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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Researchers found a non-functional sheep keratin gene due to mutations.

RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.

The oncoprotein causes abnormal hair growth without increasing skin cancer risk.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.

Two new gene mutations cause a rare hair disorder.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

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

p53 protein may help protect or kill neurons under stress.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

The antibody 005-C04 blocks prolactin receptors, causing reversible infertility, impaired lactation, and hair regrowth in female mice.

A girl had rickets due to a gene mutation affecting vitamin D response.

Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.

Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.