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Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

Mutations in certain receptors can cause diseases and offer new treatment options.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

KRT72 gene helps form hair.

The TRPV3 gene variant may cause the long-haired suri alpaca coat.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

A new genetic mutation was found causing hair and eye issues in a boy.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.

The study identified diverse cell types and gene expressions in ovarian steroid cell tumors, improving understanding of this rare tumor.

A genetic variant in goats is linked to cashmere growth.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.

Björnstad syndrome causes twisted hair from birth.

New treatments targeting specific genes show promise for treating keratin disorders.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.

Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.

Human adrenals and gonads have a unique enzyme for steroid hormone production.

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.

A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.