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A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

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

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A new mouse mutation causes skin and hair defects due to a gene change.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.

Catalytic antibodies are early indicators and active participants in the development of systemic lupus erythematosus.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Scientists found new, better-working inhibitors for a hormone-related enzyme.

Two children with lysinuric protein intolerance showed symptoms similar to lupus.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

The scraggly mutation causes hair loss and skin defects in mice.

Overexpressing SSAT enzyme reduces prostate tumor growth in mice.

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Ectoin helps prevent cortisone-induced skin problems and supports skin health.

Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.

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

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.

Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.

Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.

Mutations in the enzyme don't significantly change how it binds to its specific substances.