Results 161 to 170 of about 199,391 (364)
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Sex Chromosome Pairing Mediated by Euchromatic Homology in Drosophila Male Meiosis. [PDF]
Genetics, 2020 Hylton CA +3 more
europepmc +1 more source
, 1998 Transvection is the phenomenon by which the expression of a gene can be controlled by its homologous counterpart in trans, presumably due to pairing of alleles in diploid interphase cells.
Arndt-Jovin, D., Gemkow, M., Verveer, P.
core
Dynamic reorganization of the genome shapes the recombination landscape in meiotic prophase. [PDF]
, 2019 In meiotic prophase, chromosomes are organized into compacted loop arrays to promote homolog pairing and recombination. Here, we probe the architecture of the mouse spermatocyte genome in early and late meiotic prophase using chromosome conformation ...
Chee, Sora +9 more
core +1 more source
STATISTICAL ANALYSIS OF CHROMOSOME PAIRING IN INTERSPECIFIC HYBRIDS. I. THE PROBABILITY DISTRIBUTIONS [PDF]
, 1962 A. G. Sficas
openalex +1 more source
A 3D Genome Atlas of Genetic Variants and Their Pathological Effects in Cancer
Advanced Science, EarlyView.The hierarchical organization of the eukaryotic genome is vital for nuclear function, and disruptions from genetic mutations can alter this 3D architecture. Cataloging thousands of interchromosomal translocations, structural variants, and single nucleotide polymorphisms, their impact on 3D genome organization is revealed. The scoring algorithm, 3DFunc,
Li Tang +6 more
wiley +1 more source
Advanced Science, EarlyView.Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng +11 more
wiley +1 more source
THE FINE STRUCTURE OF MEIOTIC CHROMOSOME PAIRING IN THE TRIPLOID, LILIUM TIGRINUM [PDF]
, 1969 Peter B. Møens
openalex +1 more source
Advanced Science, EarlyView.A critical aspect of chromosomal remodeling in small molecule‐induced multilineage trans‐differentiation(iMT) is elucidated. A dynamic atlas spanning over 35 days profiles terminal trans‐differentiated cells, which reverted to a more youthful state. This study reveals parallels between iMT and other cell fate determination processes, emphasizing an ...
Weigao E +13 more
wiley +1 more source