Results 11 to 20 of about 10,255 (168)

Juvenile idiopathic arthritis associated with a mutation in GATA3 [PDF]

Arthritis Research & Therapy, 2019
Background GATA3 is a transcription factor that is important during development and plays a role in differentiation and activity of immune cells, particularly T cells. Abnormal T cell function is found in autoimmune arthritis.
Anna E. Patrick, Wei Wang, Elly Brokamp, Thomas Brent Graham, Thomas M. Aune, Jessica B. Duis   +5 more
doaj   +4 more sources

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Molecular Genetics and Metabolism Reports
Background: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3 on chromosome 10p14.
Bo Huang, Shiwei Li, Yun Chai, Yu Fan, Xin Li, Yue Liu, Yunhong Fu, Xixi Song, Jingqiu Cui   +8 more
doaj   +3 more sources

Auditory and vestibular phenotypes associated with GATA3 mutation. [PDF]

Otol Neurotol, 2014
To report the auditory and vestibular phenotypes of patients with GATA3 mutation.Case series of 6 patients.Tertiary referral center.All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia. Patients (29-60 yr old; mean age, 42.5 yr; 3 male and 3 female subjects) were confirmed to have heterozygous ...
Chien WW, Leiding JW, Hsu AP, Zalewski C, King K, Holland SM, Brewer C.   +6 more
europepmc   +4 more sources

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. [PDF]

Hum Genome Var, 2019
AbstractHDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.
Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, Yamashita Y, Ishihara J, Inagaki Y, Uchida N, Ishii T, Hasegawa T.   +10 more
europepmc   +4 more sources

GATA3 mutation disrupts a functional network governed by estrogen receptor, FOXA1 and GATA3 [PDF]

Cancer Research, 2019
Abstract Estrogen receptors (ER) are part of the nuclear receptor superfamily of transcription factors and are activated by the steroid hormone 17β-estradiol. ER forms a regulatory network in conjunction with other transcription factors, such as FOXA1 and GATA3.
Takaku, Motoki, Grimm, Sara A., Kumar, Bony De, Bennett, Brian D., Wade, Paul A.   +4 more
openaire   +2 more sources

Shift in GATA3 functions, and GATA3 mutations, control progression and clinical presentation in breast cancer [PDF]

Breast Cancer Research, 2014
Abstract Introduction GATA binding protein 3 (GATA3) is a regulator of mammary luminal cell differentiation, and an estrogen receptor (ER) associated marker in breast cancer. Tumor suppressor functions of GATA3 have been demonstrated primarily in basal-like breast cancers. Here, we focused on its function
Cohen, Helit, Ben-Hamo, Rotem, Gidoni, Moriah, Yitzhaki, Ilana, Kozol, Renana, Zilberberg, Alona, Efroni, Sol   +6 more
openaire   +2 more sources

The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver [PDF]

Oncogene, 2020
Abstract As the catalog of oncogenic driver mutations is expanding, it becomes clear that alterations in a given gene might have different functions and should not be lumped into one class. The transcription factor GATA3 is a paradigm of this.
Hruschka, Natascha, Kalisz, Mark, Subijana, Maria, Graña-Castro, Osvaldo, Del Cano-Ochoa, Francisco, Brunet, Laia Paré, Chernukhin, Igor, Sagrera, Ana, De Reynies, Aurelien, Kloesch, Bernhard, Chin, Suet-Feung, Burgués, Octavio, Andreu, David, Bermejo, Begoña, Cejalvo, Juan Miguel, Sutton, Joe, Caldas, Carlos, Ramón-Maiques, Santiago, Carroll, Jason S, Prat, Aleix, Real, Francisco X, Martinelli, Paola   +21 more
openaire   +10 more sources

Histologic and genomic characterization of a primary mucinous carcinoma of the skin

EJC Skin Cancer, 2023
Aims: Primary skin mucinous carcinoma is a rare sweat gland neoplasm with a high local recurrence rate after conventional excision but a low distant-metastasis rate. The genetic underpinning of skin mucinous carcinoma is presently unknown.
Anastasios D. Papanastasiou, Maria R. De Filippo, Chaido Sirinian, Pier Selenica, Maria Repanti, Jorge S. Reis-Filho, Britta Weigelt   +6 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

Serous Carcinoma of the Endometrium with Mesonephric-Like Differentiation Initially Misdiagnosed as Uterine Mesonephric-Like Adenocarcinoma: A Case Report with Emphasis on the Immunostaining and the Identification of Splice Site TP53 Mutation

Diagnostics, 2021
We present herein a rare case of uterine serous carcinoma with mesonephric-like differentiation (SC-MLD) initially misdiagnosed as mesonephric-like adenocarcinoma (MLA). A 51-year-old woman underwent total hysterectomy for a uterine tumor. Histologically,
Sangjoon Choi, Yoon Yang Jung, Hyun-Soo Kim   +2 more
doaj   +1 more source