Results 71 to 80 of about 86,674 (251)

Corrigendum: Single nucleotide polymorphisms interactions of the surfactant protein genes associated with respiratory distress syndrome susceptibility in preterm infants

open access: yesFrontiers in Pediatrics, 2022
Shaili Amatya   +7 more
doaj   +1 more source

Comportamiento de los alelos HLA-DQB1*02 y HLA-DQB1*03 en pacientes con diagnóstico presuntivo de enfermedad celíaca Behavior of HLA-DQB1*02 and HLA-DQB1*03 alleles in patients with a presumptive diagnosis of celiac disease

open access: yesRevista Cubana de Medicina, 2011
La enfermedad celíaca (EC) es autoinmune y se observa en individuos genéticamente predispuestos, se caracteriza por la intolerancia a determinadas proteínas llamadas gluten (gliadinas y gluteínas) que se encuentran en el trigo, el centeno y la cebada. Se
Sylvia Torres Odio   +8 more
doaj  

GENOTYPIC STRUCTURE OF THE BUUBEI AND ZABAIKALSKAYA BREED SHEEP ACCORDING TO THE GENES GDF9, CAST, KRT1.2, KAP1.3 AND THEIR RELATIONSHIP WITH PRODUCTIVITY

open access: yesSiberian Journal of Life Sciences and Agriculture
The purpose of this study is to identify the polymorphism of the GDF9, CAST, KRT1.2, KAP1.3 genes and to study their influence on the live weight and wool productivity of the Zabaikalskaya fine-wool breed and coarse-wooled Buubei sheep.
Galina M. Goncharenko   +5 more
doaj   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini   +13 more
wiley   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin   +6 more
wiley   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu   +9 more
wiley   +1 more source

Genome-wide superior alleles, haplotypes and candidate genes associated with tolerance on sodic-dispersive soils in wheat (Triticum aestivum L.) [PDF]

open access: hybrid, 2022
Darshan Sharma   +5 more
openalex   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

Development and validation of allele-specific SNP/indel markers for eight yield-enhancing genes using whole-genome sequencing strategy to increase yield potential of rice, Oryza sativa L. [PDF]

open access: gold, 2016
Sung‐Ryul Kim   +8 more
openalex   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow   +6 more
wiley   +1 more source

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