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AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A new mouse mutation causes skin and hair defects due to a gene change.

A special receptor in sensory nerve endings helps control how they respond to stretching.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

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

Blocking adenosine A2B receptor may prevent or treat hearing loss.

ESR2 gene linked to female-pattern hair loss.

CD2 might be a new treatment target for patchy alopecia areata.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Mutations in specific genes cause different types of ectodermal dysplasias.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

EP 2 receptor is essential for heart repair by helping macrophages work properly.

Astrotactin2 affects hair follicle orientation and skin cell polarity.

Targeting the MC-5-HT-HTR2A axis may help treat chronic itching.

A specific gene change is linked to severe hair loss.

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

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

The ID2 gene can help distinguish between sensitizers and irritants in skin cells.

Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.

A specific gene mutation causes a severe skin disorder in a family.