Diseases of epidermal keratins and their linker proteins - Wikidata - awgldk - TriplyDB

Diseases of epidermal keratins and their linker proteins

Diseases of epidermal keratins and their linker proteins

http://www.wikidata.org/entity/Q36832566

about

New common variants affecting susceptibility to basal cell carcinoma Toward unraveling the complexity of simple epithelial keratins in human disease Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise Characterization of in vivo keratin 19 phosphorylation on tyrosine-391 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse Expression of proliferative and inflammatory markers in a full-thickness human skin equivalent following exposure to the model sulfur mustard vesicant, 2-chloroethyl ethyl sulfide Anchoring junctions as drug targets: role in contraceptive development.Therapeutic potential of a non-steroidal bifunctional anti-inflammatory and anti-cholinergic agent against skin injury induced by sulfur mustard.The human keratins: biology and pathology.Keratin gene mutations in disorders of human skin and its appendages.A potential role for endogenous proteins as sacrificial sunscreens and antioxidants in human tissues.Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.Keratin overexpression levels correlate with the extent of spontaneous pancreatic injury.Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.Providing cellular signposts--post-translational modifications of intermediate filaments.Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity RNA-seq analysis of host and viral gene expression highlights interaction between varicella zoster virus and keratinocyte differentiation.Expression of keratins in cutaneous epithelial tumors and related disorders--distribution and clinical significance.Keratinization and its disorders.Keratins and disease at a glance.Hair curvature: a natural dialectic and review.Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments.Dominant cataract formation in association with a vimentin assembly disrupting mutation.Use of fibre dressings in children with severe epidermolysis bullosa.A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.Altered expression of keratin 14 in lesional epidermis of autoimmune skin diseases.Desmosomes in vivo Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant.Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

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Diseases of epidermal keratins and their linker proteins

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2007 nî lūn-bûn

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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2007年论文

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2007年论文

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J.YEXCR.2007.03.029

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Experimental Cell Research

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Diseases of epidermal keratins and their linker proteins

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Gabriele Richard

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John A McGrath

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P2860

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin

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1995-2009

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10.1016/J.YEXCR.2007.03.029

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