COL7A1

Summary

Gene Symbol: COL7A1
Description: collagen type VII alpha 1 chain
Alias: EBD1, EBDCT, EBR1, NDNC8, collagen alpha-1(VII) chain, LC collagen, collagen VII, alpha-1 polypeptide, collagen, type VII, alpha 1, long-chain collagen
Species: human

Top Publications

  1. pmc Laminin 5 binds the NC-1 domain of type VII collagen
    P Rousselle
    Institut de Biologie et Chimie des Proteines, Unité Propre de Recherche 412 du Centre National de la Recherche Scientifique, associée à l Université Lyon I, 69367 Lyon Cedex 07, France
    J Cell Biol 138:719-28. 1997
  2. ncbi 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
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107
    Hum Mol Genet 1:475-81. 1992
  3. pmc Human type VII collagen: cDNA cloning and chromosomal mapping of the gene
    M G Parente
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107
    Proc Natl Acad Sci U S A 88:6931-5. 1991
  4. pmc Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania 19107
    J Clin Invest 95:1328-34. 1995
  5. ncbi Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 269:20256-62. 1994
  6. ncbi A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    Nat Genet 4:62-6. 1993
  7. ncbi Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
    P B Cserhalmi-Friedman
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Arch Dermatol Res 289:640-5. 1997
  8. ncbi Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene
    P B Cserhalmi-Friedman
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Lab Invest 78:1483-92. 1998
  9. ncbi Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa
    J E Mellerio
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology The Guy s, King s College and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 112:984-7. 1999
  10. ncbi 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
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 113:673-86. 1999

Research Grants

  1. Olga Igoucheva; Fiscal Year: 2016
  2. Jakub Tolar; Fiscal Year: 2016
  3. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David T Woodley; Fiscal Year: 2012
  4. MOLECULAR BIOLOGY OF COLLAGEN TYPES V AND VII
    DANIEL GREENSPAN; Fiscal Year: 2000
  5. Cell-Based Therapy for Dystrophic Epidermolysis Bullosa
    Olga Igoucheva; Fiscal Year: 2009
  6. Development of Model for Gene Therapy in DDEB
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2001
  7. Gene therapy model for dystrophic epidermolysis bullosa
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2004
  8. Molecular Genetics of the Cutaneous BMZ in EB
    Jouni Uitto; Fiscal Year: 2012
  9. COLLAGEN BIOSYNTHESIS OF CULTURED FIBROBLASTS
    Jouni Uitto; Fiscal Year: 2006
  10. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2006

Detail Information

Publications194 found, 100 shown here

  1. pmc Laminin 5 binds the NC-1 domain of type VII collagen
    P Rousselle
    Institut de Biologie et Chimie des Proteines, Unité Propre de Recherche 412 du Centre National de la Recherche Scientifique, associée à l Université Lyon I, 69367 Lyon Cedex 07, France
    J Cell Biol 138:719-28. 1997
    ....
  2. ncbi 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
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107
    Hum Mol Genet 1:475-81. 1992
    ..These protein domains may confer adhesive properties to NC-1, thereby facilitating the binding of type VII collagen to the lamina densa in the cutaneous basement membrane and the anchoring plaques within the dermis...
  3. pmc Human type VII collagen: cDNA cloning and chromosomal mapping of the gene
    M G Parente
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107
    Proc Natl Acad Sci U S A 88:6931-5. 1991
    ..The genomic location of the type VII collagen gene (COL7A1) was determined by chromosomal in situ hybridization with the K-131 cDNA...
  4. pmc Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania 19107
    J Clin Invest 95:1328-34. 1995
    ..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...
  5. ncbi Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 269:20256-62. 1994
    ..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...
  6. ncbi A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    Nat Genet 4:62-6. 1993
    ..The mutation resides in a highly conserved region of the C-terminus of type VII collagen, strongly suggesting that it is the cause of the disease in this family...
  7. ncbi Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
    P B Cserhalmi-Friedman
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Arch Dermatol Res 289:640-5. 1997
    ..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...
