Results 81 to 90 of about 10,255 (168)

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

BMC Medical Genetics, 2017
Background Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14 ...
Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin   +5 more
doaj   +1 more source

Genetic Alterations in Chromatin Regulatory Genes in Upper Tract Urothelial Carcinoma and Urothelial Bladder Cancer

Cancer Medicine
Purpose Upper tract urothelial carcinoma (UTUC) and urothelial carcinoma of the bladder (UCB) share histomorphological and therapeutic features but distinct epidemiologic and clinicopathologic characteristics.
Shuo Wang, Xuzhi Yan, Weihua Lan, Yapeng Wang, Ze Wang, Dali Tong, Yao Zhang, Qiang Ran, Haoyang Li, Junhao Jin, Haiyang Xiao, Jing Xu, Qian Yan, Dianzheng Zhang, Qiang Ma, Hualiang Xiao, Jun Qin, Luofu Wang, Jun Jiang, Qiuli Liu   +19 more
doaj   +1 more source

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing

Scientific Reports
Breast cancer genomic landscapes differ across ethnic groups, yet the somatic profile of Thai breast tumours has remained uncharacterised. This study analysed 1676 high-hereditary-risk Thai breast cancer patients, identified according to National ...
Kornyok Kamdee, Ekkapong Roothumnong, Wanna Thongnoppakhun, Krittiya Korphaisarn, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Supakit Wiboontanasarn, Warisara Tansa-nga, Kittiporn Punuch, Khontawan Pongsuktavorn, Warunya Tititumjariya, Chittapat Lertbussarakam, Jantanee Wattanarangsan, Jiraporn Sritun, Numpueng Ridchuayrod, Manop Pithukpakorn, Bhoom Suktitipat   +17 more
doaj   +1 more source

Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells

iScience
Summary: Human physiology is highly susceptible to frameshift mutations within coding regions, and many hereditary diseases and cancers are caused by such indels.
Bozhidar-Adrian Stefanov, Elvis Ajuh, Sarah Allen, Mariusz Nowacki   +3 more
doaj   +1 more source

Distinctive genomic features of human T-lymphotropic virus type 1-related adult T-cell leukemia-lymphoma in Western populations

Haematologica
Adult T-cell leukemia-lymphoma (ATLL) is an aggressive Human T-cell Leukemia Virus Type 1 (HTLV-1)-driven malignancy. Although Western hemisphere (Afro-Caribbean and South American) patients face worse prognoses, our understanding of ATLL molecular ...
Caroline S. Myers, Eli Williams, Carlos Barrionuevo Cornejo, Georgios Pongas, Ngoc L. Toomey, Jose A. Sanches, Maxime Battistella, Samuel Mo, Melissa Pulitzer, Cristopher A. Moskaluk, Govind Bhagat, Kenneth Ofori, Jonathan J. Davick, Octavio Servitje, Denis Miyashiro, Fina Climent, Kimberley Ringbloom, Daniela Duenas, Calvin Law, Sandro Casavilca Zambrano, Luis Malpica, Brady E. Beltran, Denisse Castro, Luciana Barreto, Carlos Brites, Jennifer R. Chapman, Jaehyuk Choi, Alejandro A. Gru, Juan C. Ramos   +28 more
doaj   +1 more source

GATA3 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Molecular and immune characteristics of neuroendocrine bladder carcinoma — Implications for diagnosis, prognosis, and therapy: A review

Biomolecules & Biomedicine
Neuroendocrine bladder carcinoma (NEBC) is a rare but highly aggressive histologic subtype of bladder cancer with poor prognosis, often driven by delayed diagnosis and limited therapeutic options; despite widespread use of next-generation sequencing ...
Tianxiang Zhang, Xi Zhang, Lei Qian, Chunjiang Hu, Jianxing Li   +4 more
doaj   +1 more source

Establishment of the endocrine variant extractor and its clinical application in identifying a novel <i>GATA3</i> mutation in HDR syndrome. [PDF]

Front Endocrinol (Lausanne)
Han Y, Song D, Noh M, Kang M, Eom YS, Lee H, Lee S.   +6 more
europepmc   +1 more source

Intracranial calcification in a patient with HDR syndrome and a GATA3 mutation.

Internal medicine (Tokyo, Japan), 2013
Hayashi, Yuichi, Suwa, Tetsuya, Inuzuka, Takashi   +2 more
openaire   +2 more sources

Novel splice site mutation in GATA3 in a patient with HDR syndrome

Novel splice site mutation in GATA3 in a patient with HDR syndrome
PMID：29026277 This is an open access article under the CC BY-NC-ND license.
openaire   +1 more source