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A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Connexin mutations can cause various diseases like hearing loss and skin disorders.

Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.

The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.

Epigenetic mechanisms control skin development by regulating gene expression.

The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.

Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Deleting the CDSN gene causes severe skin and hair problems, leading to death.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

Injecting specific oligonucleotides can change hair growth and structure by altering a gene.

Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.

Id2 gene helps keep hair follicle stem cells inactive.

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

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.

Human adrenals and gonads have a unique enzyme for steroid hormone production.