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RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.

The PP2A-B55α protein is essential for brain and skin development in embryos.

Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.

Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

ΔNp63α helps control a protein that stops cancer cells from spreading.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

SRD5A2 enzyme expression varies in benign prostates and can be influenced by inflammation, affecting treatment options.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

A unique gene mutation was found in a family with monilethrix.

A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

The rs1128977 gene variant may affect cholesterol and body measurements.

UTX is crucial for skin differentiation and health, especially in females.

SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.

Ptprq has multiple forms that change during inner ear development.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.

TRPS1 is crucial for bone, kidney, and hair follicle development.

A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

A gene mutation causes curly hair and hair loss in rats.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.