Results 131 to 140 of about 27,823 (222)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Intestinal epithelial SETD2 maintains gut microbial homeostasis to attenuate colitis

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
• SETD2 deficiency in intestinal epithelial cells (IECs) drives REG3 lectins overproduction and triggers profound gut microbiota dysbiosis. • SETD2 deficiency increased chromatin accessibility and induced H3K4me3 enrichment at REG3 genes. • Supplementation with healthy‐like gut microbiota significantly ameliorated the exacerbated colitis induced by ...
Jing Feng, Ziyi Wang, Yue Xu, Jinjin Peng, Che Xu, Qingxin Xie, Yuyi Li, Wangshuang Chen, Jiaqing Chen, Xingyu Wang, Wei‐Qiang Gao, Li Li, Xiangjun Meng   +12 more
wiley   +1 more source

A novel intronic variant ABO*AW allele resulting in weak A expression

Transfusion, EarlyView.
Yujung Jung, Samantha Harris, Shelley Fletcher, Lay See Er, Sunitha Vege, June Fertes, Mohammad Alam, Moritz Stolla, Theresa Nester   +8 more
wiley   +1 more source

Genomic and Morphological Insights Into the Adaptive Evolution of Honeybees in Rocky Desertification Habitats

Ecology and Evolution, Volume 16, Issue 8, August 2026.
Rocky desertification exerts significant selective pressures on honeybee morphology. Honeybees undergo adaptive evolution in 19 genes such as glycogen biosynthesis. Genes like GBE promote organismal survival under desertification. ABSTRACT Unlike traditional desertification, rocky desertification is a distinct form of land degradation characterized by ...
Yinglong Yu, Xiangyou Tang, Daoyin Chen, Ying Li, Dan Yao, Man Liu, Jinshan Xu, Xiaoping Wei   +7 more
wiley   +1 more source

Investigation of PDCD1 Gene Polymorphisms and Haplotypes in COVID‐19 Severity and Outcome in a Brazilian Population

Journal of Medical Virology, Volume 98, Issue 8, August 2026.
ABSTRACT COVID‐19 severity and survival are influenced by the host immune response to SARS‐CoV‐2. Programmed cell death 1 (PD‐1), a key immune checkpoint, regulates T‐cell activation and antiviral immune balance. Since genetic variability can modulate these responses, we investigated whether the PDCD1 polymorphisms rs11568821 C > T, rs2227982 G > A ...
Sarah Lott Moretto, Pedro Luis Candido de Souza Cassela, Guilherme Lerner Trigo, Marcell Alysson Batisti Lozovoy, Zuleica Naomi Tano, Andrea Name Colado Simão, Karen Brajão de Oliveira   +6 more
wiley   +1 more source

Targeted Epstein-Barr virus capture sequencing identifies BBLF4-L322M as an independent prognostic variant in nasopharyngeal carcinoma. [PDF]

Microbiol Spectr
Luo S, Huang Z, Shi N, Chen F, Xiang W, Ren Y, Xia W, Tang A.   +7 more
europepmc   +1 more source

Harnessing Tumor‐Specific Transcript Diversity Uncovers a Shared Neoantigen Reservoir for Pancreatic Ductal Adenocarcinoma

MedComm, Volume 7, Issue 8, August 2026.
This study introduces NeoAPP, a computational tool revealing that transcriptional dysregulation generates a dominant reservoir of neoantigens from tumor‐specific transcripts (TSTs) in pancreatic ductal adenocarcinoma (PDAC), far exceeding those of mutational origin.
Jingjing Zhao, Qiaojuan Li, Peng Lin, Yu Yang, Hongwu Yu, Yifan Wen, Wenqian Yu, Huiyi He, Sichen Tao, Feifei Zhang, Yan Li, Zhixiang Hu, Jing Xie, Zhen Chen, Shenglin Huang   +14 more
wiley   +1 more source

Genetic alterations in poor-quality individually selected sperm highlight candidate biomarkers for male subfertility. [PDF]

Sci Rep
Al Smadi MA, Shah AA, Khan MR, Alshdaifat E, Fischer U, Abdul-Khaliq H, Meese E, Abu-Halima M.   +7 more
europepmc   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
A novel MC4R mutation (c.185A > G) was identified in a 10‐year‐old girl with severe obesity and hyperinsulinemia. Retrospective analysis of 64 pediatric cases revealed that mutation location influences BMI, modulated by underlying disease status, demonstrating that the genotype–phenotype relationship in MC4R‐associated obesity is clinically context ...
Xin Li, Xiaotian Wang, Xin Liu, Shuping Wang, Wentao Yang   +4 more
wiley   +1 more source

Development and validation of a pipeline for the systematic search for new HLA alleles in WGS data. [PDF]

Front Bioinform
Albert E, Deviatkin A, Smirnova D, Woroncow M, Zobkova G, Mityaeva O, Smirnova A, Bogdanov V, Volchkov P.   +8 more
europepmc   +1 more source