research Gender Difference in Hair Length Revealed by CRISPR-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
Male mice with FGF5 mutations grow longer hair than females.
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5 / 329 resultsresearch A New Compound Heterozygous Frameshift Mutation in the Type II 3 Beta-Hydroxysteroid Dehydrogenase Gene Causes Salt-Wasting 3 Beta-HSD Deficiency Congenital Adrenal Hyperplasia
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
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