Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function (Q24673017)

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A Zlotogorski

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L Smith

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P Ehrlich

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E Wijsman

5

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R J Livingston

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V P Sybert

American Journal of Human Genetics

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language of work or name

English

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publication date

March 1995

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published in

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volume

56

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issue

3

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page(s)

577-85

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cites work

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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

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Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism

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Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

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Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

7 April 2017

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The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins

7 April 2017

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Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

7 April 2017

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Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

7 April 2017

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

7 April 2017

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The molecular basis of genetic dominance

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

7 April 2017

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Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

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

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

28 September 2017

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A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

28 September 2017

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A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex

28 September 2017

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

28 September 2017

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

28 September 2017

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Epidermolysis bullosa herpetiformis Dowling-Meara in a large family

28 September 2017

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Direct sequencing from low-melt agarose with Sequenase.

28 September 2017

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Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments

28 September 2017

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

28 September 2017

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Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

28 September 2017

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Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

28 September 2017

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Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

28 September 2017

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

28 September 2017

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Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

28 September 2017

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A functional "knockout" of human keratin 14

28 September 2017

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Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.

30 May 2018

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Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

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Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa

30 May 2018

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Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

30 May 2018

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The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene

30 May 2018

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A computer program for linkage analysis of general human pedigrees

30 May 2018

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Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

30 May 2018

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

28 November 2018

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Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences

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Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses

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A routine method for the establishment of permanent growing lymphoblastoid cell lines

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