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450-480 / 1000+ resultsresearch Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Atypical formations of gintonin lysophosphatidic acids as new materials and their beneficial effects on degenerative diseases
New ginseng compounds may help treat degenerative diseases.
research LB793 A phase 1, open-Label, single ascending dose study in healthy subjects of the safety, tolerability and pharmacokinetics of ASLAN004, a novel IgG anti-IL-13 receptor alpha 1 Inhibitor
ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
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.
research The peach RGF/GLV signalling peptide pCTG134 is involved in a regulatory circuit that sustains auxin and ethylene actions
The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
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 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Extraction of Gallic Acid and Ferulic Acid for Application in Hair Supplements
Gallic acid and ferulic acid can be sustainably extracted for hair supplements with high efficiency and stability.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Love is in the hair: arginine methylation of human hair proteins as novel cardiovascular biomarkers
Human hair protein modifications could potentially indicate heart disease risk.
research Efficacy and tolerability of an oral supplement containing amino acids, iron, selenium, and marine hydrolyzed collagen in subjects with hair loss (androgenetic alopecia, AGA or FAGA or telogen effluvium). A prospective, randomized, 3‐month, controlled, assessor‐blinded study
The supplement with amino acids, iron, selenium, and marine hydrolyzed collagen improved hair growth more than drug treatment alone, with most people tolerating it well.
research Ethanol-induced GABAA receptor alpha4 subunit plasticity involves phosphorylation and neuroactive steroids
Chronic ethanol increases certain brain receptor levels, influenced by steroids and protein changes.
research Promotion of homology-directed DNA repair by polyamines
Polyamines help fix DNA damage accurately in cells.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Peroxisome Proliferator Activated Receptor-Gamma Tissue Expression and Gene Polymorphism in Alopecia Areata in an Egyptian Sample
PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research The transdermal inhibition of melanogenesis by a cell-membrane-permeable peptide delivery system based on poly-arginine
A new skin-whitening agent using a peptide from wheat is safe and effective at reducing skin pigmentation.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Injections of Botulinic Neuroprotein Combined with Low Molecular Weight Hyaluronic Acid and Cluster of Lyophilized Amino Acids in One Syringe.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Repair of damaged hair protein fiber by jointly using transglutaminase and keratin
Using an enzyme and keratin treatment can significantly repair and strengthen damaged hair.
research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.