Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12125
Abstract: Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes within the cytosol, mitochondria, and peroxisomes. Currently, four genetic defects have been described causing impairment of… read more here.
Keywords: thiamine transport; metabolism; genetic defects; genetics ... See more keywords
Prevalence of nine genetic defects in Chinese Holstein cattle
Sign Up to like & getrecommendations! Published in 2021 at "Veterinary Medicine and Science"
DOI: 10.1002/vms3.525
Abstract: Abstract Worldwide use of elite sires has caused inbreeding accumulation and high frequencies of genetic defects in dairy cattle populations. In recent years, several genetic defect genes or haplotypes have been identified in Holstein cattle.… read more here.
Keywords: holstein; genetic defects; holstein haplotype; genetic defect ... See more keywords
Genetic defects in the nef gene are associated with Korean Red Ginseng intake: monitoring of nef sequence polymorphisms over 20 years
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Ginseng Research"
DOI: 10.1016/j.jgr.2016.02.005
Abstract: Background The presence of gross deletions in the human immunodeficiency virus nef gene (gΔnef) is associated with long-term nonprogression of infected patients. Here, we investigated how quickly genetic defects in the nef gene are associated… read more here.
Keywords: nef gene; gene associated; genetic defects; ginseng ... See more keywords
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
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DOI: 10.1182/blood.2022016783
Abstract: The mechanisms of coordinated changes in proteome composition and their relevance for the differentiation of neutrophil granulocytes are not well studied. Here, we discover two novel human genetic defects in SRPRA and SRP19, constituents of… read more here.
Keywords: defects srp19; human genetic; genetic defects; neutrophil granulocytes ... See more keywords
Technical note: Development and application of KASP assays for rapid screening of 8 genetic defects in Holstein cattle.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of dairy science"
DOI: 10.3168/jds.2019-16345
Abstract: Specific DNA mutations underlying several genetic defects associated with embryo loss or reduced calf survivability have been identified in dairy cattle, and a convenient and cost-effective platform is required for their routine screening. We developed… read more here.
Keywords: defects holstein; genetic defects; technical note; kasp assays ... See more keywords
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
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DOI: 10.3390/ijms20194854
Abstract: Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of… read more here.
Keywords: underlying genetic; genetic defects; rod dystrophies; cone cone ... See more keywords