Results 1 to 10 of about 10,255 (168)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15.
Yong Suk Shim, Woohyeok Choi, Il Tae Hwang, Seung Yang   +3 more
doaj   +4 more sources

GATA3 Zinc Finger 2 Mutations Reprogram the Breast Cancer Transcriptional Network [PDF]

Nature Communications, 2018
In breast cancer GATA3 is known to be frequently mutated, but the function of these mutations is unclear. Here, the authors utilise CRISPR-Cas9 to model frame-shift mutations in zinc finger 2 of GATA3, highlighting that GATA3 mutation can have gain- or ...
Charles M. Perou, Brian Bennett, Paul A Wade   +2 more
exaly   +4 more sources

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene.
Luke Vroegindewey, John Kim, Dennis J Joseph   +2 more
doaj   +2 more sources

Hypoparathyroidism, Deafness and Renal Dysplasia Syndrome Caused by a GATA3 Splice Site Mutation Leading to the Activation of a Cryptic Splice Site

Frontiers in Endocrinology, 2023
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene.
Catarina I Gonçalves, Manuel C. Lemos, Ebtesam Abdalla   +2 more
exaly   +3 more sources

Multidimensional roles and clinical significance of GATA3 in breast cancer [PDF]

Frontiers in Cell and Developmental Biology
BackgroundGATA-binding protein 3 (GATA3) is a pivotal transcriptional regulator during mammary gland development and serves as a core biomarker in breast cancer. Although traditionally recognized for maintaining luminal differentiation, its high mutation
Junjuan Tan, Weihan Chen, Kaiyan Song, Xiaoqian Zhu, Liwei Hong, Juju Zhou, Kai Chen, Kai Chen, Haitong Lv   +8 more
doaj   +2 more sources

Potential role of significant GATA3 mutation in male breast cancer responding to endocrine therapy: A case report

Indian Journal of Pathology and Microbiology, 2021
A 60-year-old Chinese male with a hard mass, pressure pain, and ulcerous skin under his left axilla was first diagnosed with apocrine carcinoma, most likely metastasis from breast cancer.
Yaoxiong Xia, Xiaoling Liu, Wenhui Li, Yuechun Zhu   +3 more
doaj   +3 more sources

Case Report: Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia Without Febrile Seizures: A Novel Mutation in the GATA3 Gene

Frontiers in Endocrinology
ObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and ...
Yudi Zhang, Yongzhen Li, Haibin Chen
exaly   +3 more sources

GATA3 somatic mutations are associated with clinicopathological features and expression profile in TCGA breast cancer patients

Scientific Reports, 2021
The effect of somatic mutations and the gene expression profiles on the prognosis is well documented in cancer research. This study was conducted to evaluate the association of GATA3 somatic mutations with tumor features, survival, and expression ...
Fahimeh Afzaljavan, Ayeh Sadat Sadr, Sevtap Savas, Alireza Pasdar   +3 more
doaj   +1 more source

Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.

PLoS Genetics, 2021
We sought to understand how perturbation of signaling pathways and their targets generates variable phenotypes. In humans, GATA3 associates with highly variable defects, such as HDR syndrome, microsomia and choanal atresia.
Mary E Swartz, C Ben Lovely, Johann K Eberhart   +2 more
doaj   +1 more source

Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss

罕见病研究, 2022
Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of ...
QU Chunyan, ZHOU Yi, CHEN Min, HAO Jinsheng, NI Xin, LIU Haihong   +5 more
doaj   +1 more source