research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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990-1000 / 1000+ results research Functional characterization and unraveling the structural determinants of novel steroid hydroxylase CYP154C7 from Streptomyces sp. PAMC26508
CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
research Cortical cell types and intermediate filament arrangements correlate with fiber curvature in Japanese human hair
Hair curvature in Japanese people is linked to specific cell types and filament arrangements in the hair cortex.
research Structural interspecies variability of mammals' hairs
Mammal hairs have different internal structures.
research Polycystic Ovary Syndrome
PCOS is a common hormonal disorder causing irregular periods and increased hair growth, linked to insulin resistance and long-term health issues.
research Reclassification of Botryococcus braunii chemical races into separate species based on a comparative genomics analysis
Botryococcus braunii's three chemical races should be reclassified as separate species.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Hyperandrogenism in polycystic ovary syndrome and adrenal hyperplasia: finding differences to make a specific diagnosis
Differentiating PCOS from NCAH helps improve diagnosis and treatment.