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The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

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

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.

A specific gene mutation causes long hair in Angora rabbits.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Mutations in the LIPH gene cause woolly hair in a child.

Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Transglutaminase does not modify human hair.

A specific gene mutation causes severe skin and nail issues and hair loss.

Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.

CARASIL can cause different symptoms even with the same genetic mutation.

Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.

The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

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

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.