research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
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5 / 1000+ results research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research High proliferation and delamination during skin epidermal stratification
High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
research Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients
C4BPA protein may link acne severity and insulin resistance.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
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