  8. ncbi Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene
    P B Cserhalmi-Friedman
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Lab Invest 78:1483-92. 1998
    ..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...
  9. ncbi Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa
    J E Mellerio
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology The Guy s, King s College and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 112:984-7. 1999
    The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations...
  10. ncbi 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
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 113:673-86. 1999
    Mutations in the type VII collagen gene, COL7A1, give rise to the blistering skin disease, dystrophic epidermolysis bullosa...
  11. ncbi Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa
    T Murata
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160 8582, Japan
    Arch Dermatol Res 292:477-81. 2000
    Dystrophic epidermolysis bullosa (DEB), caused by mutations in the gene encoding type VII collagen (COL7A1), is known to show heterogeneous clinical phenotypes...
  12. ncbi The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen
    Mei Chen
    Department of Medicine, Division of Dermatology, University of Southern California, Los Angeles, California 90033, USA
    J Invest Dermatol 118:1059-64. 2002
    ..It was concluded that patients with inflammatory bowel disease may have IgG autoantibodies to type VII collagen, which exists in both the skin and the gut...
  13. ncbi A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa
    Wei Jiang
    Department of Dermatology, First Hospital, Peking University, Beijing, China
    Acta Derm Venereol 82:187-91. 2002
    ..Mutation in type VII collagen gene (COL7A1) is thought to be implicated in the underlying change for dystrophic epidermolysis bullosa pruriginosa...
  14. ncbi Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa
    Rita Gardella
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Italy
    J Invest Dermatol 119:1456-62. 2002
    ..Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene (COL7A1)...
  15. ncbi The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa
    Hiroyuki Nakamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    J Dermatol Sci 34:195-200. 2004
    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 ..
  16. ncbi 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
    M Csikos
    Department of Dermatology, Semmelweis University, Maria u 41, H 1085 Budapest, Hungary
    Br J Dermatol 152:879-86. 2005
    Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB)...
  17. ncbi Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing
    Matthias Titeux
    INSERM, U563, Toulouse, F 31059, France
    Hum Mutat 27:291-2. 2006
    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)...
  18. pmc Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
    Roslyn Varki
    DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Med Genet 44:181-92. 2007
    ..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 ..
  19. ncbi Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene
    Sigrid M C Broekaert
    Acta Derm Venereol 86:556-7. 2006
  20. ncbi A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family
    Liv Kraemer
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, VC 1526, New York, New York 10032, USA
    Eur J Dermatol 16:615-9. 2006
    ..Mutations in the type VII collagen gene (COL7A1) cause an inherited mechanobullous skin disease known as dystrophic epidermolysis bullosa (DEB)...
  21. ncbi A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa
    Yang Wang
    J Dermatol Sci 46:211-3. 2007
  22. ncbi Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants
    Ningning Dang
    Department of Dermatology, St George Hospital, Sydney, The University of New South Wales, Sydney, NSW, Australia
    J Dermatol Sci 46:169-78. 2007
    ..Both autosomal dominant (DDEB) and recessive (RDEB) result from mutations in the type VII collagen gene (COL7A1).
  23. pmc Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis
    David T Woodley
    Department of Dermatology, The Keck School of Medicine at the University of Southern California, Los Angeles, CA 90033, USA
    J Biol Chem 283:17838-45. 2008
    ..Mutations in gene COL7A1 encoding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous disease...
  24. doi Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa
    Ningning Dang
    Department of Dermatology, St George Hospital, Sydney, Australia
    Exp Dermatol 17:553-68. 2008
    ..DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1)...
  25. doi New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter
    Noor Almaani
    Genetic Skin Disease Group, St John s Institute of Dermatology, King s College London, London, United Kingdom
    Acta Derm Venereol 89:6-11. 2009
    ..The molecular pathology involves mutations in the COL7A1 gene, but the nature of the mutations is similar to those seen in other non-pruritic forms of dystrophic EB...
