Results 141 to 150 of about 10,255 (168)

GATA3 Mutation in a Family With Hypoparathyroidism, Deafness and Renal Dysplasia Syndrome

World Journal of Pediatrics, 2014
The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3.Polymerase chain reaction and DNA sequencing was performed to detect the exons of the ...
Zi-Yang Zhu
exaly   +3 more sources

Identification of a novel insertion mutation in GATA3 with HDR syndrome

Clinical and Experimental Nephrology, 2005
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome.
Yukari, Mino, Takashi, Kuwahara, Toshifumi, Mannami, Keisuke, Shioji, Koh, Ono, Naoharu, Iwai   +5 more
openaire   +2 more sources

GATA3 Truncating Mutations Promote Cistromic Re-Programming in Vitro, but Not Mammary Tumor Formation in Mice

Journal of Mammary Gland Biology and Neoplasia, 2019
Heterozygous mutations in the transcription factor GATA3 are identified in 10-15% of all breast cancer cases. Most of these are protein-truncating mutations, concentrated within or downstream of the second GATA-type zinc-finger domain. Here, we investigated the functional consequences of expression of two truncated GATA3 mutants, in vitro in breast ...
Yongsoo Kim, Jos Jonkers, Wilbert Zwart
exaly   +3 more sources

HDR syndrome: A novel “de novo” mutation in GATA3 gene

American Journal of Medical Genetics Part A, 2009
Abstract Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in which this transcription factor is expressed appears exquisitely sensitive to gene dosage.
Ferraris S, Del Monaco AG, GARELLI, Emanuela, CARANDO, Adriana, De Vito B, Pappi P, Lala R, Ponzone A.   +7 more
openaire   +3 more sources

A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism

Journal of Bone and Mineral Metabolism, 2008
Hypoparathyroidism is a disease characterized by hypocalcemia and hyperphosphatemia derived from deficient actions of parathyroid hormone (PTH). We report the case of 43-year-old Japanese man with PTH-deficient hypoparathyroidism introduced to an endocrinologist in our hospital.
Tasuku, Saito, Seiji, Fukumoto, Nobuaki, Ito, Hisanori, Suzuki, Takashi, Igarashi, Toshiro, Fujita   +5 more
openaire   +2 more sources

Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia

Pediatric Nephrology, 2011
We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium ...
Amar, Al-Shibli, Ibrahim, Al Attrach, Patrick J, Willems   +2 more
openaire   +2 more sources

Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.

Audiology & neuro-otology, 2014
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Beelen, E. van, Leijendeckers, J.M., Admiraal, R.J.C., Huygen, P.L.M., Hoefsloot, L.H., Pennings, R.J.E., Snik, A.F.M., Kunst, H.P.M.   +7 more
openaire   +4 more sources

Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2015
Recent studies have confirmed the utility of massively parallel sequencing (MPS) in addressing genetically heterogeneous hereditary hearing impairment. By applying a MPS diagnostic panel targeting 129 known deafness genes, we identified a novel frameshift GATA3 mutation, c.149delT (p.Phe51LeufsX144), in a hearing-impaired family compatible with ...
Yin-Hung, Lin, Chen-Chi, Wu, Tun-Yen, Hsu, Wei-Yih, Chiu, Chuan-Jen, Hsu, Pei-Lung, Chen   +5 more
openaire   +2 more sources

[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].

Zhonghua nei ke za zhi, 2022
Objective: To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation. Methods: A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital ...
J, Yang, Y B, Wang, M, Nie, Y, Jiang, M, Li, W B, Xia, X P, Xing, O, Wang   +7 more
openaire   +1 more source

Expression and mutational analysis of GATA3 in Malaysian breast carcinomas.

The Malaysian journal of pathology, 2011
The GATA3 gene is a potential tumour marker and putative tumour suppressor gene in breast cancer. Its expression is associated with better prognosis and disease free survival in breast cancer patients. We aimed to evaluate GATA3 transcriptome expression and mutation in breast carcinomas and correlate its expression with oestrogen receptor (ER ...
Pau Ni Ivyna, Bong, Zubaidah, Zakaria, Rohaizak, Muhammad, Norlia, Abdullah, Naqiyah, Ibrahim, Nor Aina, Emran, Sharifah Noor Akmal, Syed Hussain   +6 more
openaire   +1 more source