Results 131 to 140 of about 94,426 (241)

Current stewardship practices in invasion biology limit the value and secondary use of genomic data

Molecular Ecology Resources, EarlyView., 2023
Abstract Invasive species threaten native biota, putting fragile ecosystems at risk and having a large‐scale impact on primary industries. Growing trade networks and the popularity of personal travel make incursions a more frequent risk, one only compounded by global climate change.
Amy L. Vaughan, Elahe Parvizi, Paige Matheson, Angela McGaughran, Manpreet K. Dhami   +4 more
wiley   +1 more source

The X‐Linked Intellectual Disability Gene, ZDHHC9, Is Important for Oligodendrocyte Subtype Determination and Myelination

Glia, EarlyView.
Zdhhc9 ablation grossly changes gene expression and myelin protein levels in CNS WM. Zdhhc9 is important for the establishment of mature oligodendrocyte subtypes. Zdhhc9 is important for axon myelination and the maintenance of myelin integrity. ABSTRACT Two percent of patients with X‐linked intellectual disability (XLID) exhibit loss‐of‐function ...
Rocio B. White, Angela R. Wild, Timothy P. O'Leary, Andrew J. Thompson, Stephane Flibotte, Angie Peng, Jason C. Rogalski, Mila Mair, Neeki Derhami, Shernaz X. Bamji   +9 more
wiley   +1 more source

Editorial: Chromosome segregation and aneuploidy in cancer. [PDF]

Front Cell Dev Biol, 2023
Molina O, Camps J.
europepmc   +1 more source

Deregulated enhancer‐promoter communication in cancer through altered nuclear architecture

International Journal of Cancer, EarlyView.
Abstract Enhancers are critical regulators of gene expression. Structural variations in cancer genomes can lead to enhancer hijacking, where oncogenes are activated by mistargeted enhancer activity. Novel enhancer‐promoter interactions may also arise through chromosomal rearrangements that create extrachromosomal DNA elements.
Isabelle Seufert, Claire Vargas, Sina Jasmin Wille, Karsten Rippe   +3 more
wiley   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness

Animal Genetics, Volume 54, Issue 1, Page 73-77, February 2023., 2023
Abstract Congenital coat‐colour‐related deafness is common among certain canine breeds especially those exhibiting extreme white spotting or merle patterning. We identified a non‐syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour. Pedigree analysis suggested an autosomal recessive
Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb   +6 more
wiley   +1 more source

Singular effect of linkage on long term genetic gain in the infinitesimal model [PDF]

arXiv
During the founding of the field of quantitative genetics, Fisher formulated in 1918 his ``infinitesimal model'' that provided a novel mathematical framework to describe the Mendelian transmission of quantitative traits. If the infinitely many genes in that model are assumed to segregate independently during reproduction, corresponding to having no ...
arxiv  

Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia

Movement Disorders, EarlyView.
Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth, Kishore R. Kumar, Michael Zech   +2 more
wiley   +1 more source

Understanding the genetic basis of variation in meiotic recombination: past, present, and future [PDF]

arXiv
Meiotic recombination is a fundamental feature of sexually reproducing species. It is often required for proper chromosome segregation and plays important role in adaptation and the maintenance of genetic diversity. The molecular mechanisms of recombination are remarkably conserved across eukaryotes, yet meiotic genes and proteins show substantial ...
arxiv  

Fiber Type‐Specific Proteomic Alterations in R349P Desminopathy Mice

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Desminopathies are a group of rare human myopathies and cardiomyopathies caused by pathogenic variants of the desmin gene. Here, we analyzed the effects of the R349P mutant desmin on the proteomic profiles of individual fiber types of murine skeletal muscle.
Britta Eggers, Karin Schork, Michael Turewicz, Katalin Barkovits, Martin Eisenacher, Rolf Schröder, Christoph Stephan Clemen, Katrin Marcus   +7 more
wiley   +1 more source