research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
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150-180 / 1000+ resultsresearch 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 (RSK1) in a Growth- and Stress-dependent Fashion
Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
research Homo- and heteropolymer self-assembly of recombinant trichocytic keratins
Recombinant keratins can form useful structures for medical applications, overcoming natural keratin limitations.
research Onset of Keratin 17 Expression Coincides with the Definition of Major Epithelial Lineages during Skin Development
Keratin 17 is important for skin development and may help define skin cell types.
research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.
research Structural features and sites of expression of a new murine 65 kD and 48 kD hair-related keratin pair, associated with a special type of parakeratotic epithelial differentiation
A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
research Keratin 79 is a PPARA target that is highly expressed by liver damage
Keratin 79 is linked to liver damage and may help diagnose liver diseases.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research A Novel Type II Cytokeratin, mK6irs, is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath
A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research Keratin expression by corneal and limbal stem cells during development
Different types of cells in the eye express specific keratins at various stages of development.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research K6/ODC transgenic mice as a sensitive model for carcinogen identification
K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin
High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
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 Sequence, expression, and evolutionary conservation of a gene encoding a glycine/tyrosine-rich keratin-associated protein of hair.
KAP6 genes are conserved across species and active in hair follicles.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Keratins 1 and 10 or homologues as regular constituents of inner root sheath and cuticle cells in the human hair follicle.
Keratins K1 and K10 are found in the inner root sheath and cuticle of human hair follicles.