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Items: 1 to 20 of 170

1.

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.

Yi HS, Eom YS, Park IeB, Lee S, Hong S, Jüppner H, Mannstadt M, Lee S.

Clin Endocrinol (Oxf). 2012 May;76(5):625-33. doi: 10.1111/j.1365-2265.2011.04256.x.

2.

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C.

J Clin Endocrinol Metab. 2008 Sep;93(9):3568-76. doi: 10.1210/jc.2007-2167. Epub 2008 Jun 26.

3.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV.

Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.

PMID:
20190276
4.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV.

J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12.

PMID:
20463099
5.

Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.

Mannstadt M, Holick E, Zhao W, Jüppner H.

J Endocrinol. 2011 Aug;210(2):165-71. doi: 10.1530/JOE-10-0247. Epub 2011 Jun 3.

6.

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.

Sticht H, Hashemolhosseini S.

Med Hypotheses. 2006;67(3):482-7. Epub 2006 May 12.

PMID:
16697534
7.
8.

Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.

Tomar N, Bora H, Singh R, Gupta N, Kaur P, Chauhan SS, Sharma YD, Goswami R.

Eur J Endocrinol. 2010 Feb;162(2):407-21. doi: 10.1530/EJE-09-0303. Epub 2009 Nov 25.

9.

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

Thomée C, Schubert SW, Parma J, Lê PQ, Hashemolhosseini S, Wegner M, Abramowicz MJ.

J Clin Endocrinol Metab. 2005 May;90(5):2487-92. Epub 2005 Feb 22.

PMID:
15728199
10.
11.

Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2.

Grigorieva IV, Mirczuk S, Gaynor KU, Nesbit MA, Grigorieva EF, Wei Q, Ali A, Fairclough RJ, Stacey JM, Stechman MJ, Mihai R, Kurek D, Fraser WD, Hough T, Condie BG, Manley N, Grosveld F, Thakker RV.

J Clin Invest. 2010 Jun;120(6):2144-55. doi: 10.1172/JCI42021. Epub 2010 May 17.

12.

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV.

J Biol Chem. 2004 May 21;279(21):22624-34. Epub 2004 Feb 24.

13.

Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.

Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S.

J Korean Med Sci. 2013 Oct;28(10):1489-95. doi: 10.3346/jkms.2013.28.10.1489. Epub 2013 Sep 25.

14.

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV.

J Clin Endocrinol Metab. 2009 Oct;94(10):3897-904. doi: 10.1210/jc.2009-0717. Epub 2009 Sep 1.

PMID:
19723756
15.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV.

Hum Mol Genet. 2007 Feb 1;16(3):265-75. Epub 2007 Jan 8.

PMID:
17210674
16.

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T.

J Clin Endocrinol Metab. 2014 Nov;99(11):E2421-8. doi: 10.1210/jc.2014-2174. Epub 2014 Aug 19.

PMID:
25137426
17.

Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T.

J Clin Endocrinol Metab. 1998 Jul;83(7):2497-502.

PMID:
9661634
18.

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR.

J Biol Chem. 2001 Jul 27;276(30):27864-72. Epub 2001 Apr 25.

19.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK.

Physiol Genomics. 2009 Nov 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11.

20.

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5.

PMID:
16565402

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