  26. pmc Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen
    Vera L Martins
    Centre for Cutaneous Research, Cancer Research UK Skin Tumour Laboratory, Institute of Cell and Molecular Science, William Harvey Research Unit, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London E1 2AT, UK
    J Cell Sci 122:1788-99. 2009
    ..Mutations in the human ColVII gene, COL7A1, cause the severe inherited blistering disorder recessive dystrophic epidermolysis bullosa (RDEB) affecting skin ..
  27. doi A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa
    B J Shi
    Department of Dermatology, Second Hospital of Xi an Jiaotong University, Xi an, China
    Clin Exp Dermatol 34:e975-8. 2009
    ..Mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils, have been implicated in the ..
  28. doi 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
    J S Kern
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 161:1089-97. 2009
    Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1, encoding collagen VII...
  29. pmc Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa
    Hye Jin Chung
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, USA
    Dermatol Clin 28:93-105. 2010
    ....
  30. doi The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation
    M J Escámez
    Basic Research Department, Epithelial Biomedicine Division, Regenerative Medicine Unit, CIEMAT CIBERER U714, Av Complutense 22, 28040 Madrid, Spain
    Br J Dermatol 163:155-61. 2010
    Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. The clinical manifestations are highly variable from nail dystrophy to life-threatening blistering, making early molecular diagnosis and prognosis ..
  31. pmc A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
    Natividad Cuadrado-Corrales
    Basic Research Department, Epithelial Biomedicine Division, Regenerative Medicine Unit, CIEMAT, Madrid, Spain
    BMC Med Genet 11:139. 2010
    ..Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma...
  32. doi COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only
    Sara Pruneddu
    Department of Dermatology, University of Sassari, Sassari, Italy
    Dermatology 222:10-4. 2011
    ..All DEB forms are caused by mutations in the COL7A1 gene, which encodes for type VII collagen, the major component of the anchoring fibrils ensuring epithelial-..
  33. doi Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa
    Noor Almaani
    St John s Institute of Dermatology, King s College London, United Kingdom
    Acta Derm Venereol 91:262-6. 2011
    ..and recessive forms of dystrophic epidermolysis bullosa (DEB) result from mutations in the type VII collagen gene (COL7A1)...
  34. doi A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
    C Covaciu
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell Immacolata IRCCS, Via dei Monti di Creta, 104, I 00167 Rome, Italy
    Br J Dermatol 165:678-82. 2011
    ..DEB-Pr is caused by either dominant (DDEB-Pr) or recessive mutations in the COL7A1 gene encoding type VII collagen (COLVII)...
  35. doi Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa
    Wei Jiang
    Department of Dermatology, Peking University Third Hospital, Beijing, China
    Acta Derm Venereol 92:50-3. 2012
    ..DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr...
  36. ncbi Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene
    A M Christiano
    Department of Dermatology, Jefferson Medical College, Philadelphia, Pennsylvania 19107
    Genomics 21:169-79. 1994
    The human type VII collagen (COL7A1) gene is the locus for mutations in at least some cases of dystrophic epidermolysis bullosa...
  37. pmc Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation
    A Hovnanian
    The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Am J Hum Genet 61:599-610. 1997
    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 (..
  38. ncbi Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering
    N Hammami-Hauasli
    Department of Dermatology, University of Munster, D 48149 Munster, Germany
    J Biol Chem 273:19228-34. 1998
    b>COL7A1 gene mutations cause dystrophic epidermolysis bullosa, a skin blistering disorder...
  39. ncbi 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
    H Shimizu
    J Invest Dermatol 113:419-21. 1999
  40. ncbi Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen
    Anke Rattenholl
    Department of Dermatology, University of Munster, 48149 Munster, Germany
    J Biol Chem 277:26372-8. 2002
    ..A naturally occurring deletion in the human COL7A1 gene, 8523del14, which is associated with dystrophic epidermolysis bullosa and eliminates the BMP-1 consensus ..
