Results 101 to 110 of about 7,071,839 (288)

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Polygenic risk score increases schizophrenia liability through cognition-relevant pathways [PDF]

, 2019
Cognitive deficit is thought to represent, at least in part, genetic mechanisms of risk for schizophrenia, with recent evidence from statistical modelling of twin data suggesting direct causality from the former to the latter.
Dickinson, D, Toulopoulou, T, Cherny, SS, Dickinson, D., Berman, K. F., Zhang, X., Sham, PC, Zhang, X, Straub, RE, Weinberger, DR, Toulopoulou, Timothea, Sham, P., Cherny, S., Straub, R. E., Weinberger, D. R., Berman, KF   +15 more
core   +1 more source

Etiology‐specific spectrum of epilepsy syndromes (ESSES): Widening the concept of etiology‐specific epilepsies—Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Nicola Specchio   +15 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

“Polygenic risk score” computation for Inflammatory Bowel Disease using an Illumina “custom array” [PDF]

, 2023
openNegli ultimi 15 anni i Genome-Wide Association Studies (GWAS) hanno prodotto un'enorme quantità di dati sui loci genetici associati a tratti quantitativi, tra cui l'intolleranza alimentare e altri disturbi digestivi.
TAMIAZZO, FEDERICO
core  

Genetic and Molecular Basis of Processing Traits and Genetic Improvement Progress in Major Fruit Crops

Future Postharvest and Food, EarlyView.
Processing quality in fruit crops is governed by complex genetic networks controlling texture, sweetness, color, browning, aroma, and nutritional quality. Advances in genomics, genomic selection, and genome editing enable the development of processing‐oriented cultivars with improved industrial performance, reduced postharvest losses, and enhanced ...
M. Ranjani, Kaviya Dharshini U, Shalini Gaur Rudra   +2 more
wiley   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Polygenic Risk Score in Clinical Practice: A Review

Indian Journal of Clinical Cardiology
Cardiovascular diseases continue to be the leading cause of mortality and morbidity in the world. The prevalence has been changing with time in the developing and developed world.
Karthik Tummala
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Association between genetic risk of melatonin secretion and attention deficit hyperactivity disorder

Psychiatry Research Communications
Sleep problems are common in individuals with ADHD; however, the exact underlying mechanism is unknown. I Data from the Lundbeck Foundation Initiative for Integrative Psychiatric Research (N = 27,076), the Taiwan Biobank (N = 2373) and the Hamamatsu ...
Nagahide Takahashi, Tomoko Nishimura, Akemi Okumura, Taeko Harada, Toshiki Iwabuchi, Md Shafiur Rahman, Pi-Hua Liu, Gwo-Tsann Chuang, Yi-Cheng Chang, Yoko Nomura, Kenji J. Tsuchiya   +10 more
doaj   +1 more source