Results 61 to 70 of about 423,756 (267)

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

open access: yesAdvanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni   +17 more
wiley   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

open access: yesAdvanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou   +18 more
wiley   +1 more source

Association of combined −344T/C and K173R polymorphisms in aldosterone synthase gene with type 2 diabetes mellitus in the Moroccan population

open access: yesRomanian Journal of Internal Medicine
Background: Aldosterone synthase (CYP11B2) is crucial for aldosterone production, and variations in its gene may influence type 2 diabetes mellitus (T2DM) development. This study explores the link between two single nucleotide polymorphisms (SNPs) in the
Nouhi Youssef   +4 more
doaj   +1 more source

Influence of Immunogenetic Biomarkers in the Clinical Outcome of HTLV-1 Infected Persons

open access: yesViruses, 2019
Human T-lymphotropic virus 1, a member of the Retroviridae family, causes a neglected, silent, persistent infection affecting circa 5 to 10 million people around the world, with biology, immune pathology, clinical diseases, epidemiology, and laboratory ...
Antonio Carlos Rosário Vallinoto   +4 more
doaj   +1 more source

ALL-samples-Q30-snps-recal-beagle-polymorphic.vcf

open access: yes, 2016
Variant call format (VCF) file for 16 Gopherus polyphemus samples for the publication: Elbers, J.P., R.W. Clostio, and S.S. Taylor (2016) Population genetic inferences using immune gene SNPs mirror patterns inferred by microsatellites.
Sabrina S. Taylor (164358)   +5 more
core   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

open access: yesAdvanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song   +9 more
wiley   +1 more source

Polymorphic variations in VDR gene in Saudi women with and without polycystic ovary syndrome (PCOS) and significant influence of seven polymorphic sites on anthropometric and hormonal parameters [PDF]

open access: yesJournal of Medical Biochemistry, 2018
Background: This study was designed to evaluate the associations between vitamin D receptor (VDR) gene polymorphisms and biochemical characteristics of Saudi women with polycystic ovary syndrome (PCOS).
Al-Thomali Arwa   +4 more
doaj  

Identification of Single Nucleotide Polymorphisms in Porcine MAOA Gene Associated with Aggressive Behavior of Weaned Pigs after Group Mixing

open access: yesAnimals, 2019
Understanding the genetic background underlying the expression of behavioral traits has the potential to fasten the genetic progress for reduced aggressive behavior of pigs.
Ruonan Chen   +7 more
doaj   +1 more source

Distribution of TP53 coding nonsynonymous SNPs (nSNPs), coding synonymous SNPs (sSNPs), 3′ UTR SNPs, 5′ UTR SNPs and intronic SNPs.

open access: yes, 2014
Distribution of TP53 coding nonsynonymous SNPs (nSNPs), coding synonymous SNPs (sSNPs), 3′ UTR SNPs, 5′ UTR SNPs and intronic SNPs.
Suneetha Yeguvapalli (612026)   +1 more
core   +1 more source

Disease related non-synonymous SNPs identified by SNPs&GO and PhD-SNP.

open access: yes, 2022
Disease related non-synonymous SNPs identified by SNPs&GO and PhD-SNP.
Fahmida Sultana Rima (13222422)   +3 more
core   +1 more source

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