Results 131 to 140 of about 3,786,126 (364)

Chromosome analysis in two unusual malignant blood disorders presumably induced by benzene [PDF]

open access: bronze, 1979
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]

open access: yes, 2019
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  

Attenuated Nuclear Tension Regulates Progerin‐Induced Mechanosensitive Nuclear Wrinkling and Chromatin Remodeling

open access: yesAdvanced Science, EarlyView.
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

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]

open access: yes, 2020
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+ Cancer‐Associated Fibroblasts as Drivers of Angiogenesis and Bladder Cancer Progression

open access: yesAdvanced Science, EarlyView.
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

Most Common Genetic Abnormality and Molecular Mutations on Human Sperm Y Chromosome and their Effects on Male Infertility

open access: yesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2014
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  

deepTFBS: Improving within‐ and Cross‐Species Prediction of Transcription Factor Binding Using Deep Multi‐Task and Transfer Learning

open access: yesAdvanced Science, EarlyView.
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

open access: yesNeurobiology of Disease, 2010
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  

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