Results 111 to 120 of about 91,338 (344)

68 LOSS OF HETEROZYGOSITY OF CHROMOSOME 13 IN OSTEOSARCOMA [PDF]

open access: bronze, 1986
Hans Scheffer   +4 more
openalex   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

open access: yesAdvanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer   +18 more
wiley   +1 more source

T2T Genomes Unveil Centromere Architecture and Adaptive Divergence in Large Yellow Croaker (Larimichthys crocea)

open access: yesAdvanced Science, EarlyView.
This study presents telomere‐to‐telomere genome assemblies for two populations of Larimichthys crocea. We identified centromere‐specific tandem repeats invaded by LTR/ERV1 retrotransposons, unique 5S rRNA enrichment patterns, and population‐specific structural variants. Comparative genomic analyses further reveal distinct adaptive mechanisms in the MYD
Yu Cui   +9 more
wiley   +1 more source

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

open access: yesThe Application of Clinical Genetics
Zhen Xu,1– 3 Na Liu,1– 3 Lu Gao,1– 3 Dongyi Yu1– 3 1Center for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital, Affiliated to Qingdao University, Jinan, Shandong, 250000, People’s Republic of China ...
Xu Z, Liu N, Gao L, Yu D
doaj  

Loss of heterozygosity and SOSTDC1 in adult and pediatric renal tumors

open access: yesJournal of Experimental & Clinical Cancer Research, 2010
Background Deletions within the short arm of chromosome 7 are observed in approximately 25% of adult and 10% of Wilms pediatric renal tumors. Within Wilms tumors, the region of interest has been delineated to a 2-Mb minimal region that includes ten known
Willingham Mark C   +7 more
doaj   +1 more source

Loss of heterozygosity on chromosome 1q in human breast cancer. [PDF]

open access: green, 1989
L C Chen   +2 more
openalex   +1 more source

Macrophage Zc3h12c Limits Tissue Inflammation and Injury via Alternative Splicing of Pre‐mRNA

open access: yesAdvanced Science, EarlyView.
This work defines the context‐dependent function of Zc3h12c in macrophages using the Tnfrsf11a‐Cre system. It reveals Zc3h12c's dual mechanism—regulating RNA degradation and alternative splicing—with STAT1 as a key target. The findings elucidate a novel post‐transcriptional pathway and identify STAT1 isoforms as potential therapeutic targets for kidney
Chenyu Li   +14 more
wiley   +1 more source

PM2.5 Induce Endothelial‐Mesenchymal Transition and Cardiac Fibrosis via the NCOA4‐Mediated Ferritinophagy

open access: yesAdvanced Science, EarlyView.
This study primarily reveals that PM2.5‐derived Fe‐containing particles, particularly magnetite, are specifically enriched in the heart. Here, they interact with NCOA4 in endothelial cells, disrupt iron homeostasis by enhancing ferritinophagy, and subsequently trigger the process of EndMT through the NCOA4/KLF5 pathway.
Qinglin Sun   +11 more
wiley   +1 more source

Auditory Hair Cell Mechanotransduction Channels Dynamically Shape the Mechanical Properties of Their Membrane Environment

open access: yesAdvanced Science, EarlyView.
This work shows, for the first time, that the stereocilia membrane in cochlear hair cells is dynamically regulated by the mechanotransduction channel to impact the membrane mechanical properties. This work provides direct evidence that the opening and closing associated with the MET channel is regulating the membrane viscosity suggesting that the MET ...
Shefin Sam George, Anthony J. Ricci
wiley   +1 more source

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