Results 151 to 160 of about 130,902 (295)

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Assessing the effect of bovine MSTN variants on pre‐mRNA splicing

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract The myostatin protein is a potent negative regulator of skeletal muscle growth encoded by the MSTN gene. MSTN loss‐of‐function variants lead to a particular cattle phenotype characterized by an increase in skeletal muscle mass, known as “double muscling” or “double muscled”.
Nicolas Gaiani, Dominique Rocha, Arnaud Boulling   +2 more
wiley   +1 more source

Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations. [PDF]

Nat Genet
Tagore S, Tsang S, Tangermann C, Hu LZ, Diederichs S, Mills GB, Califano A.   +6 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

CYP2C19 genotype testing for clopidogrel: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 329-347, February 2026.
Clopidogrel, an antiplatelet agent, is currently licensed in the United Kingdom for the prevention and treatment of atherothrombotic events in cerebrovascular disease, coronary artery disease and peripheral arterial disease. Clopidogrel requires metabolic activation by the cytochrome P450 enzyme CYP2C19 to be effective.
Cinzia Dello Russo, Iain Frater, Rebecca Kuruvilla, Stefanie Lip, Hannah O'Neill, Kerry Burke, Vicky Chaplin, Alexander S. F. Doney, Salim Elyas, Nicholas Greaves, Sophie Harding, David Hargroves, Judith Hayward, Dyfrig A. Hughes, Tom A. T. Hughes, Sree Kondapally, Patrick Mok, Aaron Peace, Imran Rafi, Simon Ray, Vicky Stinton, Luigi Venetucci, Munir Pirmohamed   +22 more
wiley   +1 more source

Loss-of-Function Mutation RyR2-A4860G Confers an Arrhythmia Phenotype in Mice Inconsistent With Calcium Release Deficiency Syndrome. [PDF]

Circ Arrhythm Electrophysiol
Pattridge HK, Ponce-Balbuena D, Ríos Pérez EB, Eckhardt LL, Valdivia HH, Alvarado FJ.   +5 more
europepmc   +1 more source

Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses. Here, we report a case of a 50‐year‐old woman with a clinical diagnosis of ADPKD, hypertension, preserved kidney function ...
Anna Katya Brossart, Kathryn Curry, Sumit Punj, Tarek Darwish, Hossein Tabriziani   +4 more
wiley   +1 more source

Multivariate Optimization of Easily Prepared Indium Substrates for Mild‐Acid Zinc‐Ion Batteries

Chemistry–Methods, Volume 6, Issue 2, February 2026.
Scalable In‐containing substrates (In‐treated), prepared via galvanic displacement from Zn paste electrodes (Zn‐powder), enhance Zn electrodeposition efficiency in Aqueous Rechargeable Zinc‐Ion Batteries (ARZIBs) even at low In content. A multivariate design of experiment (DOE) identifies key factors and synergies controlling Zn deposition.
Lucia Sorrill, Eva‐Maria Meyer, Giorgia Zampardi, Fabio La Mantia   +3 more
wiley   +1 more source

Lof der zelfreflectie

, 2015
Openbare les lectoraat Publieke Zorg en Preventie voor Jeugd. Het lectoraat maakt deel uit van het Kenniscentrum Zorginnovatie van Hogeschool Rotterdam. De missie van het lectoraat is om een bijdrage te leveren aan effectieve preventie van psychosociale problemen van jeugdigen.
openaire  

Numerical Modeling of Aluminium Extrusion [PDF]

, 1998
Huetink, J., Lof, J.
core   +1 more source