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 novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
Huang B et al.
Molecular Genetics and Metabolism Reports, 2024
Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.
Walsh RJ et al.
Frontiers in Oncology, 2024
38812774 (PubMed )
Supplement: DataSheet_2.xlsx › Sheet1
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
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Wang L et al.
Chinese Medical Journal, 2017
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.
Lin YH et al.
Mutation Research, 2015
GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.
Gaynor KU et al.
Hormones & Cancer, 2013
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.
Nakamura A et al.
Endocrine Journal, 2011
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].
Ji YB et al.
Zhonghua Yi Xue Za Zhi, 2009
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Ferraris S et al.
American Journal of Medical Genetics. Part A, 2009
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
Hernández AM et al.
American Journal of Medical Genetics. Part A, 2007
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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