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

Lack of cystatin M/E causes thin hair and dry skin.

Germ-free rats need biotin for growth and have different vitamin metabolism compared to regular rats.

CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.

Selenium is crucial for health, but both deficiency and excess can cause problems.

Introducing the OTC gene improved symptoms in mice with OTC deficiency.

The study identified key genes and pathways linked to hair disorders, aiding precision medicine.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

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

TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.

Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.

Sebaceous glands age due to genetic and environmental factors, affecting sebum production and composition.

Topical minoxidil does not change the activity of hair follicle enzymes that metabolize it.

The FOS gene helps hair growth in Tan sheep.

A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.

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

A specific gene mutation causes a severe skin disorder in a family.

UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

Sheep wool follicles can metabolize both glucose and acetate using different pathways important for wool growth.

Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Metabolism plays a key role in determining stem cell fate.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.

No link found between specific genes and female pattern hair loss.

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