research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research El futuro incierto: etilogía de la crisis
ROR2 is crucial for hair follicle stem cell maintenance and self-renewal.
research Localization and Regulation of Expression of the FAR-17A Gene in the Hamster Flank Organs
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research Long-lived proteins and DNA as candidate predictive biomarkers for tissue associated diseases
Long-lived proteins may predict age-related diseases.