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Literature DB >> 15863676

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

L Baumber, C Tufarelli, S Patel, P King, C A Johnson, E R Maher, R C Trembath.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2005 PMID： 15863676 PMCID： PMC1736051 DOI： 10.1136/jmg.2004.026898

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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16 in total

1. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Authors: John P Bilezikian; Aliya Khan; John T Potts; Maria Luisa Brandi; Bart L Clarke; Dolores Shoback; Harald Jüppner; Pierre D'Amour; John Fox; Lars Rejnmark; Leif Mosekilde; Mishaela R Rubin; David Dempster; Rachel Gafni; Michael T Collins; Jim Sliney; James Sanders
Journal: J Bone Miner Res Date: 2011-10 Impact factor: 6.741

Review 2. Genetic variants of mineral metabolism in health and disease.

Authors: Cassianne Robinson-Cohen
Journal: Curr Opin Nephrol Hypertens Date: 2020-07 Impact factor: 2.894

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

Authors: Hyon-Seung Yi; Young Sil Eom; Ie Byung Park; Sangho Lee; Suntaek Hong; Harald Jüppner; Michael Mannstadt; Sihoon Lee
Journal: Clin Endocrinol (Oxf) Date: 2012-05 Impact factor: 3.478

4. A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.

Authors: Sihoon Lee; Michael Mannstadt; Jun Guo; Seul Min Kim; Hyon-Seung Yi; Ashok Khatri; Thomas Dean; Makoto Okazaki; Thomas J Gardella; Harald Jüppner
Journal: J Bone Miner Res Date: 2015-06-08 Impact factor: 6.741

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

Authors: Michael Mannstadt; Emily Holick; Wenping Zhao; Harald Jüppner
Journal: J Endocrinol Date: 2011-06-03 Impact factor: 4.286

6. Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Authors: Laura Southgate; Dimitra Dafou; Jacqueline Hoyle; Nan Li; Esther Kinning; Peter Critchley; Andrea H Németh; Kevin Talbot; Parayil S Bindu; Sanjib Sinha; Arun B Taly; Seetharam Raghavendra; Ferenc Müller; Eamonn R Maher; Richard C Trembath
Journal: Neurogenetics Date: 2010-10 Impact factor: 2.660

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

1. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Review 2. Genetic variants of mineral metabolism in health and disease.

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

4. A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.

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

6. Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

7. A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

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

9. Generation of mice encoding a conditional null allele of Gcm2.

10. Thymus-associated parathyroid hormone has two cellular origins with distinct endocrine and immunological functions.