research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
Search
for
Sort by
Research
90-120 / 1000+ results 
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Response of the Skin of Mice to Methyl Ether of Vitamin A and Vitamin A Palmitate1
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Mechanistic insights into 5-aminolevulinic acid photodynamic therapy for acne vulgaris: targeting lipogenesis via the OLR1-Wnt/β-catenin pathway
5-aminolevulinic acid therapy reduces acne by decreasing fat production in skin cells.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research PRIMERA PARTE EFECTO DEPILATORIO DEL "COCO DE MONO" (LECYTHIS OLLARIA )
"Coco de mono" seeds cause temporary hair loss due to selenocystathionine.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research C‐reactive protein promotes adhesion of monocytes to endothelial cells via NADPH oxidase‐mediated oxidative stress
C-reactive protein helps monocytes stick to blood vessel cells by causing oxidative stress.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Does Dietary Fatty Acid, Decanoic Acid, Prevent Polycystic Ovary Syndrome?
Decanoic acid may help treat PCOS by reducing androgen levels and improving glucose sensitivity.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research 1317 Nicotinic acid suppresses sebaceous lipid synthesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2)
Nicotinic acid reduces excessive oil production in skin cells by activating a specific receptor, which could help treat acne.
research Malassezia Folliculitis
research Nε-(carboxymethyl) lysine (CML) inhibits hair follicle formation by suppressing hair bulb condensation
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Carvone Decreases Melanin Content by Inhibiting Melanoma Cell Proliferation via the Cyclic Adenosine Monophosphate (cAMP) Pathway
Carvone helps treat skin issues by reducing melanin and stopping harmful cell growth.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
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 Pure linoleate deficiency in the rat: influence on growth, accumulation of n-6 polyunsaturates, and [1-14C]linoleate oxidation
Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
research A Review of Metabolic Dysregulation in Lymphocytic Cicatricial Alopecia: Exploring the Connections and Therapeutic Implications
Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.
research Lambertianic Acid from Platycladus orientalis Inhibits Muscle Atrophy in Dexamethasone-Induced C2C12 Muscle Atrophy Cells
Lambertianic acid helps prevent muscle wasting.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Pentacyclic Triterpenoid Maslinic Acid Promotes Hair Growth Comparable to Minoxidil: A New Insight on the Potential Involvement of Cilia Activity
Maslinic acid from olive extracts promotes hair growth like minoxidil.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.