Results 31 to 40 of about 10,255 (168)

Circulating tumor DNA profile and its clinical significance in patients with hormone receptor-positive and HER2-negative mBC

Frontiers in Endocrinology, 2022
BackgroundAfter early-line (first- and second-line) endocrine therapy, hormone-receptor (HR)-positive and human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancers (mBCs) become resistant to endocrine therapy. Genetic alterations
Yu Tang, Yu Tang, Jing Li, Jing Li, Binliang Liu, Binliang Liu, Jialu Ran, Zhe-Yu Hu, Zhe-Yu Hu, Quchang Ouyang, Quchang Ouyang   +10 more
doaj   +1 more source

Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR)

Disease Models & Mechanisms, 2013
SUMMARY The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability.
Kelly Sheehan-Rooney, Mary E. Swartz, Feng Zhao, Dong Liu, Johann K. Eberhart   +4 more
doaj   +1 more source

A preclinical model of peripheral T‐cell lymphoma GATA3 reveals DNA damage response pathway vulnerability

EMBO Molecular Medicine, 2022
Peripheral T‐cell lymphoma (PTCL) represents a rare group of heterogeneous diseases in urgent need of effective treatments. A scarcity of disease‐relevant preclinical models hinders research advances.
Elizabeth A Kuczynski, Giulia Morlino, Alison Peter, Anna M L Coenen‐Stass, Jennifer I Moss, Neha Wali, Oona Delpuech, Avinash Reddy, Anisha Solanki, Charles Sinclair, Dinis P Calado, Larissa S Carnevalli   +11 more
doaj   +1 more source

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Chinese Medical Journal, 2017
Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature ...
Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang   +15 more
doaj   +1 more source

Spontaneous Differentiation of T Follicular Helper Cells in LATY136F Mutant Mice

Frontiers in Immunology, 2021
Mice with a mutation at the LAT-PLCγ1 binding site (Y136) have a defect in thymocyte development due to dampened TCR signaling. CD4+ T cells that do reach the periphery are hyper-activated and skewed to Th2.
Sarah A. O’Brien, Minghua Zhu, Weiguo Zhang, Weiguo Zhang   +3 more
doaj   +1 more source

Hypoparathyroidism, deafness and renal dysplasia syndrome with bilateral cataract and bicornuate uterus caused by a de novo GATA3 mutation [PDF]

Exploration of Endocrine and Metabolic Diseases
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare genetic disorder caused by haploinsufficiency of the GATA3 gene. A very limited number of cases have been reported in the literature to date.
Rajesh Chetiwal, Amit Kumar, Shweta Tanwar, Priyank Rastogi   +3 more
doaj   +1 more source

Analysis of the correlation between key gene mutations and breast cancer

Journal of Algorithms & Computational Technology, 2021
The purpose of this study is to investigate whether mutations in key genes affect the prognosis of breast cancer patients, and base mutations is discussed by combining the physical properties of the electron–ion interaction pseudopotential.
Ziyuan Shen, Dongyue Zhu, Yunjing Gu, Ping Zhu   +3 more
doaj   +1 more source

Case report: Chronic lymphocytic leukemia/small lymphocytic lymphoma and monomorphic epitheliotropic intestinal T-cell lymphoma: A composite lymphoma

Pathology and Oncology Research, 2022
Background: Composite lymphomas involving B-cell and T-cell lymphomas is very rare.Case presentation: We reported a 63-year-old gentleman with composite chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and monomorphic epitheliotropic ...
Bing Zhang, Yangyang Zhang, Quan Li, Qingjun Jiang, Wei Chu, Wei Chu, Haifeng Gong, Haifeng Gong, Ruyuan Li, Hong Ji   +9 more
doaj   +1 more source

Multifocal lymphadenopathies with polyclonal reactions primed after EBV infection in a mRNA-1273 vaccine recipient

Swiss Medical Weekly, 2022
We report a case of recurrent tender, multifocal lymphadenopathies associated with B-symptoms, clinically mimicking lymphoma in a mRNA-1273 vaccine recipient after a recent Epstein-Barr virus (EBV) infection.
François R. Girardin, Alexandar Tzankov, Giuseppe Pantaleo, Françoise Livio, Gilbert Greub   +4 more
doaj   +1 more source

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor [PDF]

Human Molecular Genetics, 2006
The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heterozygous germline mutations were identified in patients
Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, Bitner-Glindzicz, Maria, Blind, Eberhard, Bloch, Catherine, Christin, Patricia, Clayton, Peter; id_orcid 0000-0003-1225-4537, Gecz, Jozef, Gilbert-Dussardier, Brigitte, Guillen-Navarro, Encarna, Hackett, Anna, Halac, Isil, Hendy, Geoffrey N., Lalloo, Fiona, Mache, Christoph J., Mughal, Zulf, Ong, Albert C M, Rinat, Choni, Shaw, Nicholas, Smithson, Sarah F., Tolmie, John, Weill, Jacques, Nesbit, M. Andrew, Thakker, Rajesh V.   +27 more
openaire   +5 more sources