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The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A mutation in the KRT75 gene causes frizzle feathers in chickens.

Mutations in specific genes cause different types of ectodermal dysplasias.

Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.

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

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

Calcium supplements improved bone deformities but not skin papules or hair loss.

Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.

The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.

Scientists created a cell model to study and find treatments for a skin disease called RDEB.

A new therapy for a skin blistering condition has not been developed yet.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.

A gene called HDAC9 might be a new factor in male-pattern baldness.

Deleting part of a gene in mice causes wavy hair and high pup loss.

Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.

A gene mutation causes monilethrix in a Chinese family.

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

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

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.

The naked mutation in mice causes hair loss and helps identify keratin genes.

FGF13 gene changes cause excessive hair growth in a rare condition.

The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.