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

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

HtrA2 activity is crucial for normal hair growth by regulating fat cell development.

HSD11b1 affects skin nerves and increases non-histaminergic itch.

RNase L suppresses regeneration in mammals.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

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

Retinoic acid affects male and female muscle energy use and function differently.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.

The HR protein's role as a repressor is essential for controlling hair growth.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

CD98hc's role in skin health decreases with age.

CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Rac1 is crucial for normal hair structure and pigmentation.

A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.

The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.

Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.

Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

LHTric-1 is a specific antibody useful for studying hair and nail formation.

Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.