Suppr超能文献

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

作者信息

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

出版信息

J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898.

Abstract
摘要

相似文献

5
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
Med Hypotheses. 2006;67(3):482-7. doi: 10.1016/j.mehy.2006.01.062. Epub 2006 May 12.
8
[Familial isolated hypoparathyroidism].
Nihon Rinsho. 2006 Jun 28;Suppl 2:43-5.
9
[Genes causing parathyroid diseases].
Clin Calcium. 2005 Dec;15(12):38-44.
10
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
J Clin Endocrinol Metab. 2008 Apr;93(4):1426-32. doi: 10.1210/jc.2007-1783. Epub 2008 Jan 8.

引用本文的文献

2
Glial Cell Missing Homolog 2 Mutation Causing Severe Hypoparathyroidism: Report of Two Cases With Novel Mutations.
J Endocr Soc. 2022 Nov 16;7(1):bvac166. doi: 10.1210/jendso/bvac166. eCollection 2022 Nov 17.
3
Calcium Transport in the Kidney and Disease Processes.
Front Endocrinol (Lausanne). 2022 Mar 1;12:762130. doi: 10.3389/fendo.2021.762130. eCollection 2021.
4
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Eur J Endocrinol. 2022 Feb 4;186(3):351-366. doi: 10.1530/EJE-21-0433.
5
Familial Hyperparathyroidism.
Front Endocrinol (Lausanne). 2021 Feb 25;12:623667. doi: 10.3389/fendo.2021.623667. eCollection 2021.
6
Clinical and Molecular Genetics of Primary Hyperparathyroidism.
Horm Metab Res. 2020 Aug;52(8):578-587. doi: 10.1055/a-1132-6223. Epub 2020 Mar 30.
8
Calcium-Sensing Receptor Gene: Regulation of Expression.
Front Physiol. 2016 Sep 13;7:394. doi: 10.3389/fphys.2016.00394. eCollection 2016.
9
10
Generation of mice encoding a conditional null allele of Gcm2.
Transgenic Res. 2014 Aug;23(4):631-41. doi: 10.1007/s11248-014-9799-7. Epub 2014 Apr 16.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验