PubMed=1563081 [NCBI, ExPASy, EBI, Israel, Japan]
Adams M.,
Nagaya T.,
Tone Y.,
Jameson J.L.,
Chatterjee V.K.K.;
"Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.";
Clin. Endocrinol. (Oxf.) 36:281-289(1992).
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[17]
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VARIANT GTHR ARG-345.
PubMed=2510172 [NCBI, ExPASy, EBI, Israel, Japan]
Sakurai A.,
Takeda K.,
Ain K.,
Ceccarelli P.,
Nakai A.,
Seino S.,
Bell G.I.,
Refetoff S.,
Degroot L.;
"Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.";
Proc. Natl. Acad. Sci. U.S.A. 86:8977-8981(1989).
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[18]
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VARIANT GTHR GLU-443.
DOI=10.1016/0303-7207(92)90026-3; PubMed=1587388 [NCBI, ExPASy, EBI, Israel, Japan]
Sasaki S.,
Nakamura H.,
Tagami T.,
Miyoshi Y.,
Tanaka K.,
Imura H.;
"A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.";
Mol. Cell. Endocrinol. 84:159-166(1992).
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[19]
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VARIANT GTHR ARG-446.
DOI=10.1210/jc.78.5.1253; PubMed=8175986 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss R.E.,
Chyna B.,
Duell P.B.,
Hayashi Y.,
Sunthornthepvarakul T.,
Refetoff S.;
"A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.";
J. Clin. Endocrinol. Metab. 78:1253-1256(1994).
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[20]
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VARIANT GTHR HIS-453.
PubMed=2153155 [NCBI, ExPASy, EBI, Israel, Japan]
Usala S.J.,
Tennyson G.E.,
Bale A.E.,
Lash R.W.,
Gesundheit N.,
Wondisford F.E.,
Accili D.,
Hauser P.,
Weintraub B.D.;
"A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.";
J. Clin. Invest. 85:93-100(1990).
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[21]
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VARIANT GTHR THR-453.
DOI=10.1210/jc.75.1.213; PubMed=1619012 [NCBI, ExPASy, EBI, Israel, Japan]
Shuto Y.,
Wakabayashi I.,
Amuro N.,
Minami S.,
Okazaki T.;
"A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.";
J. Clin. Endocrinol. Metab. 75:213-217(1992).
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[22]
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VARIANT GTHR SER-453.
PubMed=7833659 [NCBI, ExPASy, EBI, Israel, Japan]
Refetoff S.,
Weiss R.E.,
Wing J.R.,
Sarne D.,
Chyna B.,
Hayashi Y.;
"Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.";
Thyroid 4:249-254(1994).
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[23]
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VARIANT GTHR TRP-243.
DOI=10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.3.CO;2-H; PubMed=8664910 [NCBI, ExPASy, EBI, Israel, Japan]
Pohlenz J.,
Schoenberger W.,
Wemme H.,
Winterpacht A.,
Wirth S.,
Zabel B.;
"New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.";
Hum. Mutat. 7:79-81(1996).
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[24]
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VARIANTS GTHR THR-317; TRP-338; ILE-342 AND GLU-348.
DOI=10.1002/(SICI)1098-1004(1996)8:3<247::AID-HUMU8>3.3.CO;2-C; PubMed=8889584 [NCBI, ExPASy, EBI, Israel, Japan]
Seto D.,
Weintraub B.D.;
"Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.";
Hum. Mutat. 8:247-257(1996).
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[25]
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VARIANT GTHR ILE-426.
PubMed=10660344 [NCBI, ExPASy, EBI, Israel, Japan]
Menzaghi C.,
di Paola R.,
Corrias A.,
Einaudi S.,
Trischitta V.,
de Sanctis C.,
de Filippis V.;
"T426I a new mutation in the thyroid hormone receptor gene in a sporadic patient with resistance to thyroid hormone and dysmorphism.";
Hum. Mutat. 12:289-289(1998).
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[26]
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VARIANT GTHR TRP-338.
DOI=10.1210/jc.2006-0727; PubMed=16804041 [NCBI, ExPASy, EBI, Israel, Japan]
Mamanasiri S.,
Yesil S.,
Dumitrescu A.M.,
Liao X.-H.,
Demir T.,
Weiss R.E.,
Refetoff S.;
"Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.";
J. Clin. Endocrinol. Metab. 91:3471-3477(2006).
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