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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.

Blocking BMP signaling causes hair loss and disrupts hair growth cycles.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Prominin-1 expressing cells in the dermal papilla help regulate hair follicle size and communication but don't aid in skin repair.

The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

Ptprq has multiple forms that change during inner ear development.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

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

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.

Effective, well-tolerated, and affordable treatments are needed for recurrent ischemic priapism.

A new gene mutation causes insulin resistance in a girl and her mother.

Finasteride helps reduce priapism in sickle cell anemia patients.

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

A gene called Gk5 controls lipid production in the skin and affects hair growth.

Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.

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

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Botox increased hair count in men with baldness and might work by improving scalp blood flow.

Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.