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

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

CONTEXT: The hypoparathyroidism, deafness, renal dysplasia (HDR) syndrome is caused by mutations in the gene encoding GATA3, which belongs to a family of dual zinc-finger transcription factors that have a role in vertebrate embryonic development. OBJECTIVE: The aim of the study was to identify the G...

ver descrição completa

Detalhes bibliográficos
Principais autores:	Gaynor, K, Grigorieva, I, Nesbit, M, Cranston, T, Gomes, T, Gortner, L, Thakker, R
Formato:	Journal article
Idioma:	English
Publicado em:	2009

Registros relacionados

HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
por: Gomes, T, et al.
Publicado em: (2012)

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
por: Nesbit, M, et al.
Publicado em: (2004)

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
por: Zahirieh, A, et al.
Publicado em: (2005)

Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
por: Zahirieh, A, et al.
Publicado em: (2005)

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
por: Bo Huang, et al.
Publicado em: (2024-03-01)

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
por: Li Wang, et al.
Publicado em: (2017-01-01)

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
por: Ali, A, et al.
Publicado em: (2007)

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
por: Mirczuk, S, et al.
Publicado em: (2010)

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
por: Looij, v, et al.
Publicado em: (2006)

Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
por: Bilous, R, et al.
Publicado em: (1992)

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
por: Catarina I. Gonçalves, et al.
Publicado em: (2023-08-01)

A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies
por: Dobbie, A, et al.
Publicado em: (2001)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation
por: Yong Suk Shim, et al.
Publicado em: (2015-03-01)

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
por: Luke Vroegindewey, et al.
Publicado em: (2024-12-01)

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome
por: Nobutaka Nishimura, et al.
Publicado em: (2020-11-01)

Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene
por: Haibin Chen, et al.
Publicado em: (2025-02-01)

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
por: Haruka Kishi, et al.
Publicado em: (2020-12-01)

GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.
por: Gaynor, K, et al.
Publicado em: (2013)

GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness
por: Gaynor, K, et al.
Publicado em: (2013)

A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2)
por: Gorvin, C, et al.
Publicado em: (2016)

Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.
por: Grigorieva, I, et al.
Publicado em: (2011)

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
por: Bowl, MR, et al.
Publicado em: (2010)

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism
por: Mannstadt, M, et al.
Publicado em: (2013)

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
por: Cranston, T, et al.
Publicado em: (2022)

Reproduction of Awassi and Hamdani Sheep Is Associated With a Novel Missense SNP (p.24Ile>Thr) of the Gene
por: Waleed A Abd Al-Jabar, et al.
Publicado em: (2024-08-01)

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
por: Anne D. D. Joseph, et al.
Publicado em: (2019-10-01)

Hypoparathyroidism
por: Bilezikian, J, et al.
Publicado em: (1997)

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
por: Hampson, G, et al.
Publicado em: (2003)

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
por: Tumelo M. Satekge, et al.
Publicado em: (2024-12-01)

Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia
por: Meenakshi Sundaram, et al.
Publicado em: (2010-06-01)

Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
por: Gaynor, KU, et al.
Publicado em: (2020)

A Deaf Child with Hypoparathyroidism: A Case Report
por: Fallah R, et al.
Publicado em: (2010-03-01)

A Deaf Child with Hypoparathyroidism: A Case Report
por: R Fallah, et al.
Publicado em: (2010-04-01)

Genetic developments in hypoparathyroidism.
por: Thakker, R
Publicado em: (2001)

Molecular genetics of hypoparathyroidism
por: Thakker, R
Publicado em: (2003)

Hypoparathyroidism - A Review of the Molecular Genetic Testing Service in Oxford
por: Cranston, T, et al.
Publicado em: (2008)

New candidate genes for X-linked recessive hypoparathyroidism.
por: Mumm, S, et al.
Publicado em: (1999)

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
por: Xiaoqing Zhang, et al.
Publicado em: (2016-01-01)

Hypoparathyroidism
por: Mannstadt, M, et al.
Publicado em: (2017)

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
por: Sumera Akram, et al.
Publicado em: (2020-10-01)