Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens (Q24306254)

ichthyosis bullosa of Siemens

GOA release 2020-03-11

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D R Roop

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Joseph A Rothnagel

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object named as

J A Rothnagel

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author name string

H Traupe

2

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S Wojcik

3

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M Huber

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D Hohl

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M R Pittelkow

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H Saeki

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Y Ishibashi

https://scigraph.springernature.com/pub.10.1038/ng0894-485

8

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language of work or name

English

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publication date

August 1994

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published in

Nature Genetics

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volume

7

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page(s)

485-90

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issue

4

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exact match

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cites work

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Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

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Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis

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Ichthyosis bullosa of Siemens: further delineation of the phenotype

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Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

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Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation

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Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression

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Epidermal disease: faulty keratin filaments take their toll

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Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

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Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

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Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

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Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

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Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

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A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

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A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis

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Suprabasal marker proteins distinguishing keratinizing squamous epithelia: cytokeratin 2 polypeptides of oral masticatory epithelium and epidermis are different

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