research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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510-540 / 1000+ resultsresearch Evolutionary Trees of Intermediate Filament Proteins
research The location of the thioglycolic acid molecules in intrafibrillar unordered areas of the human hair keratin structure
Thioglycolic acid mainly affects the unordered areas in hair structure.
research The proteomics of keratin proteins
Modern techniques have improved the understanding of keratin proteins, revealing their roles in various cells and potential in disease diagnosis.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research In vitro assembly properties of human type I and II hair keratins
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
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 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 A general mathematical model for the in vitro assembly dynamics of intermediate filament proteins
The model shows that filament flexibility and amino acid differences affect how fast intermediate filament proteins assemble.
research Review of systemic methotrexate therapy in pediatric dermatoses
Methotrexate is effective and well-tolerated in children for certain skin conditions but requires careful monitoring.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Stimuli-Sensitive Nanocarriers for Diagnostic and Therapy
New nanocarriers were developed for safer, targeted drug delivery and diagnostics, showing promise for future medical use.
research Attraction of sensory fibers by Merkel cells during co-culture of sensory ganglia and hair follcies in collagen-gel
research Optimal processing for proteomic genotyping of single human hairs
The method improved hair analysis for better forensic identification.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins
The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Cryo-Electron Microscopy of Trichocyte (Hard α-Keratin) Intermediate Filaments Reveals a Low-Density Core
Trichocyte filaments have a low-density core and may include proteins for hair structure.
research Proteomic analysis of hair shaft and nail plate.
Hair and nail proteins, mainly keratins, are crucial for structure and can indicate health issues.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Immunolocalization of junctional proteins in human hairs indicates that the membrane complex stabilizes the inner root sheath while desmosomes contact the companion layer through specific keratins
Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.