Results 41 to 50 of about 4,885,439 (330)

Germline polymorphisms and alternative splicing of human immunoglobulin light chain genes

iScience, 2021
Summary: Inference of germline polymorphisms in immunoglobulin genes from B cell receptor repertoires is complicated by somatic hypermutations, sequencing/PCR errors, and by varying length of reference alleles.
Ivana Mikocziova, Ayelet Peres, Moriah Gidoni, Victor Greiff, Gur Yaari, Ludvig M. Sollid   +5 more
doaj   +1 more source

Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update

World Journal of Gastroenterology, 2017
Gallbladder cancer is a malignancy of biliary tract which is infrequent in developed countries but common in some specific geographical regions of developing countries. Late diagnosis and deprived prognosis are major problems for treatment of gallbladder
Aarti Sharma, K. L. Sharma, Annapurna Gupta, Alka Yadav, Ashok Kumar   +4 more
semanticscholar   +1 more source

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan, Damien Faury, Alexander G. Weil, Harrison J. Westwick, Nada Jabado, Sébastien Perreault   +5 more
wiley   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

The Molecular Genetics of Gordon Syndrome

Genes, 2019
Gordon syndrome is a rare inherited monogenic form of hypertension, which is associated with hyperkalaemia and metabolic acidosis. Since the recognition of this predominantly autosomal dominant condition in the 1960s, the study of families with Gordon ...
H. Mabillard, J. Sayer
semanticscholar   +1 more source

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

ILF3 prion-like domain regulates gene expression and fear memory under chronic stress

iScience, 2023
Summary: The prion-like domain (PrLD) is a class of intrinsically disordered regions. Although its propensity to form condensates has been studied in the context of neurodegenerative diseases, the physiological role of PrLD remains unclear.
Akira Yamashita, Yuichi Shichino, Kazuki Fujii, Yumie Koshidaka, Mayumi Adachi, Eri Sasagawa, Mari Mito, Shinichi Nakagawa, Shintaro Iwasaki, Keizo Takao, Nobuyuki Shiina   +10 more
doaj   +1 more source

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

Population structure and genetic diversity of Nile tilapia (Oreochromis niloticus) using microsatellite markers from selected water bodies in southwest Ethiopia

Veterinary Medicine and Science, 2023
Background The Ethiopian southwest drainage has been designated a huge potential for fishery and aquaculture development. However, the genetic diversity of Nile tilapia along the main water bodies has yet to be uncovered.
Seid Mohammed Ahmed, Bikila Hordofa, Beira Hailu Meressa, Metekia Tamiru   +3 more
doaj   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj   +1 more source