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A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.

Researchers found an RNA transcript that might help control a growth factor linked to tumor development.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The fuzzy gene is crucial for controlling hair growth cycles.

Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

Mutations in the Sgk3 gene cause fuzzy hair in mice.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

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

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

A gene mutation in mice causes permanent hair loss and skin issues.

New mutations in the hairless gene may cause hair loss and affect bone development.

FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.

A specific gene mutation causes severe skin and nail issues and hair loss.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.

Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.

A mutation in the human hairless gene causes alopecia universalis.

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