A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (Q34292865)

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20 October 2019

title

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

1 reference

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20 October 2019

main subject

epidermolysis bullosa

1 reference

1

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20 October 2019

author name string

Pollack E

2

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20 October 2019

Hilal L

3

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20 October 2019

Rochat A

4

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20 October 2019

Prost C

5

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20 October 2019

Barrandon Y

6

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20 October 2019

Goossens M

7

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20 October 2019

language of work or name

English

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publication date

1 April 1993

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20 October 2019

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20 October 2019

volume

3

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20 October 2019

issue

4

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20 October 2019

page(s)

327-332

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https://scigraph.springernature.com/pub.10.1038/ng0493-327

20 October 2019

exact match

0 references

cites work

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

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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

21 January 2018

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A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

21 January 2018

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

21 January 2018

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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

21 January 2018

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Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

21 January 2018

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Remarkable conservation of structure among intermediate filament genes

21 January 2018

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A group of type I keratin genes on human chromosome 17: characterization and expression

21 January 2018

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Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

21 January 2018

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Two distinct classes of keratin genes and their evolutionary significance.

21 January 2018

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The molecular biology of intermediate filaments

21 January 2018

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Elucidating the early stages of keratin filament assembly

21 January 2018

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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

21 January 2018

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The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

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A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 January 2018

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Brittle bones--fragile molecules: disorders of collagen gene structure and expression

21 January 2018

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Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

21 January 2018

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Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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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

21 January 2018

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7 January 2021

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

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7 January 2021

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

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7 January 2021

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

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7 January 2021

Molecular genetics of epidermolysis bullosa

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7 January 2021

Of mice and men: genetic skin diseases of keratin

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7 January 2021

Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa

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7 January 2021

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy With Recessive Inheritance

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7 January 2021

Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety

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7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

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7 January 2021

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

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7 January 2021

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Coiled coil formation and sequence regularities in the helical regions of alpha-keratin

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7 January 2021

The coiled-coil molecules of intermediate filaments consist of two parallel chains in exact axial register

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7 January 2021

Intermediate filaments in alpha-keratins

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7 January 2021

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

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7 January 2021

Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen

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7 January 2021

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

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7 January 2021

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

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7 January 2021

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

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7 January 2021

Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy

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7 January 2021

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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7 January 2021

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7 January 2021

Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]

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7 January 2021

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome

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7 January 2021

Identifiers

DOI

10.1038/NG0493-327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7526933%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference