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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.

A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A mutation in the KRTHB5 gene causes hair and nail issues.

FTase and GGTase-I are essential for skin keratinocyte health.

The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.

Lack of KSR1 stops certain skin tumors in mice.

Defects in certain proteins cause major heart abnormalities during early development.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Clq deficiency is linked to systemic lupus erythematosus symptoms.

Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.

Riboflavin deficiency in baby pigs causes health issues, and while supplements help, they may not fully fix internal problems.

High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.

Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.

Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.

Canine demodicosis causes skin issues, anemia, and mineral deficiencies in dogs.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

Biotinidase deficiency has various symptoms and can be treated with biotin supplements.

Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.

The ketogenic diet can worsen biotin deficiency, suggesting a need for biotin supplements.

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

A Thai Bangkaew dog with diabetes and pancreatic issues improved with insulin, enzymes, and vitamins.