Results 21 to 30 of about 10,255 (168)

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome [PDF]

Journal of Biological Chemistry, 2004
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1) stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends ...
Nesbit, M A, Bowl, M R, Harding, B, Ali, A, Ayala, A, Crowe, C, Dobbie, A, Hampson, G, Holdaway, I, Levine, M A, McWilliams, R, Rigden, S, Sampson, J, Williams, A J, Thakker, R V   +14 more
openaire   +3 more sources

A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

Indian Journal of Nephrology, 2023
A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone levels and was started on teriparatide injections and
Prabhu, Pooja Prakash, Ballal, Sudarshan, Augustine, Rohan, Shetty, Mitesh   +3 more
openaire   +2 more sources

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast

Communications Biology, 2021
Satoi Nagasawa and Yuta Kuze et al. report a multi-omic analysis of ductal carcinoma in situ (DCIS) of the breast, including whole-exome, single-cell, and spatial transcriptome sequencing.
Satoi Nagasawa, Yuta Kuze, Ichiro Maeda, Yasuyuki Kojima, Ai Motoyoshi, Tatsuya Onishi, Tsuguo Iwatani, Takamichi Yokoe, Junki Koike, Motohiro Chosokabe, Manabu Kubota, Hibiki Seino, Ayako Suzuki, Masahide Seki, Katsuya Tsuchihara, Eisuke Inoue, Koichiro Tsugawa, Tomohiko Ohta, Yutaka Suzuki   +18 more
doaj   +1 more source

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

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   +1 more source

Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome

Scientific Reports, 2021
Transcription factors (TFs) play important roles in many biochemical processes. Many human genetic disorders have been associated with mutations in the genes encoding these transcription factors, and so those mutations became targets for medications and ...
Atlal El-Assaad, Zaher Dawy, Athar Khalil, Georges Nemer   +3 more
doaj   +1 more source

Distinct expression and prognostic values of GATA transcription factor family in human ovarian cancer

Journal of Ovarian Research, 2022
Accumulated studies have provided controversial evidences of expression patterns and prognostic value of the GATA family in human ovarian cancer. In the present study, we accessed the distinct expression and prognostic roles of 7 individual members of ...
Quan Zhou, Huai-jie Yang, Man-zhen Zuo, Ya-ling Tao   +3 more
doaj   +1 more source

Morphology, immunohistochemistry characteristics, and clinical presentation of microcystic urothelial carcinoma: a series of 10 cases

Diagnostic Pathology, 2023
Background Microcystic urothelial carcinoma (MUC) is a rare variant of urothelial carcinoma with histological appearances similar to begin lesions. Thus far, approximately 50 cases have been reported.
Wenjing Su, Wenwen Sui, Xiankui Cheng, Yuanyuan Zong, Yejun Qin, Fengyun Cui   +5 more
doaj   +1 more source

Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation

Endocrine Journal, 2010
We report on a Japanese girl with HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome who developed diabetes mellitus (DM) at three years of age (blood glucose 713 mg/dL, HbA(1c) 8.0%) in the absence of anti-glutamic acid decarboxylase autoantibodies. Mutation analysis revealed a de novo heterozygous two base pair deletion at
MUROYA, Koji, MOCHIZUKI, Takahiro, FUKAMI, Maki, ISO, Manami, FUJITA, Keinosuke, ITAKURA, Mitsuo, OGATA, Tsutomu   +6 more
openaire   +3 more sources

Chemotherapy Modulates Endocrine Therapy-Related Resistance Mutations in Metastatic Breast Cancer

Translational Oncology, 2019
PURPOSE: Accumulation of PIK3CA, ESR1, and GATA3 mutations results in resistance to endocrine therapy in breast cancer patients; however, the response of these genes to chemotherapy is unclear.
Dabo Zhou, Quchang Ouyang, Liping Liu, Jingyu Liu, Yu Tang, Mengjia Xiao, Yikai Wang, Qiongzhi He, Zhe-Yu Hu   +8 more
doaj   +1 more source

Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome [PDF]

Iranian Journal of Neonatology, 2018
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome.
shahin mafinejad, Hadi Khorsand Zak, Ghasem Bayani, Hojatollah Ehteshammanesh, Yasaman Bozorgnia   +4 more
doaj   +1 more source