Results 41 to 50 of about 15,770 (195)

Myocyte enhancer factor 2C: an osteoblast transcription factor identified by DMSO enhanced mineralization [PDF]

open access: yes, 2011
Free to read on publisher website Rapid mineralization of cultured osteoblasts could be a useful characteristic in stem-cell mediated therapies for fracture and other orthopaedic problems. Dimethyl sulfoxide (DMSO) is a small amphipathic solvent molecule
Bacic-Welsh, Desa   +6 more
core   +2 more sources

Parental Chromosome-specific Chromatin Conformation in the Imprinted U2af1-rs1 Gene in the Mouse [PDF]

open access: yesJournal of Biological Chemistry, 1997
The imprinted U2af1-rs1 gene on mouse chromosome 11 is expressed exclusively from the paternal allele. We found that U2af1-rs1 resides in a chromosomal domain that displays marked differences in chromatin conformation and DNA methylation between the parental chromosomes.
R, Feil   +3 more
openaire   +2 more sources

Joint Centrality Distinguishes Optimal Leaders in Noisy Networks [PDF]

open access: yes, 2015
We study the performance of a network of agents tasked with tracking an external unknown signal in the presence of stochastic disturbances and under the condition that only a limited subset of agents, known as leaders, can measure the signal directly. We
Fitch, Katherine E.   +1 more
core   +1 more source

A novel gene mutation in a family with X-linked retinoschisis

open access: yesJournal of the Formosan Medical Association, 2015
To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
Yu-Hung Lai   +7 more
doaj   +1 more source

Retinal Proteomic Alterations and Combined Transcriptomic-Proteomic Analysis in the Early Stages of Progression of a Mouse Model of X-Linked Retinoschisis

open access: yesCells, 2022
X-linked retinoschisis (XLRS) is among the most commonly inherited degenerative retinopathies. XLRS is caused by functional impairment of RS1. However, the molecular mechanisms underlying RS1 malfunction remain largely uncharacterized. Here, we performed
Xiuxiu Jin   +10 more
doaj   +1 more source

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

open access: yes, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek   +15 more
core   +1 more source

Management of angle-closure glaucoma with X-linked retinoschisis: a case report

open access: yesBMC Ophthalmology, 2023
Background X-linked retinoschisis (XLRS), due to mutations in the RS1 gene, is a common genetically determined form of macular degeneration. This report describes an unusual case of angle-closure glaucoma (ACG) with XLRS and discusses the treatment. Case
Yanxia Li   +4 more
doaj   +1 more source

Comparative Penicillium spp. Transcriptomics: Conserved Pathways and Processes Revealed in Ungerminated Conidia and during Postharvest Apple Fruit Decay

open access: yesMicroorganisms, 2022
Blue mold, caused by Penicillium spp., is an impactful postharvest disease resulting in significant economic losses due to reduced pome fruit quality and mycotoxin contamination.
Holly P. Bartholomew   +6 more
doaj   +1 more source

A regulatory mutant on TRIM26 conferring the risk of nasopharyngeal carcinoma by inducing low immune response. [PDF]

open access: yes, 2018
The major histocompatibility complex (MHC) is most closely associated with nasopharyngeal carcinoma (NPC), but the complexity of its genome structure has proven challenging for the discovery of causal MHC loci or genes.
Cheng, Zhi   +27 more
core   +2 more sources

Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism

open access: yesMolecular Autism, 2011
Background Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours.
Tansey Katherine E   +5 more
doaj   +1 more source

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