research Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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5 / 219 resultsresearch Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.
research Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle
This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.
research Early onset female pattern hair loss: a case–control study for analyzing clinical features and genetic variants
This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.
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