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Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

The research identified new skin traits in mice, some linked to human skin conditions.

Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

A gene mutation causes monilethrix in a Chinese family.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.

XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.

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.

Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.

Proteolytic enzymes damage hair follicles by detaching stem cells.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.

RNase L hinders hair growth by altering immune signals.

Hairless protein reduces Msx2 gene activity, affecting hair follicle development.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

LncRNA018392 helps goat skin cells grow by increasing CSF1R.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

GLABRA2 represses root hair formation by inhibiting a specific gene.

Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A genetic marker linked to a type of hair loss was found in most patients studied.

Mutations in the Whn gene affect hair keratin gene expression differently.