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
FUS-ERG induces late-onset azacitidine resistance in acute myeloid leukaemia cells.
Asai-Nishishita A et al.
Scientific Reports, 2023
37660196 (PubMed )
Supplement: 41598_2023_41230_MOESM1_ESM.docx
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
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
Zhang J et al.
Nature, 2012
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
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
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A et al.
Human Molecular Genetics, 2007
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
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