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

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

HLD10 can include increased body hair and Mongolian spots.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A special receptor in sensory nerve endings helps control how they respond to stretching.

The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

A mutation in the KRT25 gene causes woolly hair and hair loss.

Mutations in the SNRPE gene cause hereditary hair loss.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

Gene differences affect finasteride side effects in men with hair loss.

FGF13 gene changes cause excessive hair growth in a rare condition.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.

A new DSG4 gene mutation causes hair defects in a young girl.

A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.