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Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

A rare EGFR mutation in newborns leads to severe health issues and early death.

A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

A truncated protein linked to breast cancer may change cell adhesion.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

A mutation in the Sgkl gene causes defective hair growth in mice.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.

miR-195-5p reduces hair growth ability in cells by blocking a specific growth signal.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

A certain gene variation can affect protein production and is linked to male pattern baldness.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

A vitamin D receptor mutation causes rickets and affects immune responses.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.