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A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Overexpressing SlCLE10 in tomatoes boosts root hair growth and drought tolerance.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Mutations in the enzyme don't significantly change how it binds to its specific substances.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

The PP2A-B55α protein is essential for brain and skin development in embryos.

S100A6 protein is linked to disease progression, especially in cancers.

L-PGDS has specific binding sites for its functions and could help in drug delivery system design.

All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.

Cadd4 effectively reduces cholesterol levels without side effects.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A specific gene mutation causes a severe skin disorder in a family.

Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.

Lamins are vital for cell survival, organ development, and preventing premature aging.

CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.

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

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.

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

Four genes are potential markers for hair loss condition alopecia areata, linked to a specific type of cell death.

Cathepsin L deficiency causes hair and skin issues in mice.

The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

CCC1 is essential for ion balance and proper plant cell function.