research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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990-1000 / 1000+ resultsresearch Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Importance of Citrullination on Hair Protein Molecular Assembly During Trichocytic Differentiation
research Role of EZH2 in Uterine Gland Development
EZH2 is crucial for uterine gland development and female fertility.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Androstenedione
Androstenedione, a hormone supplement, doesn't improve muscle or performance and can cause harmful side effects.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Genetic lineage tracing in skin reveals predominant expression of HEY2 in dermal papilla during telogen and that HEY2 + cells contribute to the regeneration of dermal cells during wound healing
HEY2+ cells help regenerate skin during wound healing.