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

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

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

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

The Itpr3 gene causes a specific hair pattern in mice.

The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Three genes linked to the development of trichilemmal cysts were found.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

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

A unique gene mutation was found in a family with monilethrix.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

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

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

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

A girl had rickets due to a gene mutation affecting vitamin D response.

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

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

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Certain VDR gene changes can affect melanoma risk.

The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.