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Thus, COL7A1 introns are small. Paper-7964386.
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. Paper-1565380.
For COL7A1 linked families, two main haplotypes were shared by eight families. Paper-12959759.
A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. Paper-12415689.
Human genomic clones containing 24 exons of COL7A1 were isolated and characterized. Paper-7784922.
The prognosis in RDEB cannot always be simply predicted from the COL7A1 genotype. Paper-13961942.
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa. Paper-12615280.
Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma. Paper-13069020.
A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. Paper-14122143.
COL7A1 gene mutations cause dystrophic epidermolysis bullosa, a skin blistering disorder. Paper-1515054.
Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene ( COL7A1). Paper-9290449.
A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa. Paper-11819956.
We therefore screened recessive dystrophic epidermolysis bullosa patients for COL7A1 mutations. Paper-753488.
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Paper-12836900.
This report adds to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa. Paper-1868590.
A total of 23 EB families were genotyped with 5 microsatellite markers overlapping the COL7A1 gene. Paper-12959759.
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. Paper-15168352.
The second case had a single glycine substitution mutation (G2079E) in COL7A1 and had therefore DDEB. Paper-1870956.
We identified a new glycine substitution within the collagenous region in exon 94 of the COL7A1 gene. Paper-12415689.
Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. Paper-12315540.
A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. Paper-13196900.
Analysis of the maternal COL7A1 allele revealed a glycine-to-arginine substitution in exon 91 (G2351R). Paper-560453.
AIMS: LAMB3 and COL7A1 genes code for the laminin-5beta3 chain and type VII collagen, respectively. Paper-13069020.
Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization. Paper-7567596.
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene ( COL7A1). Paper-1232828.
Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene ( COL7A1). Paper-1723141.
The generalized forms of DDEB have been linked to the type VII collagen gene ( COL7A1) on chromosome 3p21. Paper-461511.
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. Paper-1897210.
In this study, we performed mutation analysis in the COL7A1 gene in twins who displayed a severe DEB phenotype. Paper-560453.
A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. Paper-9817305.
Both autosomal dominant (DDEB) and recessive (RDEB) result from mutations in the type VII collagen gene ( COL7A1). Paper-13196904.
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. Paper-1785173.
A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene. Paper-12220312.
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Paper-1689138.
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene ( COL7A1). Paper-1668393.
Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the gene encoding type VII collagen ( COL7A1). Paper-10550072.
The purpose of this study was to detect alternative splicing of COL7A1 transcript encoding the noncollagenous 1 domain. Paper-9732747.
Mutations in gene COL7A1 encoding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous disease. Paper-12844774.
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. Paper-753488.
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. Paper-15290402.
Mutations in the gene for collagen VII ( COL7A1) have been documented in both types of dystrophic epidermolysis bullosa. Paper-14309813.
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. Paper-534113.
COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignancies. Paper-11306837.
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Paper-14309813.
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Paper-8404512.
Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain. Paper-9732747.
Mutations in the type VII collagen gene ( COL7A1) have been shown conclusively to underlie dystrophic epidermolysis bullosa. Paper-753488.
COL7A1 mutations in both alleles were identified by screening the 118 exons of COL7A1 and flanking intron regions. Paper-1179593.
METHODS: Haplotypes were constructed by genotyping nine single nucleotides polymorphisms ( SNPs) throughout the COL7A1 gene. Paper-15397409.
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations. Paper-10550072.
We now report a TBDN patient who is compound heterozygous for a recessive and a dominant glycine substitution mutation in COL7A1. Paper-1668394.
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Paper-12959759.
EBD has been linked to the COL7A1 gene at chromosome 3p21 which encodes collagen VII, the major component of the AF. Paper-1113982.
The nature of mutations in COL7A1 and their positions correlate reasonably logically with the severity of the resulting phenotypes. Paper-12836900.
In this study, we have examined the pharmacological control of COL7A1 gene expression by the glucocorticorticoid dexamethasone. Paper-8691457.
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene ( COL7A1) mutations. Paper-1897210.
The human type VII collagen ( COL7A1) gene is the locus for mutations in at least some cases of dystrophic epidermolysis bullosa. Paper-7964386.
Finally, mutational analysis revealed a novel glycine substitution mutation in the COL7A1 gene in three affected family members. Paper-13642824.
The biological consequences of specific COL7A1 mutations and the molecular mechanisms leading to DEB clinical phenotypes are unknown. Paper-12844774.
Mutations in the type VII collagen gene, COL7A1, give rise to the blistering skin disease, dystrophic epidermolysis bullosa. Paper-8301343.
In this study, we report a novel de novo glycine substitution mutation in COL7A1 in a Chinese female patient presenting with mild DEB. Paper-8404512.
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing. Paper-11306837.
We have characterized the first case of a large genomic deletion in chromosome 3p21.31 that removes COL7A1 entirely in an RDEB patient. Paper-11306837.
The genomic location of the type VII collagen gene ( COL7A1) was determined by chromosomal in situ hybridization with the K-131 cDNA. Paper-38738.
Structural organization of the human type VII collagen gene ( COL7A1), composed of more exons than any previously characterized gene. Paper-7964386.
Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type. Paper-11255243.
Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. Paper-9861276.
Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. Paper-2182414.
Since type VII collagen is the major component of anchoring fibrils, the corresponding gene, COL7A1, was proposed as the candidate for DEB. Paper-1232828.
The COL7A1 promoter region is found to lack extensive homologies with promoter regions of other genes expressed primarily in skin. Paper-7964386.
The present study was designed to investigate the effects of TNF-alpha and IL-1beta on COL7A1 expression in epidermal keratinocytes. Paper-11202893.
Examples of aberrant splicing, especially for the COL7A1 gene in patients with dystrophic epidermolysis bullosa, are discussed and illustrated. Paper-10801304.
Mutations in the type VII collagen gene ( COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Paper-1565380.
Here we describe the entire intron/exon organization of COL7A1, which is shown to have 118 exons, more than any previously described gene. Paper-7964386.
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene ( COL7A1) in dominant dystrophic epidermolysis bullosa. Paper-1723141.
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene ( COL7A1). Paper-1868590.
Mutations in the type VII collagen gene ( COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. Paper-2182414.
The dystrophic forms of epidermolysis bullosa result from different types and combinations of mutations in the type VII collagen gene ( COL7A1). Paper-1870957.
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Paper-15168352.
A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Paper-13642824.
OBJECTIVES: Forty-three unrelated Hungarian and German patients with different DEB phenotypes were screened for novel and recurrent COL7A1 mutations. Paper-11249135.
Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. Paper-13196904.
Mutation analysis in this family revealed a novel recessively expressed glycine substitution, G2031S, in exon 73 of the collagen VII gene COL7A1. Paper-8704655.
Thus, the severe RDEB phenotype in the probands results from compound heterozygosity for one glycine substitution and one PTC mutation in COL7A1. Paper-560453.
Mutation in type VII collagen gene ( COL7A1) is thought to be implicated in the underlying change for dystrophic epidermolysis bullosa pruriginosa. Paper-9304230.
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene ( COL7A1). Paper-12186980.
Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. Paper-391567.
Mutations in the type VII collagen gene ( COL7A1) cause an inherited mechanobullous skin disease known as dystrophic epidermolysis bullosa (DEB). Paper-12415689.
Here we investigated two unrelated EBD families with different clinical phenotypes and novel combinations of recessive and dominant COL7A1 mutations. Paper-1113982.
Premature termination codons on both alleles of the type VII collagen gene ( COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. Paper-179445.
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. Paper-10419695.
Downregulation of human type VII collagen ( COL7A1) promoter activity by dexamethasone. Identification of a glucocorticoid receptor binding region. Paper-8691457.
The aim of the current study was to clarify the clinical significance of LAMB3 and COL7A1 mRNA expression in esophageal squamous cell carcinoma (ESC). Paper-13069020.
Mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, have been implicated in the pathogenesis of the disorder. Paper-14122143.
BACKGROUND: Mutations in the type VII collagen gene ( COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). Paper-11249135.
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. Paper-1113982.
We have recently demonstrated tight genetic linkage between the type VII collagen gene ( COL7A1) and both the dominant and recessive forms of dystrophic EB. Paper-119056.
OBJECTIVE: To characterize recurrent p.Glu2857X mutations and show how other COL7A1 mutations influence the phenotype in RDEB patients harboring p.Glu2857X. Paper-12979393.
Thus, different combinations of dominant and recessive COL7A1 mutations can modulate disease activity of EBD and alter the clinical presentation of the patients. Paper-1113982.
DDEB usually involves glycine substitutions within the triple helix of COL7A1 although other missense variants or splice-site alterations may underlie some cases. Paper-13196904.
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1, encoding collagen VII. Paper-14070135.
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. Paper-8704655.
Underlying mutations in the DEB phenotype have been detected in the gene encoding type VII collagen ( COL7A1), both in the dominant and recessive forms of DEB. Paper-1311954.
A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family. Paper-12672766.
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. Paper-1515054.
The five-year survival rate was better in the 22 patients with relatively low expression of both LAMB3 and COL7A1 in comparison with the other 44 cases (p<0.05). Paper-13069020.
A 71-nucleotide COL7A1 intron is the smallest intron yet reported in a collagen gene, and only one COL7A1 intron is greater than 1 kb in length. Paper-7964386.
Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. Paper-2120887.
We report a patient with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa, in whom COL7A1 mutations have been identified on both alleles. Paper-506534.
Interestingly, we found that both cases were caused by a missense glycine substitution mutation by different amino acids in the same codon of COL7A1 (G2028R and G2028A). Paper-8505744.
Both dominant and recessive DEB have been shown to be caused by mutations in COL7A1, the gene encoding type VII collagen which is the major component of anchoring fibrils. Paper-8404512.
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. Paper-7784922.
RESULTS: We report 14 Australian families with different forms of dystrophic epidermolysis bullosa (DEB) with 23 different COL7A1 allelic variants, nine of which were novel. Paper-13196904.
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. Paper-9376944.
Dystrophic epidermolysis bullosa (DEB), caused by mutations in the gene encoding type VII collagen ( COL7A1), is known to show heterogeneous clinical phenotypes. Paper-8505744.
Novel and de novo glycine substitution mutations in the type VII collagen gene ( COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. Paper-1668393.
All 27 individuals with EB pruriginosa were heterozygous for dominant-negative glycine substitution mutations in the COL7A1 gene, six of which have not been reported previously. Paper-13603924.
Mutation detection of the COL7A1 gene revealed a G-->A transition at nucleotide position 6110 in the mutant allele converting a glycine to glutamic acid (G2037E). Paper-1868590.
The COL7A1 gene, which encodes type VII collagen, has been implicated as a candidate gene for dominantly and recessively inherited forms of dystrophic epidermolysis bullosa. Paper-7784922.
DDEB is caused by a heterozygous mutation in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, and phenotypically classified into several types. Paper-12186980.
We recently demonstrated strong genetic linkage between the type VII collagen gene ( COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa. Paper-165695.
In this study, we identified a patient of Hispanic-Mexican origin with a mild form of DEB, which resulted from a de novo dominant glycine substitution, G2043R, in exon 73 of COL7A1. Paper-1723141.
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Paper-461511.
These features are partly similar to those in dystrophic epidermolysis bullosa, which is caused by defects in COL7A1 gene encoding collagen VII, the main anchoring fibril protein. Paper-1668394.
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Paper-8505744.
Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). Paper-11306837.
Sequence analysis revealed a G-->A transition at nucleotide 6118 in the triple helical domain of COL7A1, which converted a glycine residue to a serine (GGT-->AGT). Paper-119056.
All affected individuals also carried missense mutations in exon 73 of COL7A1 which lead to different glycine-to-arginine substitutions in the triple-helical domain of collagen VII. Paper-1113982.
This mutation detection strategy disclosed a G-->A transition at nucleotide position 6,235 which resulted in substitution of a glycine by arginine within the collagenous region of COL7A1. Paper-1870958.
OBJECTIVES: To conduct the first mutational analysis of COL7A1 in a Spanish cohort, to assess mutation consequences at protein/mRNA level and to establish genotype-phenotype correlations. Paper-15168352.
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Paper-1179593.
In addition, we report six intragenic polymorphisms in the type VII collagen gene ( COL7A1) which can be detected by restriction enzyme digestion of polymerase chain reaction-amplified segments. Paper-8022581.
METHODS: To determine the molecular basis of the disease, we performed COL7A1 mutation screening, reverse transcription-polymerase chain reaction ( PCR) and real-time quantitative PCR. Paper-14070135.
In contrast, missense mutations were associated with clearly detectable COL7A1 transcripts and with normal or reduced expression of type VII collagen protein at the dermo/epidermal junction. Paper-1179593.
Certain correlations between the nature or position of COL7A1 mutations and the resultant DEB phenotypes have been suggested, although such relationships may be more complex than initially thought. Paper-8505744.
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. Paper-1618687.
In this study, we searched for mutations in dominant dystrophic epidermolysis bullosa using polymerase chain reaction amplification of segments of COL7A1, followed by heteroduplex analysis. Paper-165695.
The first patient had a premature termination codon within the collagenous region of COL7A1 associated with severe disease, absent anchoring fibrils and undetectable type VII collagen immunostaining. Paper-753488.
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. Paper-11249135.
1. Linkage and recombination analysis of a COL7A1 PvuII intragenic polymorphism versus LS and chromosome 3 markers indicate that COL7A1 is located close to, but distinct from, the LAR1 locus. Paper-391567.
All exons in the COL7A1 triple helix coding region that do not begin with sequences corresponding to imperfections of the triple helix begin with intact codons for Gly residues of Gly-X-Y repeats. Paper-7964386.
Ultrastructural observations of altered anchoring fibrils and genetic linkage to the type VII collagen locus ( COL7A1) have implicated COL7A1 as the candidate gene in the dystrophic forms of EB. Paper-179445.
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. Paper-8301343.
We investigated naturally occurring COL7A1 mutations and showed that some, but not all, glycine substitutions in collagen VII interfered with biosynthesis of the protein in a dominant-negative manner. Paper-1515054.
These results disclosed a G-to-A transition within exon 73 of COL7A1, which results in a glycine-to-arginine substitution within the triple-helical domain of type VII collagen in affected individuals. Paper-534116.
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene ( COL7A1). Paper-12836900.
Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. Paper-12008590.
Patients who were homozygous or compound heterozygotes for mutations leading to PTCs displayed both absence or drastic reduction of COL7A1 transcripts and undetectable type VII collagen protein in skin. Paper-1179593.
We demonstrated that both TNF-alpha and IL-1beta reduced COL7A1 expression in epidermal keratinocytes in an additive manner, whereas they increased COL7A1 expression in dermal fibroblasts. Paper-11202893.
Mutations in DDEB identified thus far are glycine substitutions in the collagenous domain of COL7A1, while the most severe forms of RDEB result from premature termination codon (PTC) mutations on both alleles. Paper-560453.
BACKGROUND: Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited blistering skin disorder caused by mutations in the anchoring fibril type VII collagen gene, COL7A1. Paper-12008590.
Typically, the dominant forms (DDEB) result from glycine substitutions within COL7A1, whereas other glycine mutations are 'silent' in the heterozygous state and produce disease only when they are homozygous. Paper-12415689.
Mutation analysis using polymerase chain reaction and direct sequencing demonstrated a novel nucleotide substitution of 6899A-->G in exon 87 in one COL7A1 allele of the proband and 18 affected family members. Paper-9304230.
Polymerase chain reaction and sequencing of the cDNA, reverse transcribed from the proband's peripheral lymphocyte RNA, suggest that this mutation causes aberrant COL7A1 mRNA splicing of exon 87 skipping. Paper-9304230.
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Paper-14070135.
Inspection of the locations of the glycine substitutions along the COL7A1 polypeptide suggests that the consequences of these mutations, in terms of phenotype and pattern of inheritance, are position independent. Paper-560452.
DEB is derived from mutations in the type VII collagen gene ( COL7A1), encoding a large collagenous protein that is the predominant, if not exclusive, component of the anchoring fibrils at the dermal-epidermal junction. Paper-13153693.
Mutations in the gene COL7A1 encoding type VII collagen cause dystrophic epidermolysis bullosa, a clinically heterogeneous autosomal dominant or recessive blistering disorder of the skin and mucous membranes. Paper-1618687.
Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice-site mutations may underlie some cases. Paper-12836900.
The unifying diagnostic hallmark of DEB is abnormalities in the anchoring fibrils, which consist of type VII collagen, and, recently, mutations in the corresponding gene, COL7A1, have been disclosed in a number of families. Paper-560452.
In this report, we investigate three siblings affected by an unusually mild form of localized recessive dystrophic epidermolysis bullosa who were shown to be compound heterozygotes for novel mutations affecting COL7A1. Paper-1618687.
The patients are compound heterozygotes for two different mutations, both of which result in a premature termination codon in COL7A1, and the parents were shown to be clinically heterozygous carries of the respective mutations. Paper-179445.
We demonstrate that dexamethasone is a potent transcriptional inhibitor of COL7A1 promoter activity in dermal fibroblasts, and we identify a potential glucocorticoid response element in the region -318/-212 of the promoter. Paper-8691457.
We believe the major effect of allogeneic fibroblasts is to increase the recipients' own COL7A1 mRNA levels with greater deposition of mutant type-VII collagen at the DEJ and formation of additional rudimentary anchoring fibrils. Paper-12905128.
Mutations within the gene encoding the anchoring fibril protein type VII collagen ( COL7A1) have recently been established as the pathogenetic basis for the inherited blistering skin disorder, dystrophic epidermolysis bullosa. Paper-506534.
Mutations in the human ColVII gene, COL7A1, cause the severe inherited blistering disorder recessive dystrophic epidermolysis bullosa (RDEB) affecting skin and mucosae, associated with a greatly increased risk of skin cancer. Paper-13799848.
The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils. Paper-165695.
Recent analysis of Bart's original kindred demonstrated ultrastructural abnormalities in the anchoring fibrils and linkage of the inheritance of the disease to the region of chromosome 3 near the type VII collagen gene ( COL7A1). Paper-534116.
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. Paper-1897212.
Previous studies have shown that pro-inflammatory cytokines such as tumor necrosis factor (TNF)-alpha and interleukin (IL)-1beta up-regulate type VII collagen gene ( COL7A1) expression in cultured dermal fibroblasts. Paper-11202893.
The case 1 and 2 patients and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of COL7A1, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively. Paper-12186980.
CONCLUSION: A p.Glu2857X mutation exhibits mild pathogenic effects compared to other PTC mutations in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in RDEB patients. Paper-12979393.
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/ insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Paper-560453.
The complete cDNA sequence and polymorphisms in COL7A1 will facilitate mutational analysis and prenatal diagnosis for patients with the dystrophic forms of epidermolysis bullosa, in which mutations in COL7A1 have been demonstrated. Paper-8022581.
We have developed two new mutation detection strategies for the screening of COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an established protocol using conformational sensitive gel electrophoresis. Paper-8301343.
To better understand the molecular mechanisms of this marked inter-familiar clinical heterogeneity, we examined the entire sequence of all the exons and exon-intron borders as well as the promoter region of COL7A1 in all the three families. Paper-10419695.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering disorder caused by mutations in the COL7A1 gene that lead to reduced type-VII collagen and defective anchoring fibrils at the dermal-epidermal junction (DEJ). Paper-12905128.
We have characterized 21 mutations in the type VII collagen gene ( COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB). Paper-1179593.
Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. Paper-1991587.
Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene ( COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported. Paper-1870956.
These results indicate potential deleterious effects of glucocorticosteroids on epidermal wound healing, as reduced COL7A1 expression likely leads to decreased anchoring fibril formation, which may translate into delayed or impaired reepithelialization. Paper-8691457.
BACKGROUND: General genotype-phenotype correlations have been delineated in recessive dystrophic epidermolysis bullosa (RDEB), but these remain complicated and it is still difficult to assess the clinical consequences of individual COL7A1 mutations. Paper-12979393.
Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene ( COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene. Paper-1870958.
Examination of the polymerase chain reaction corresponding to exon 73 revealed a heteroduplex resulting from a G-to-A transition at nucleotide 6127 in the triple-helical domain of COL7A1, which converted a glycine residue to an arginine (G2043R). Paper-165695.
In this study, we describe a mutation in a family with dystrophic epidermolysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII collagen gene ( COL7A1) and predicted to lead to a frameshift and downstream premature termination codon. Paper-1689138.
Since there is variation of the phenotype, accompanied by heterogeneous anchoring fibril morphology and type VII collagen immunostaining, it is conceivable that different types and combinations of COL7A1 mutations correlate with different phenotypes. Paper-753488.
In addition, the COL7A1 triple helix coding region contains many exons of recurring sizes (e.g., 25 exons are 36 bp, 12 exons are 45 bp, 8 exons are 63 bp), suggesting an evolutionary origin distinct from those of other nonfibrillar collagen genes. Paper-7964386.
Examination of the PCR fragment corresponding to exon 73 of COL7A1 revealed a marked shift in the electrophoretic pattern in patients from a large Finnish dominant dystrophic EB family with genetic linkage to the COL7A1 locus ( Z = 5.37, theta = 0). Paper-119056.
CONCLUSION: This paper has demonstrated for the first time that identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical DDEB and EB pruriginosa. Paper-10419695.
This finding expands the allelic series of COL7A1 mutations underlying mild recessive dystrophic epidermolysis bullosa (RDEB) and sheds further light upon regions of the type VII collagen triple helix that are tolerant of heterozygous glycine substitutions. Paper-12415689.
In search of the mutation, we scanned the entire COL7A1 using polymerase chain reaction ( PCR) amplification of all exons of COL7A1, followed by heteroduplex analysis and direct sequencing of the PCR products that exhibited heteroduplex pattern. Paper-8404512.
We have previously demonstrated genetic linkage between the type VII collagen gene ( COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Paper-560453.
We experienced two boys with DDEB and examined the mutation analyses of the COL7A1 genes of the two patients and their fathers to clarify the relationship between the genotypes and phenotypes, that is, the mutation sites of COL7A1 gene and the clinical types of DDEB. Paper-12186980.
Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases. Paper-12959759.
BACKGROUND: Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele. Paper-10419695.
METHODS: To establish PGD for HS-RDEB, we designed and optimised a sensitive single cell semi-duplex polymerase chain reaction ( PCR) assay for two highly polymorphic dinucleotide repeat microsatellite markers, D3S1581 (telomeric) and D3S1289 (centromeric), close to the COL7A1 gene. Paper-12008590.
DNA specimens were subjected to mutation analysis by polymerase chain reaction ( PCR) amplification of all 118 exons and flanking intronic sequences of COL7A1, followed either by heteroduplex scanning and sequencing of the PCR products demonstrating heteroduplexes or by direct nucleotide sequencing. Paper-13153693.
This study shows that the molecular pathology in patients with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that other factors, in addition to the inherent COL7A1 mutation(s), may be responsible for an epidermolysis bullosa pruriginosa phenotype. Paper-1897210.
A naturally occurring deletion in the human COL7A1 gene, 8523del14, which is associated with dystrophic epidermolysis bullosa and eliminates the BMP-1 consensus sequence, abolished processing of procollagen VII, and in mutant skin procollagen VII accumulated at the dermal-epidermal junction. Paper-9166509.
Consistent with the normal levels of COL7A1 mRNA transcripts detected by northern analysis, immunoblotting and immunofluorescence studies evidenced that the patient keratinocytes synthesize and secrete normal amounts of stable type VII collagen, which is correctly deposited at the dermal-epidermal junction. Paper-1618687.
Four patients had a glycine substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 + 1G-to-A) and a single base pair deletion (7786delG), and a sixth patient was heterozygous for an out-of-frame deletion mutation (6863del16). Paper-1897210.
The predicted rates of substitutions by different amino acids for glycine in the alpha1(I), alpha2(I), alpha1(III), alpha5(IV), and alpha1(VII) chains (encoded by COL1A1, COL1A2, COL3A1, COL4A5, and COL7A1, respectively) were compared with missense mutations in those chains that have been observed to cause disease. Paper-10920082.
Finally, we demonstrated that TNF-alpha and IL-1beta enhanced the TGF-beta- mediated up-regulation of COL7A1 expression in HaCaT keratinocytes, suggesting that the combination of TGF-beta and TNF-alpha or IL-1beta induces a signaling pathway that is completely different from that induced by either pro-inflammatory cytokine alone. Paper-11202893.
These synonyms are used for gene COL7A1 (collagen, type VII, alpha 1): Long-chain collagen, LC collagen, EBR1, EBDCT, EBD1, Collagen alpha-1(VII) chain.
These accession numbers are used for gene COL7A1: Q16507 (UNIPROT__AC), Q14054 (UNIPROT__AC), M96984 (NCBI_GENBANK__AC), D13694 (NCBI_GENBANK__AC).
COL7A1 is a homologue of wu:fc07e08 (wu:fc07e08) from Danio rerio.
COL7A1 is a homologue of COL7A1 (collagen, type VII, alpha 1) from Pan troglodytes.
COL7A1 is a homologue of COL7A1 (collagen, type VII, alpha 1) from Canis lupus familiaris.
COL7A1 is a homologue of Col7a1 (collagen, type VII, alpha 1) from Mus musculus.
Important links !
iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.