Associated Papers
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y et al.
Endocrine Journal, 2024
A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
Tao Y et al.
Frontiers in Genetics, 2023
37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1
Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome.
El-Assaad A et al.
Scientific Reports, 2021
Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.
Swartz ME et al.
Plos Genetics, 2021
Structural and conformational changes induced by missense variants in the zinc finger domains of GATA3 involved in breast cancer.
Kumar R et al.
Rsc Advances, 2020
Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report.
Kojima M et al.
Oncotargets and Therapy, 2018
DNA Sequence Constraints Define Functionally Active Steroid Nuclear Receptor Binding Sites in Chromatin.
Coons LA et al.
Endocrinology, 2017
Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.
Han SI et al.
Molecular and Cellular Endocrinology, 2015
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).
Sheehan-Rooney K et al.
Disease Models & Mechanisms, 2013
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.
Nakamura A et al.
Endocrine Journal, 2011
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Gaynor KU et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Ferraris S et al.
American Journal of Medical Genetics. Part A, 2009
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Zahirieh A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
Nesbit MA et al.
The Journal of Biological Chemistry, 2004
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