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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.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

UVB radiation changes the levels of certain microRNAs in skin cells, which may affect cell survival and hair growth.

Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.

Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.

The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.

Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.

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

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

The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.