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

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.

ESR2 gene linked to female-pattern hair loss.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Blocking interferon-gamma helps prevent and treat hair loss in Alopecia Areata.

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.

Gene variant linked to prostate cancer, hormone levels, and hair loss.

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

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.

Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.

Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.

Tsukushi helps control inflammation and aids in wound healing.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Haplogroup X found in Altaian population supports Amerindian origin.