research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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840-870 / 1000+ results research [Contribution to hair medulla study (author's transl)].
Hair medullary cells in mammals vary in complexity, with humans having more structured cells similar to inner root sheath cells.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Modification of hair dysplasia curve by radioprotectors containg sulfur as a function of the x-ray dose.
Sulfur-containing radioprotectors can protect hair from X-ray damage if given before exposure but worsen damage if given after.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research BMI1 is required for melanocyte stem cell maintenance and hair pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Misdiagnosis of eosinophilic cystitis: A case report and literature review
Eosinophilic cystitis is often misdiagnosed, but accurate diagnosis and treatment improve outcomes.
research Nutritional roles of selenium in cellular and mouse aging
Selenium helps protect cells from aging and damage, especially under stress.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner
Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.