(Q28284115)

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

New perspectives in cell adhesion: RGD and integrins

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2008.00723.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Type VII collagen is a major structural component of anchoring fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Premature termination codons enhance mRNA decapping in human cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Mutation analysis and molecular genetics of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Transient bullous dermolysis of the newborn in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

A Japanese case of de novo dominant dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Stable nonviral genetic correction of inherited human skin disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2008.00723.X