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.
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210-240 / 1000+ resultsresearch Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Equine Hoof Stratum Internum K14+CD105+ Progenitor Cells: Culture, Characterization, and Model of Epithelial to Mesenchymal Transition
Equine hoof progenitor cells can help develop therapies for hoof diseases like laminitis.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research 706 Engrailed-1 promotes eccrine sweat gland development in permissive environments
The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
research 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 Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice
The 4C32 gene may help in mouse skin development and differentiation.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity
Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
research Electron microscopy in dermatology--basic and clinical research : proceedings of the Joint Meeting for the Japanese Society for Ultrastructural Cutaneous Biology and the Society for Cutaneous Ultrastructure Research, Nara, Japan, 24-27 October 1993
Electron microscopy helps understand skin structure and diseases.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits
KRT85 gene variations can help improve wool traits in sheep through selective breeding.
research A patient with eosinophilia-myalgia syndrome.
The document's conclusion cannot be determined from the provided text.
research Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues.
Different keratins have unique expression patterns in mouse skin cells.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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 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 The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
research Characterization of Mouse Profilaggrin: Evidence for Nuclear Engulfment and Translocation of the Profilaggrin B-Domain during Epidermal Differentiation
Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
research Studies of E2s Related to Unconventional Ubiquitination in Arabidopsis thaliana
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
research Decision letter: Intercellular propagation of extracellular signal-regulated kinase activation revealed by in vivo imaging of mouse skin
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.
research 24 ARQ-234: a high affinity CD200-Fc fusion protein for the treatment of atopic dermatitis
ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Ectopic olfactory receptors in human: New therapeutic possibilities
Olfactory receptors found outside the nose may offer new treatments for diseases like cancer and help in wound healing and hair growth.
research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.