(Q24309362)

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

GOA release 2020-03-11

epidermolysis bullosa

1 reference

A Järvikallio

1

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L Pulkkinen

series ordinal

2

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J Uitto

series ordinal

3

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language of work or name

English

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publication date

1997

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published in

Human Mutation

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volume

10

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issue

5

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page(s)

338-47

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Tissue form of type VII collagen from human skin and dermal fibroblasts in culture

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

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/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A5%3C338%3A%3AAID-HUMU2%3E3.0.CO%3B2-B

7 January 2021