(Q72691286)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

main subject

epidermolysis bullosa

1 reference

1 reference

Hilal L

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Rochat A

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Duquesnoy P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Blanchet-Bardon C

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Wechsler J

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Martin N

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Christiano AM

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Barrandon Y

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Uitto J

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Goossens M

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

publication date

1 November 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

287-293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng1193-287

28 October 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Type VII collagen is a major structural component of anchoring fibrils

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

The structure and function of type VII collagen

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type)

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Keratinocytes and Fibroblasts from a Patient with Mutilating Dystrophic Epidermolysis Bullosa Synthesize Drastically Reduced Amounts of Collagen VII: Lack of Effect of Transforming Growth Factor-β

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Molecular cloning and characterization of type VII collagen cDNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

A rapid procedure for extracting genomic DNA from leukocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-287

7 January 2021

Identifiers

DOI

10.1038/NG1193-287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275094%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference