research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
Search
for
Sort by
Research
720-750 / 1000+ results 
research LB1680 Effects of ganoderma lucidum extract and its active component, ganoderic acid A on hair loss prevention
Ganoderma lucidum extract and its component, ganoderic acid A, may effectively prevent hair loss.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Conversion of C57Bl/6 mice from a tumor promotion–resistant to a –sensitive phenotype by enhanced ornithine decarboxylase expression
Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
research Oral intake of anti-hangover substance increases aldehyde dehydrogenase activity: New preventive and therapeutic potentials for oxidative neuronal injury?
The anti-hangover product may boost enzyme activity to help prevent brain damage.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Role of Ornithine Decarboxylase in Human Hair Follicles
Ornithine decarboxylase is crucial for human hair growth and the hair cycle.
research A Sensitive Assay for the Enzyme Activity in Hair Follicles and Epidermis that Catalyses the Peptidyl-Arginine-Citrulline Post-translational Modification
A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Characterizing enteric neurons in dopamine transporter (DAT)‐Cre reporter mice reveals dopaminergic subtypes with dual‐transmitter content
Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
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 Glycine Inhibits Melanogenesis in Vitro and Causes Hypopigmentation in Vivo
Glycine reduces skin pigmentation by lowering melanin production.
research Glutathione-S-epoxide transferase in human hair follicles
GSH-T levels in hair follicles are similar in smokers and non-smokers and don't increase with certain treatments.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity
Ornithine decarboxylase is crucial for hair growth regulation in mice.
research A glutathione-dependent control of the indole butyric acid pathway supports Arabidopsis root system adaptation to phosphate deprivation
Glutathione helps Arabidopsis roots adapt to low phosphate by regulating a specific growth pathway.
research 1332 Understanding the role of glycogen metabolism in human hair follicle biology
Glycogen metabolism is important for energy and processes in human hair follicles, and hair follicles may produce glucose from lactate.
research 269 The PPAR-γ modulator, N-acetyl-GED, protects from epithelial-mesenchymal-transition to human hair follicles: Potential relevance for scarring alopecia
N-acetyl-GED may help prevent and partially reverse a process that leads to scarring hair loss.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research The Enzymic Derivation of Citrulline Residues from Arginine Residues In Situ during the Biosynthesis of Hair Proteins that are Cross-Linked by Isopeptide Bonds
Hair follicles have an enzyme that converts arginine to citrulline in proteins.
research Semaglutide-Induced Atypical Pustular Drug Eruption: A Case Report
A rash from semaglutide may be due to propylene glycol, not the drug itself.
research Production of a 135-residue long N-truncated human keratinocyte growth factor 1 in Escherichia coli
KGF-1 135 is a stable and effective alternative for treating oral mucositis.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research 597 Outer root sheath is able to synthesise glycogen from lactate-investigating glycogen metabolism in human hair follicles
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair
Giant axonal neuropathy changes the structure of keratin in human hair.