Results 181 to 190 of about 1,650,847 (244)

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Multiple polygenic score approach in colorectal cancer risk prediction. [PDF]

Sci Rep
Jiang SJ, Thomas M, Rosenthal EA, Phipps AI, Sakoda LC, van Duijnhoven FJB, Pellatt AJ, Avery CL, Berndt SI, Bishop DT, Castellví-Bel S, Chan AT, Grant RC, Gignoux C, Gsur A, Gunter MJ, Haiman CA, Hoffmeister M, Jarvik GP, Jenkins MA, Keku TO, Küry S, Lee JK, Marchand LL, Moreno V, Newcomb PA, Newton CC, Ogino S, Palmer JR, Pearlman R, Qu C, Schoen RE, Um CY, Van Guelpen B, Visvanathan K, Vymetalkova V, White E, Woods MO, Platz EA, Brenner H, Corley DA, Vogelaar IL, Hsu L, Peters U.   +43 more
europepmc   +1 more source

Macular telangiectasia type 2 genetic risk variants associated with clinical characteristics in the Slovenian cohort

Acta Ophthalmologica, EarlyView.
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič, Nataša Debeljak, Petra Hudler, Janez Smerkolj, Mojca Urbančič   +4 more
wiley   +1 more source

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians. [PDF]

Front Genet
Menon R, Khan N, Charugulla S, Bassi A, Dangare P, Dedaniya A, Pant A, Anjanappa R, Samson PL, Satagopan U, Murugan S, Naikawadi A, Ramprasad VL, Gupta R.   +13 more
europepmc   +1 more source

Early Life Neurodevelopmental Indicators of Attention‐Deficit/Hyperactivity Disorder at Age 10: A Prospective Cohort Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim Attention‐deficit/hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder associated with long‐term adverse outcomes, yet diagnosis often occurs years after symptoms first emerge. Because ADHD involves impairments across multiple developmental domains, early deviations in language, cognition, motor development and ...
Camilla Grube, María Hernández‐Lorca, Julie Rosenberg, Kristina Aagaard, Michael Widdowson, Tingting Wang, Nilo Vahman, Hanne Lunn Nissen, Jens Richardt Møllegaard Jepsen, Klaus Bønnelykke, Bjørn H. Ebdrup, Bo Chawes, Rebecca K. Vinding   +12 more
wiley   +1 more source

Review Article: Fibrosis‐4 Index in Steatotic Liver Disease—Past, Present and Future

Alimentary Pharmacology &Therapeutics, EarlyView.
FIB‐4 remains an inexpensive, scalable first‐line triage tool for excluding advanced fibrosis and identifying patients who need second‐line assessment, but it should not be used as a stand‐alone diagnostic or treatment‐selection test. Sequential testing and longitudinal FIB‐4 trajectories may improve risk stratification and prognosis.
Kriti Soni, Vinay Jahagirdar, Omar Albhaisi, Richard K. Sterling, Juan Pablo Arab, Hanna Blaney, Luis Antonio Díaz   +6 more
wiley   +1 more source

Evaluating a Genome-Wide Polygenic Score for Handgrip Strength and Its Interplay with Leisure-Time Physical Activity Across the IGEMS Twin Cohorts. [PDF]

Med Sci Sports Exerc
Herranen P, Palviainen T, Nygaard M, Karlsson IK, Thalamuthu A, Mather KA, Reynolds CA, Panizzon MS, Rantanen T, Finkel D, Gatz M, Pedersen NL, Kaprio J, Sillanpää E.   +13 more
europepmc   +1 more source

The PSA test for prostate cancer screening: an abridged Cochrane review

BJU International, EarlyView.
Objectives To assess the effects of prostate cancer screening compared to no screening in men with no prior diagnosis of prostate cancer. Methods This systematic review represents an update of a prior Cochrane review from 2013, searching multiple databases up to November 2025. We included randomised controlled trials (RCTs) of prostate cancer screening
Juan V. A. Franco, Eu Chang Hwang, Jae Hung Jung, Octavio Vaimberg, Dragan Ilic, Anne Cleves, Philipp Dahm   +6 more
wiley   +1 more source

Effects of lifelong sulforaphane intake on behavioural, neurochemical and biomolecular dysfunctions in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders

British Journal of Pharmacology, EarlyView.
Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora, Maria Bove, Lisa Pia Agosti, Rossella Pia Palmieri, Mohsin Zafar, Paolo Tucci, Maria Grazia Morgese, Stefania Schiavone, Luigia Trabace   +8 more
wiley   +1 more source

Body mass index threshold for obesity should be personalized based on polygenic score: Analysis of european and east asian biobanks. [PDF]

Am J Prev Cardiol
Kim MS, Shim I, Kim B, Do R, Park WY, Khera AV, Natarajan P, Ellinor PT, Fahed AC, Won HH.   +9 more
europepmc   +1 more source