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

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

The 2012 criteria are better for diagnosing atypical lupus cases.

STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.

SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

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

CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.

The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.

VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.

KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

Researchers found 15 new genetic links to skin traits in Japanese women.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

Semecarpus anacardium leaf extract fights breast cancer and extends survival in mice.

CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.

Finasteride is high-risk for cognitive disorders, while Carbidopa/Levodopa, Topiramate, and Clonazepam are moderate-risk.

A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.

Researchers found two new genetic variants linked to Alzheimer's disease.

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

A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.

Doxycycline or flucloxacillin can cause a rare, severe skin reaction that can be fatal, especially in the elderly.

Blocking CISD1 reduces hearing loss from cisplatin in mice.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.