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The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.

A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.

Mutations in the KRT85 gene cause hair and nail problems.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Myoblast transplantation shows promise for treating various muscle and heart conditions.

SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.

The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.

The enzyme from human skin can cross-link proteins and needs calcium to work.

The Cashmere goat hair keratin gene is crucial for hair structure.

Hydrogen sulfide disrupts protein function and root hair growth in plants by modifying proteins.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

A rare EGFR mutation in newborns leads to severe health issues and early death.

The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.

Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.

C-scores can help predict gain-of-function and loss-of-function mutations.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.

The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

Researchers found four key proteins that affect the development of a specific hair type in Yangtze River Delta white goats.

TAT-GILZ peptide promotes hair growth by boosting stem cell activity.

The gene Prss53 affects hair shape and bone development in rabbits.

Ethanol changes GABAA receptor α4 subunit levels through phosphorylation and neuroactive steroids.

Glycogen helps E. coli cells divide unevenly and organize their contents.