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Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

Septin4 helps kill colon cancer cells by working with the protein BAX.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.

The extracellular matrix affects where tumors can start in the body.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.

5% topical minoxidil improves hair density and quality in monilethrix patients.

Mutations in the SNRPE gene cause hereditary hair loss.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

5% topical minoxidil improves hair density and quality in monilethrix patients.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

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