183 related articles for article (PubMed ID: 18583467)
1. 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. PubMed ID: 18583467
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 22066718
[TBL] [Abstract][Full Text] [Related]
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; 19(10):2028-38. PubMed ID: 20190276
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20463099
[TBL] [Abstract][Full Text] [Related]
5. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
Canaff L; Zhou X; Mosesova I; Cole DE; Hendy GN
Hum Mutat; 2009 Jan; 30(1):85-92. PubMed ID: 18712808
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 15728199
[TBL] [Abstract][Full Text] [Related]
7. Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
Cinque L; Sparaneo A; Penta L; Mencarelli A; Rogaia D; Esposito S; Fabrizio FP; Baorda F; Verrotti A; Falorni A; Stangoni G; Hendy GN; Guarnieri V; Prontera P
J Clin Endocrinol Metab; 2017 Nov; 102(11):3961-3969. PubMed ID: 28938448
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 21642377
[TBL] [Abstract][Full Text] [Related]
9. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
Ding C; Buckingham B; Levine MA
J Clin Invest; 2001 Oct; 108(8):1215-20. PubMed ID: 11602629
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 24133354
[TBL] [Abstract][Full Text] [Related]
11. Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L; Guarnieri V; Kim Y; Wong BYL; Nolin-Lapalme A; Cole DEC; Minisola S; Eller-Vainicher C; Cetani F; Repaci A; Turchetti D; Corbetta S; Scillitani A; Goltzman D
Eur J Endocrinol; 2022 Feb; 186(3):351-366. PubMed ID: 35038313
[TBL] [Abstract][Full Text] [Related]
12. A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
Sticht H; Hashemolhosseini S
Med Hypotheses; 2006; 67(3):482-7. PubMed ID: 16697534
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 25137426
[TBL] [Abstract][Full Text] [Related]
14. Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
Obermannova B; Sumnik Z; Dusatkova P; Cinek O; Grant M; Lebl J; Hendy GN
Eur J Endocrinol; 2016 Apr; 174(4):K1-K11. PubMed ID: 26764418
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.
Alvarez-Hernández D; Santamaría I; Rodríguez-García M; Iglesias P; Delgado-Lillo R; Cannata-Andía JB
J Mol Endocrinol; 2003 Oct; 31(2):255-62. PubMed ID: 14519094
[TBL] [Abstract][Full Text] [Related]
16. CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V; Valentina D'Elia A; Baorda F; Pazienza V; Benegiamo G; Stanziale P; Copetti M; Battista C; Grimaldi F; Damante G; Pellegrini F; D'Agruma L; Zelante L; Carella M; Scillitani A
Mol Genet Metab; 2012 Nov; 107(3):548-52. PubMed ID: 22789683
[TBL] [Abstract][Full Text] [Related]
17. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B; Endo I; Ohnishi Y; Kondo T; Hasegawa T; Amizuka N; Kiyonari H; Shioi G; Abe M; Fukumoto S; Matsumoto T
J Bone Miner Res; 2015 Nov; 30(11):1980-93. PubMed ID: 25967373
[TBL] [Abstract][Full Text] [Related]
18. The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
Løvlie R; Eiken HG; Sørheim JI; Boman H
Hum Genet; 1996 Aug; 98(2):129-33. PubMed ID: 8698326
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 20484821
[TBL] [Abstract][Full Text] [Related]
20. Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
Hawkes CP; Al Jubeh JM; Li D; Tucker SE; Rajiyah T; Levine MA
J Clin Endocrinol Metab; 2022 May; 107(6):e2449-e2458. PubMed ID: 35165722
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
