Results 61 to 70 of about 78,400 (304)

Distribution of progeny obtained from intercrossing Gata4 G295S heterozygote mice.

open access: yes, 2012
Distribution of progeny obtained from intercrossing Gata4 G295S heterozygote mice.
Nita Sachan (165520)   +9 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

open access: yesAnimal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan   +15 more
wiley   +1 more source

Association of endothelial nitric oxide synthase intron 4a/b gene polymorphisms and hypertension: a systematic review and meta-analysis

open access: yesJournal of International Medical Research, 2021
Objective We conducted meta-analysis of relevant case-control trials to determine the association between endothelial nitric oxide synthase (eNOS) intron 4a/b gene polymorphisms and hypertension susceptibility.
Xiru Xu   +5 more
doaj   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

open access: yesArthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan   +12 more
wiley   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

open access: yesFrontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo   +12 more
doaj   +1 more source

Heterozygote/homozygote concordance scatterplot of scaled z−statistics, .

open access: yes, 2022
Each point corresponds to the of the heterozygote and homozygote KO lines of a particular gene. Counts (%) for each significance combination are superimposed; while the axes extend to [−3, 3], the counts apply to all data, including those beyond the ...
Habib Ganjgahi (4470775)   +5 more
core   +1 more source

Cost‐effectiveness of DPYD genotyping prior to fluoropyrimidine‐based treatment for colorectal cancer in Wales

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Background Regulatory guidance in the United Kingdom advises DPYD genotyping prior to fluoropyrimidine‐based treatment. This economic evaluation estimated the costs and outcomes associated with DPYD screening prior to prescribing fluoropyrimidines for colorectal cancer in Wales and also considers additional variants to those included in ...
Catrin O. Plumpton   +8 more
wiley   +1 more source

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

open access: yes, 1989
Because there are no characteristic clinical or biochemical manifestations, the heterozygote state for lipoprotein lipase (LPL) deficiency has been difficult to detect. Measurements of postheparin plasma LPL activity and of LPL mass were performed in six
J D Brunzell   +3 more
core   +1 more source

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan   +24 more
wiley   +1 more source

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China

open access: yesHuman Genomics, 2023
Background G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity.
Ziyan Li   +9 more
doaj   +1 more source

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