The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. - Wikidata - wikimedia - TriplyDB

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

http://www.wikidata.org/entity/Q30366056

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The toxic effect of R350P mutant desmin in striated muscle of man and mouse Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma Introducing intermediate filaments: from discovery to disease Dysfunctions of neuronal and glial intermediate filaments in disease Role of Intermediate Filaments in Vesicular Traffic Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath Herpesviruses and intermediate filaments: close encounters with the third type Keratin disorders: from gene to therapy Complementary roles of specific cysteines in keratin 14 toward the assembly, organization, and dynamics of intermediate filaments in skin keratinocytes A Drosophila Model of Epidermolysis Bullosa Simplex.Structural basis for heteromeric assembly and perinuclear organization of keratin filaments A Novel Role of Lamins from Genetic Disease to Cancer Biomarkers Order and disorder in intermediate filament proteins Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise Withaferin a alters intermediate filament organization, cell shape and behavior 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 Discovery of keratin function and role in genetic diseases: the year that 1991 was.A role for disulfide bonding in keratin intermediate filament organization and dynamics in skin keratinocytes.Alternative mRNA splicing from the glial fibrillary acidic protein (GFAP) gene generates isoforms with distinct subcellular mRNA localization patterns in astrocytes.Intermediate filaments take the heat as stress proteins.Directed expression of a chimeric type II keratin partially rescues keratin 5-null mice.The Molecular Revolution in Cutaneous Biology: Keratin Genes and their Associated Disease: Diversity, Opportunities, and Challenges.Keratins Are Going Nuclear Sequence-resolved free energy profiles of stress-bearing vimentin intermediate filaments.Lack of association of the WRN C1367T polymorphism with senile cataract in the Israeli population.Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease The lamin protein family.The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis The expanding significance of keratin intermediate filaments in normal and diseased epithelia Self-organization of keratin intermediate filaments into cross-linked networks Systematic identification of pathological lamin A interactors.Keratin gene mutations in disorders of human skin and its appendages.Attractive interactions among intermediate filaments determine network mechanics in vitro Intestinal cell barrier function in vitro is severely compromised by keratin 8 and 18 mutations identified in patients with inflammatory bowel disease.Management of cytoskeleton architecture by molecular chaperones and immunophilins.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 variants predispose to acute liver failure and adverse outcome: race and ethnic associations.

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P2860

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

http://www.wikidata.org/entity/Q30366056

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2008 nî lūn-bûn

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2008 թուականի Մարտին հրատարակուած գիտական յօդուած

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2008 թվականի մարտին հրատարակված գիտական հոդված

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The Human Intermediate Filamen ...... nvolved in many human diseases

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Aparna Venkatesh

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Bernett T K Lee

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Bin Li

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Cheuk Wang Chung

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Danny Chuon

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Declan P Lunny

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E Birgitte Lane

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Goi Hui Eng

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Huijia Chen

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Ildiko Szeverenyi

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351-360

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10.1002/HUMU.20652

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3

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29

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Andrew J. Cassidy

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227765991

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