A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform (Q24314762)

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29 November 2024

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GOA release 2020-03-11

structural constituent of cytoskeleton

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GOA release 2020-03-11

RNA splicing

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29 November 2024

H. Winter

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I. Hofmann

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L. Langbein

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M. A. Rogers

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J. Schweizer

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full work available at URL

29 November 2024

language of work or name

English

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publication date

19 December 1997

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http://www.jbc.org/article/S0021925818397709/pdf

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https://api.elsevier.com/content/article/PII:S0021925818397709?httpAccept=text/plain

29 November 2024

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https://syndication.highwire.org/content/doi/10.1074/jbc.272.51.32345

29 November 2024

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Journal of Biological Chemistry

29 November 2024

published in

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volume

272

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issue

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page(s)

32345-52

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cites work

Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins

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Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues. I. Human and bovine hair follicles.

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Cloning and characterization of a mouse type I hair keratin cDNA.

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Differential expression of type I hair keratins

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Sequence and expression of murine type I hair keratins mHa2 and mHa3.

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A cDNA encoding the human type I hair keratin hHa1

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Sequence data and chromosomal localization of human type I and type II hair keratin genes

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A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms

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Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5

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Sequences and differential expression of three novel human type-II hair keratins

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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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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Sequence and expression of human hair keratin genes

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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

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The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro

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In vitro assembly of homopolymer and copolymer filaments from intermediate filament subunits of muscle and fibroblastic cells

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Exon definition may facilitate splice site selection in RNAs with multiple exons

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The cytoskeleton and disease: genetic disorders of intermediate filaments

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Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

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The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

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Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

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Intermediate filaments formed de novo from tail-less cytokeratins in the cytoplasm and in the nucleus

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Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix

21 January 2018

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Reconstitution of intermediate-sized filaments from denatured monomeric vimentin

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Genetic variation in the proteins of human nail

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A Single Point Mutation in the Splice Donor Site of the Low‐Density‐Lipoprotein‐Receptor Gene Produces Intron Read‐Through, Exon‐Skipped and Cryptic‐Site‐Utilized Transcripts

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Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

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