  41. ncbi Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1
    S Aho
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Matrix Biol 17:401-12. 1998
    ..Thus, the results indicate several previously undetected interactions of TSP1, which is known to be highly expressed during embryonic development, tissue remodeling and wound healing...
  42. ncbi Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein
    Peter Kahofer
    Department of Dermatology, University of Graz, Graz, Austria
    Pediatr Dermatol 20:243-8. 2003
    ..We present two patients with DEB-I with compound heterozygosity for the two different COL7A1 mutations, one of them (Arg2069Cys in exon 74) carried by the heterozygous mother, the other one (Lys142Arg in ..
  43. ncbi Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations
    J A McGrath
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College and St Thomas Hospitals Medical School, St Thomas Hospital, London, UK
    J Invest Dermatol 113:314-21. 1999
    Non-sense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encoding laminin 5 (LAMA3, LAMB3, or LAMC2) usually result in clinically severe forms of recessive dystrophic or junctional epidermolysis ..
  44. ncbi Molecular complexity of the cutaneous basement membrane zone
    J Uitto
    Department of Dermatology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Mol Biol Rep 23:35-46. 1996
    ..the major, if not the exclusive, component of anchoring fibrils is type VII collagen, encoded by the gene (COL7A1) which consists of 118 distinct exons, the largest number of exons in any gene published thus far...
  45. ncbi Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Akira Ishiko
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    Exp Dermatol 13:229-33. 2004
    ..bullosa (RDEB) is an inherited skin disease caused by mutations in the gene encoding type VII collagen (COL7A1). The mutations are highly variable and this greatly complicates the study of the genotype-phenotype relationships...
  46. doi Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa
    V Pendaries
    INSERM, U563, Toulouse, France
    Gene Ther 17:930-7. 2010
    ..Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genodermatosis caused by loss-of-function mutations in COL7A1 encoding type VII collagen, the component of anchoring fibrils...
  47. pmc Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient
    Jae We Cho
    Department of Dermatology, Keimyung University, School of Medicine, Daegu, Korea
    J Korean Med Sci 24:256-61. 2009
    Dystrophic epidermolysis bullosa (DEB) are caused by mutations in the COL7A1 gene, which encodes type VII collagen...
  48. pmc Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation
    Kei Ito
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo, Japan
    Am J Pathol 175:2508-17. 2009
    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary bullous disease caused by mutations in COL7A1, which encodes type VII collagen (COL7)...
  49. doi Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
    Anna M G Pasmooij
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Invest Dermatol 130:2407-11. 2010
    ..EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently...
  50. doi Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa
    Eva M Murauer
    Division of Molecular Dermatology and eb house Austria, Department of Dermatology, Paracelsus Medical University, Salzburg, Austria
    J Invest Dermatol 131:74-83. 2011
    Functional defects in type VII collagen, caused by premature termination codons on both alleles of the COL7A1 gene, are responsible for the severe autosomal recessive types of the skin blistering disease, recessive dystrophic ..
  51. ncbi A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Hum Mutat 29:267-76. 2008
    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the COL7A1 gene encoding type VII collagen...
  52. ncbi Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa
    S Heinonen
    Departments of Dermatology and Cutaneous Biology, Pathology, Anatomy and Cell Biology, and Biochemistry and Molecular Pharmacology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia
    J Cell Sci 112:3641-8. 1999
    Dystrophic forms of epidermolysis bullosa (DEB) are associated with mutations in the type VII collagen gene (Col7a1) which encodes the major component of anchoring fibrils...
  53. ncbi The clinical spectrum of dystrophic epidermolysis bullosa
    H M Horn
    Department of Dermatology, Royal Infirmary of Edinburgh, Lauriston Place, Edinburgh EH3 9YW, UK
    Br J Dermatol 146:267-74. 2002
    Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen...
  54. pmc A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa
    Hamid Galehdari
    Shahid Chamran University, Faculty of Science, Department of Genetics, Golestan Ave, Ahwaz, Iran
    J Mol Diagn 12:377-9. 2010
    ..Numerous studies underline that both forms are caused by mutations of the COL7A1 gene, which encodes collagen type VII...
