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.
Search
for
Sort by
Research
240-270 / 1000+ results
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research An Electron Microscopy Study of Keratin Degradation by the Fungus Microsporum gypseum in vitro
Microsporum gypseum fungus breaks down keratin in hair by digesting it enzymatically, starting with less keratinized parts.
research Selective inhibition of glucuronidation and sulfation in vitro and in vivo
research Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
Different keratin types have unique amino acid patterns that are evolutionarily conserved.
research Action of Nucleophilic Reagents on Hair Keratin
Nucleophilic reagents break down hair keratin, forming more lanthionine and lysinoalanine than in wool.
research Hair-specific expression of chloramphenicol acetyltransferase in transgenic mice under the control of an ultra-high-sulfur keratin promoter.
The study showed that a specific DNA sequence can control gene expression in hair growth areas of 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 A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research Modulation of genomic and postgenomic alterations in noncancer diseases and critical periods of life
N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
research Immunoperoxidase anti-keratin staining of epidermal and pilar cysts
Epidermal cysts come from the skin, while pilar cysts come from hair follicles.
research Omega 3 fatty acid-enriched nanoemulsion of thiocolchicoside for transdermal delivery: formulation, characterization and absorption studies
The new formulation improved the skin absorption of the drug Thiocolchicoside.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Lipid droplets and associated proteins in sebocytes
Sebum from sebocytes is important for skin health and linked to conditions like acne and hair loss.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research Importance of Citrullination on Hair Protein Molecular Assembly During Trichocytic Differentiation
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research UNCONVENTIONAL PROTEIN SECRETION OF KERATIN 75 BY AMELOBLASTS IN VIVO
Keratin-75 is secreted by ameloblasts in a unique way without a signal peptide.
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 Oral Supplementation with <sc>l</sc>-Cystine, <i>Serenoa repens</i>, <i>Cucurbita pepo</i>, and <i>Pygeum africanum</i> in Chronic Telogen Effluvium and Androgenetic Alopecia: A Double-Blind, Placebo-Controlled, Randomized Clinical Study
The supplement significantly improves hair density and appearance in people with hair loss.
research Formation of the iε-(γ-glutamyl)lysine crosslink in hair proteins. Investigation of transamidases in hair follicles
Transamidases help form strong crosslinks in hair proteins, crucial for hair strength.
research Cross‐linked features of mouse pelage hair resistant to detergent extraction
Two mouse mutants have defective hair cuticle cross-linking.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.