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

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

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

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

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

Mutations in the hairless gene cause a rare form of permanent hair loss.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

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

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

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

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

A gene mutation in mice causes skin defects and early death.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

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.

The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

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

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.