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

The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

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

No link found between specific genes and female pattern hair loss.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Genetic factors and diet significantly increase the risk of male pattern baldness.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

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

A new genetic mutation causing Werner's syndrome was found in an Indian man.

Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

Two gene variants cause white spots in cattle.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

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