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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

Cysteines in wool fibers are accessible and form important disulfide bonds.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

Overexpressing SSAT enzyme reduces prostate tumor growth in mice.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Increasing SSAT makes skin more prone to cancer.

Bleaching hair increases cysteic acid levels in a predictable way.

A gene mutation in mice causes skin defects and early death.

Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.

A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

Human enzymes can detoxify harmful substances but might also increase their cancer risk.

A new mouse mutation causes skin and hair defects due to a gene change.

Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.

Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Cathepsin L is essential for normal hair growth and development.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.

Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.

A woman developed severe bladder inflammation after cancer treatment with Cytoxan.