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A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

Scientists created cell lines to study a genetic skin disorder using CRISPR technology.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

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

A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.

TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

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

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

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

Two specific genetic markers increase the risk of hair loss in Asian populations.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.

RNA aptamers can specifically block FGF5-related cell growth, potentially treating related diseases or hair disorders.

Blocking certain receptors in the lungs might help treat a specific type of asthma.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

The TRPV3 gene variant may cause the long-haired suri alpaca coat.

Reduced matriptase activity causes skin and hair issues in both humans and mice.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.

A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.