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A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

SIRT7 protein is crucial for starting hair growth in mice.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

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

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.

REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.

Mutations in the SNRPE gene cause hereditary hair loss.

Researchers found a non-functional sheep keratin gene due to mutations.

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

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.

Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.