Results 111 to 120 of about 103,612 (258)

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Acetylation of Rec8 cohesin complexes regulates reductional chromosome segregation in meiosis

Life Science Alliance
Meikin-dependent acetylation of Rec8 cohesin complexes at centromeres cooperates with the canonical cohesin acetylation to establish reductional chromosome segregation in meiosis in fission yeast.
Ziqiang Li, Yu Liu, Andrew W Jones, Yoshinori Watanabe   +3 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Impact of donor mare and stallion identity on the likelihood of pregnancy after transfer of in vitro produced embryos

Equine Veterinary Journal, EarlyView.
Abstract Background The success of in vitro embryo production (IVEP) is influenced by donor mare and stallion. Objectives To determine whether donor mare and stallion influence the pregnancy rate after transfer of in vitro produced (IVP) blastocysts and to identify factors influencing the likelihood of obtaining one or more pregnancies from a single ...
M. Papas, T. A. E. Stout, J. C. M. Vernooij, B. Leemans, L. Arnold, M. M. Beitsma, L. I. Wijnands, M. de Ruijter‐Villani, S. Colleoni, G. Lazzari, C. Galli, A. Claes   +11 more
wiley   +1 more source

RETRACTED: Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +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

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Lymphocyte Micronucleus Formation Is Driven by Inflammation‐Induced Oxidative DNA Damage in Oesophageal Cancer Development

International Journal of Cancer, EarlyView.
Chromosomal instability is a hallmark of cancer, but minimally invasive ways to detect systemic DNA damage and cancer risk remain limited. Here, using patient blood samples, the authors investigated lymphocyte micronuclei (MN) frequency as a potential marker of DNA damage across the progression from gastroesophageal reflux disease to Barrett's ...
Kathryn Munn, Rachel Lawrence, Hasan Haboubi, Hamsa Naser, Kate Hurlow, Ume‐Kulsoom Shah, Lisa Williams, Sarah Gwynne, Owen Bodger, Jiri Zavadil, Francois Virard, Shareen Doak, Laura E. Thomas, Gareth Jenkins   +13 more
wiley   +1 more source

Beyond Tradition: An Integrated Toxicological, Ecological, and Public Health Perspective on Aristolochic Acids

Journal of Applied Toxicology, EarlyView.
ABSTRACT Aristolochia species have long been used in traditional medicine for their presumed anti‐inflammatory, analgesic and antimicrobial properties. However, extensive toxicological and epidemiological evidence now demonstrates that these plants contain aristolochic acids (AAs) I and II, highly potent nephrotoxic, genotoxic, and carcinogenic ...
Victor Ventura de Souza, Lara Rodrigues De Andrade, Tatiana da Silva Souza   +2 more
wiley   +1 more source