  55. ncbi Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol-cytochrome c reductase
    G G Hoffman
    Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison 53706
    J Biol Chem 268:21113-9. 1993
    ..We have located the gene for the human core I protein in the p21 region of chromosome 3, just upstream of the COL7A1 gene which encodes type VII collagen...
  56. pmc Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa
    Jennifer Remington
    Department of Dermatology, University of Southern California, Los Angeles, California, USA
    Mol Ther 17:26-33. 2009
    ..In this study, we evaluated the feasibility of protein therapy in a C7 null mouse (Col7a1(-/-)) which recapitulates the features of human RDEB...
  57. ncbi Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization
    S Kivirikko
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 106:1300-6. 1996
    ..the cutaneous basement membrane zone is attested to by demonstration of mutations in the type VII collagen gene (COL7A1) in patients with dystrophic epidermolysis bullosa...
  58. ncbi COL7A1 mutation G2037E causes epidermal retention of type VII collagen
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, 060 8638, Sapporo, Japan
    J Hum Genet 51:418-23. 2006
    b>COL7A1 glycine substitution (GS) mutations result in dominant and recessive dystrophic epidermolysis bullosa (DDEB and RDEB)...
  59. ncbi Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression
    Michael Naso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 121:1469-78. 2003
    ..To elucidate the transcriptional control elements of the type VII collagen gene (Col7a1), 3 kb of 5' flanking sequence of the mouse gene was cloned, sequenced, and fused to the chloramphenicol ..
  60. ncbi Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
    Daisuke Sawamura
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo 060 8638, Japan
    J Hum Genet 50:543-6. 2005
    ..blistering in response to minor trauma, followed by scarring and nail dystrophy, and is caused by mutations in the COL7A1 gene encoding type VII collagen...
  61. ncbi Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa
    Sheau Chiou Chao
    Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan
    J Formos Med Assoc 106:86-91. 2007
    ..Both dominant and recessive DEB are caused by mutations in COL7A1, the gene encoding type VII collagen, the major component of anchoring fibrils...
  62. pmc Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells
    Jakub Tolar
    Blood and Marrow Transplantation Program, University of Minnesota, Minneapolis, MN 55455, USA
    Blood 113:1167-74. 2009
    ..RDEB) is a disorder of incurable skin fragility and blistering caused by mutations in the type VII collagen gene (Col7a1)...
  63. pmc Long-term type VII collagen restoration to human epidermolysis bullosa skin tissue
    Zurab Siprashvili
    Veterans Affairs Palo Alto Healthcare System, Palo Alto, CA 94304, USA
    Hum Gene Ther 21:1299-310. 2010
    ..retroviral vectors were constructed containing long terminal repeat-driven full-length and epitope-tagged COL7A1 cDNA and evaluated for durability of type VII collagen expression and function in RDEB skin tissue regenerated on ..
  64. doi Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa
    W F Yan
    Department of Dermatology, St George Hospital, University of New South Wales, Sydney, NSW, Australia
    Dermatol Clin 28:367-70, xii. 2010
    ..DEB is caused by mutations in the COL7A1 gene which result in reduced, truncated, or absent type VII collagen, and anchoring fibrils at the dermal-..
  65. ncbi Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype
    Y Shibusawa
    From the Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
    Int J Dermatol 45:302-5. 2006
    ..for a splice-site mutation (6573 +1GtoC) and a nonsense mutation (E2857X) in the type VII collagen gene (COL7A1). Both mutations caused a premature termination codon (PTC)...
  66. ncbi Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation
    Christine Bodemer
    Department of Dermatology, Hopital Necker Enfants Malades, Paris, France
    J Invest Dermatol 121:273-9. 2003
    A number of COL7A1 mutations have now been reported in recessive dystrophic epidermolysis bullosa patients, and the analysis of phenotype-genotype correlations showed evidence for interfamilial and intrafamilial phenotypic variability, ..
