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This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

Genetic screening can help diagnose and manage infertility in Slovenian couples.

Some people have a genetic variation that makes them less effective at breaking down drugs.

Keratin mutations cause skin diseases and could lead to new treatments.

Clouston Syndrome can be linked to rare sweat gland tumors.

A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.

Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

Fragile hair in children is rarely linked to trichothiodystrophy (TTD).

Cyclosporin A is highly toxic to rats, causing severe health issues and death.

Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.

Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.

TH antibodies in vitiligo and AA patients recognize the same protein parts.

A specific gene mutation causes complete hair loss without other health issues.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

UV light makes skin signs of lack of carotene and vitamin A more visible.

A new gene mutation causes a rare type of hair loss.

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

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.

A new syndrome may link skin, growth, mental, and hair issues.

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.