research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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990-1000 / 1000+ resultsresearch A toddler case of keratosis follicularis squamosa (Dohi) successfully treated with salicylic acid ointment
Salicylic acid ointment effectively treated a toddler's skin condition.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research Global behavior of solutions in a chemotaxis model for alopecia areata with signal-dependent sensitivity
Sparse hairless patches can develop and stabilize in alopecia areata under certain conditions.
research sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome
PCOS involves genetic and immune factors, especially T cells, affecting its development.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS
The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.