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A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.

A specific gene mutation causes sparse, brittle hair in a family.

Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Mutations in the HOXC13 gene cause hair and nail development issues.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

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

A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

Methylation in specific gene region causes finasteride resistance in some BPH patients.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.

Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.

PTCH gene mutations contribute to basal cell carcinoma development.

Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.

The gene Prss53 affects hair shape and bone development in rabbits.

A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.

Some prostate cancers have gene changes that may affect treatment with certain drugs.

H19 may help prevent hair loss by keeping hair cells young.

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

Genetic variants in specific genes cause central centrifugal cicatricial alopecia.

The dog likely has a canine alopecia X-like disorder.

Recognizing minor skin lesions can help identify serious cancer syndromes.

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.