  67. ncbi Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa
    V Wessagowit
    Institute of Dermatology, Bangkok, Thailand
    Clin Exp Dermatol 32:687-9. 2007
    ..specialist laboratory at St John's Institute of Dermatology in London and screened for pathogenic mutations in the COL7A1 gene: both individuals were shown to be heterozygous carriers of a splice-site mutation, c.2440G --> C...
  68. doi Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations
    H Schumann
    Department of Dermatology, University Medical Center Freiburg, 79104 Freiburg, Germany
    Br J Dermatol 159:464-9. 2008
    ..Fewer than 40 patients with autosomal dominant or recessive inheritance, or sporadic DEB-Pr, have been described in the literature...
  69. pmc Novel, orally active selective progesterone receptor modulator CP8947 inhibits leiomyoma cell proliferation without adversely affecting endometrium or myometrium
    William H Catherino
    Department of Obstetrics and Gynecology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814 4799, USA
    J Steroid Biochem Mol Biol 122:279-86. 2010
    ..Extracellular matrix components were decreased in leiomyoma cells, including COL1A1 and COL7A1 at nanomolar concentrations...
  70. ncbi Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles
    Nozomi Yonei
    Department of Dermatology, Wakayama Medical University, School of Medicine, Kmiidera, Japan
    J Dermatol 33:802-5. 2006
    Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding collagen, the major component of anchoring fibrils...
  71. ncbi Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa
    L Bruckner-Tuderman
    Department of Dermatology, University of Munster, Germany
    Matrix Biol 18:43-54. 1999
    ..bullosa (DEB), a group of inherited blistering disorders caused by mutations in the gene for collagen VII, COL7A1. Mutation analyses of DEB families have disclosed more than 100 COL7A1 gene defects so far, but the unusual ..
  72. doi A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa
    M Saito
    Department of Dermatology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Clin Exp Dermatol 34:e934-6. 2009
    We report a Japanese infant who had a novel de novo splice-site mutation in the COL7A1 gene, which resulted in in-frame exon 87 skipping...
  73. pmc Renal medullary microRNAs in Dahl salt-sensitive rats: miR-29b regulates several collagens and related genes
    Yong Liu
    Department of Physiology, Medical College of Wisconsin, Milwaukee, Wis, USA
    Hypertension 55:974-82. 2010
    ..gene was linked to a 3'-untranslated segment of collagen genes Col1a1, Col3a1, Col4a1, Col5a1, Col5a2, Col5a3, Col7a1, Col8a1, Mmp2, or Itgb1 but not Col12a1...
  74. pmc 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
    M Vujic
    Department of Clinical Genetics, East Hospital, Gothenburg, Sweden
    Am J Hum Genet 57:1104-13. 1995
    ..1-14.1. Linkage and recombination analysis of a COL7A1 PvuII intragenic polymorphism versus LS and chromosome 3 markers indicate that COL7A1 is located close to, but ..
  75. doi Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa
    Akiko Rokunohe
    Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    J Dermatol 35:336-40. 2008
    ..Genetic analysis identified one novel COL7A1 mutation, a maternal c.238G > C (p.A80P) and one previously reported mutation, a paternal c.3631C > T (p...
  76. ncbi Comparative mapping between human chromosome 3 and porcine chromosome 13
    M Van Poucke
    Department of Animal Nutrition, Genetics, Breeding and Ethology, Faculty of Veterinary Medicine, University of Ghent, Merelbeke, Belgium
    Cytogenet Cell Genet 85:279-84. 1999
    ..In the present study, eight human genes viz., ADCY5, CASR, COL7A1, COL8A1, ITIH1, RHO, SIAT1 and XPC, spread along the length of HSA3, were chosen for expanding the comparative map ..
  77. ncbi Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease
    Filemon K Tan
    Department of Internal Medicine, University of Texas at Houston Medical School, 77030, USA
    Arthritis Rheum 52:865-76. 2005
    ....
