Results 131 to 140 of about 3,786,126 (364)
Chromosome analysis in two unusual malignant blood disorders presumably induced by benzene [PDF]
Herman Van den Berghe+4 more
openalex +1 more source
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina+8 more
core
The premature aging‐related progerin leads to defective nuclear morphology and is associated with disrupted molecular coupling between the extranuclear cytoskeleton and lamin‐associated nuclear envelope. It is discovered that progerin expression reduces nuclear tension, forms nuclear wrinkling, and enhances chromatin dynamics, thereby regulating ...
Ji‐Eun Park+9 more
wiley +1 more source
Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders. [PDF]
O. Thomas Mueller+5 more
openalex +1 more source
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]
A significant number of X-linked genes escape from X chromosome inactivation and are associated with a distinct epigenetic signature. One epigenetic modification that strongly correlates with X-escape is reduced DNA methylation in promoter regions. Here,
Anderson, Johnathon D+14 more
core +1 more source
Single‐cell RNA sequencing identifies MMP11⁺ CAFs as pro‐angiogenic cells accumulating during bladder cancer progression. These cells promote angiogenesis by regulating ESM1⁺ tip endothelial cells and recruiting SPP1⁺ macrophages. Tumor‐derived BMP2 promotes their activation.
Wuwu Xu+13 more
wiley +1 more source
BACKGROUND AND OBJECTIVE:Chromosomal or mitochondrial DNA abnormalities are the main causes of male infertility. So far, a lot of genes are identified on X and Y chromosomes that control the spermatogenesis process in a special order.
Eisa Tahmasbpour-Marzooni+1 more
doaj
Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes [PDF]
FA Asimakopoulos+3 more
openalex +1 more source
DeepTFBS leverages deep learning to predict transcription factor binding sites across species, integrating multi‐task and transfer learning approaches to improve performance in data‐scarce scenarios. This study demonstrates enhanced accuracy in intra‐ and cross‐species prediction, revealing conserved regulatory patterns and functional variants.
Jingjing Zhai+8 more
wiley +1 more source
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13
Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj