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A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

Keratin 17 is important for skin's response to radiation, affecting many genes and cell division.

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

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

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

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

A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

Mutations in specific genes cause different types of ectodermal dysplasias.

Hair loss in certain mice is linked to changes in keratin-related genes.

Lack of cystatin M/E causes thin hair and dry skin.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

Certain gene variations are linked to the thickness of cashmere goat hair.

Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

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

The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

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

KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.

Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.

Mutations in keratin genes cause cell fragility and various skin disorders.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

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