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

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

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Mice hair follicles take in the amino acid cystine.

Sheep wool follicles absorb different amino acids at various rates and locations, which could affect wool growth based on diet and genetics.

New hair perming method using tyrosine is gentler and can be done with a blow-dryer.

Hair amino acid levels can indicate metabolic disorders.

2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.

New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

The enzyme is crucial for skin cell development and can be activated without proteolytic activation.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

Certain amino acid analogues can inhibit wool and hair growth and affect fiber strength.

N-acetylcysteine may help treat trichotillomania.

Using laccase to add poly(tyrosine) to wool makes it less likely to shrink and stronger.

Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.

The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

Abnormal amino acid metabolism may worsen rosacea symptoms.

KGF-1 135 is a stable and effective alternative for treating oral mucositis.

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

The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.

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