Results 1 to 10 of about 2,723,058 (227)

Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene [PDF]

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 ...
Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li   +5 more
doaj   +4 more sources

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review [PDF]

Frontiers in Genetics, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao, Lin Yang, Dong Han, Chen Zhao, Wenxia Song, Haiwei Wang, Xiaoze Li, Lihong Wang   +7 more
doaj   +2 more sources

Genome-Wide Gene Expression Profiling Revealed a Critical Role for GATA3 in the Maintenance of the Th2 Cell Identity. [PDF]

PLoS ONE, 2013
Functionally polarized CD4+ T helper (Th) cells such as Th1, Th2 and Th17 cells are central to the regulation of acquired immunity. However, the molecular mechanisms governing the maintenance of the polarized functions of Th cells remain unclear.
Tetsuya Sasaki, Atsushi Onodera, Hiroyuki Hosokawa, Yukiko Watanabe, Shu Horiuchi, Junji Yamashita, Hitoshi Tanaka, Yasumasa Ogawa, Yutaka Suzuki, Toshinori Nakayama   +9 more
doaj   +2 more sources

Divergent lncRNA GATA3-AS1 Regulates GATA3 Transcription in T-Helper 2 Cells

Frontiers in Immunology, 2018
Long non-coding RNAs (lncRNAs) possess a diverse array of regulatory functions including activation and silencing of gene transcription, regulation of splicing, and coordinating epigenetic modifications.
Hunter R. Gibbons, Guzel Shaginurova, Laura C. Kim, Nathaniel Chapman, Charles F. Spurlock, Thomas M. Aune, Thomas M. Aune   +6 more
doaj   +3 more sources

GATA3 Truncation Mutants Alter EMT Related Gene Expression via Partial Motif Recognition in Luminal Breast Cancer Cells

Frontiers in Genetics, 2022
GATA3 is known to be one of the most frequently mutated genes in breast cancer. More than 10% of breast tumors carry mutations in this gene. However, the functional consequence of GATA3 mutations is still largely unknown.
Mika Saotome, Deepak Balakrishnan Poduval, Renju Nair, Mikhala Cooper, Motoki Takaku   +4 more
doaj   +3 more sources

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene [PDF]

Genetics and Molecular Biology, 2018
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities.
Fábio Tadeu Arrojo Martins, Berenice Dias Ramos, Edi Lúcia Sartorato   +2 more
doaj   +2 more sources

LncRNA GATA3-AS1 promotes the proliferation and migration of breast cancer cells and the mechanisms underlying its action [PDF]

Yixue xinzhi zazhi, 2022
Objective Long non-coding RNA (LncRNA) is closely related to the occurrence and development of various tumors. This study aimed to investigate the biological role and mechanism of LncRNA GATA3-AS1 in breast cancer progression.Methods The expression level
Qi JIANG, Yi-Qing XI, Lei WEI
doaj   +1 more source

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

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, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos   +4 more
doaj   +1 more source

GATA Binding Protein 3 Is a Direct Target of Kruppel-Like Transcription Factor 7 and Inhibits Chicken Adipogenesis

Frontiers in Physiology, 2020
Kruppel-like transcription factor 7 (KLF7) is a negative regulator of adipogenesis, however, its precise mechanism is poorly understood. Our previous KLF7 ChIP-seq analysis showed that one of the KLF7 binding peaks was present upstream of GATA binding ...
Yingning Sun, Yingning Sun, Yingning Sun, Yingning Sun, Zhao Jin, Xinyang Zhang, Xinyang Zhang, Xinyang Zhang, Tingting Cui, Tingting Cui, Tingting Cui, Tingting Cui, Wenjian Zhang, Wenjian Zhang, Wenjian Zhang, Shuli Shao, Hui Li, Hui Li, Hui Li, Ning Wang, Ning Wang, Ning Wang   +21 more
doaj   +1 more source