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Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.

DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Large language models can accurately identify monkeypox from medical records.

The LMNA mutation affects skin structure even in asymptomatic carriers.

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

Large language models struggle with accurate clinical decision-making compared to real-world needs.

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Model improves accuracy in predicting hair loss effects.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.

N1-acetylspermidine promotes hair follicle stem cell self-renewal.

The scaffold effectively prevents melanoma relapse and aids wound healing.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

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

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.