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

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

DNA methylation of miR-365-1 causes hair follicle stem cell death by affecting DAP3.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.

Using special RNA to target a mutant gene fixed hair problems in mice.

Injecting specific oligonucleotides can change hair growth and structure by altering a gene.

MitoQ helps protect hair cells from damage in hair loss by boosting a protective enzyme.

Keratin 15 cells from hair follicles help develop and maintain skin tumors in mice.

High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

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

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

Keratin 10 end domains may increase skin cancer risk by reducing cell death.

Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

The HSD3B1 variant increases hair loss risk in overweight women with PCOS.

Genetic testing is crucial for diagnosing rare hair loss disorders.

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

PolyQ repeats in neural proteins evolve together, affecting brain function and disease.

HOXC13 is essential for hair and nail development by regulating Foxn1.