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A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

Certain genes are linked to the risk of developing Alopecia Areata.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.

Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.

The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A mutation in mice causes hair loss and immune problems.

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

Deleting part of a gene in mice causes wavy hair and high pup loss.

HPV8 causes hair follicle stem cells to grow, leading to skin lesions.

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

Researchers created a mouse model of a type of rickets that does not cause hair loss.

Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

The Gsdma3 gene is essential for normal hair development in mice.

The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.

Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.

HPV8 E6 gene causes growth of certain skin stem cells.

A genetic variant in goats is linked to cashmere growth.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.