  78. doi Se-methylselenocysteine alters collagen gene and protein expression in human prostate cells
    Rachel Hurst
    School of Medicine, Health Policy and Practice, University of East Anglia, Norwich, Norfolk NR4 7TJ, UK
    Cancer Lett 269:117-26. 2008
    ..Significant decreases in expression of collagen type I alpha 1 (COL1A1), COL1A2 and COL7A1 genes were observed in cells adapted to MSC supplementation compared to the control and selenite exposed cells...
  79. ncbi Hereditary skin diseases of anchoring fibrils
    L Bruckner-Tuderman
    Department of Dermatology, University of Munster, Germany
    J Dermatol Sci 20:122-33. 1999
    ..Mutations in the COL7A1 gene encoding collagen VII have been disclosed in a number of DEB families, and the mutation analyses and studies ..
  80. ncbi Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations
    Klaus Peter Zimmer
    Department of Pediatrics, University of Munster, Munster, Germany
    Gastroenterology 122:220-5. 2002
    ..Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-..
  81. ncbi Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
    R Gardella
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Via Valsabbina 19, 25123 Brescia, Italy
    Br J Dermatol 147:450-7. 2002
    Dystrophic epidermolysis bullosa (DEB) is a bullous skin disease caused by mutations in the type VII collagen gene (COL7A1).
  82. ncbi A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa
    G S Chuang
    Department of Deramatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Clin Exp Dermatol 29:304-7. 2004
    ..Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB...
  83. ncbi Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils
    Raymond Brittingham
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 280:191-8. 2005
    ..VII alter its self-assembly and provide a basis for understanding the pathomechanisms leading from mutations in the COL7A1 gene to fragility of the dermal-epidermal junction seen in patients with dystrophic forms of epidermolysis bullosa.
  84. doi Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations
    Peter C van den Akker
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Dermatol Sci 56:9-18. 2009
    ..early-onset, extensive, generalized blistering and scarring, complete absence of type VII collagen, and bi-allelic COL7A1 null mutations; milder 'generalized other RDEB' (RDEB-O) with reduced-to-normal type VII collagen expression, and ..
  85. doi Epidermolysis bullosa pruriginosa in association with lichen planopilaris
    N Almaani
    Genetic Skin Disease Group, St John s Institute of Dermatology, King s College London, Guy s Campus, London, UK
    Clin Exp Dermatol 34:e825-8. 2009
    ..Molecular screening of the COL7A1 gene showed a novel heterozygous glycine substitution in type VII collagen, designated p...
  86. doi Natural gene therapy in dystrophic epidermolysis bullosa
    Peter C van den Akker
    Department of Dermatology, University Medical Center Groningen, University of Groningen, The Netherlands
    Arch Dermatol 148:213-6. 2012
    ..Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease ..
  87. pmc A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle
    Annie Menoud
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland
    PLoS ONE 7:e38823. 2012
    ..We localized the causative mutation to an 18 Mb interval on chromosome 22 by homozygosity mapping. The COL7A1 gene encoding collagen type VII alpha 1 is located within this interval and COL7A1 mutations have been shown to ..
  88. pmc TALEN-based gene correction for epidermolysis bullosa
    Mark J Osborn
    Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
    Mol Ther 21:1151-9. 2013
    ..by a functional deficit of type VII collagen protein due to gene defects in the type VII collagen gene (COL7A1). Gene augmentation therapies are promising, but run the risk of insertional mutagenesis...
  89. doi HEK293-based production platform for γ-retroviral (self-inactivating) vectors: application for safe and efficient transfer of COL7A1 cDNA
    Katharina Hennig
    1 EUFETS GmbH, 55743 Idar Oberstein, Germany
    Hum Gene Ther Clin Dev 25:218-28. 2014
    ..of the amphotropic producer cell (HA820) was challenged by a therapeutic SIN vector transferring the large COL7A1 cDNA...
  90. ncbi [COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis]
    Ning Liu
    Prenatal Diagnosis Center, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China
    Zhonghua Yi Xue Za Zhi 95:277-82. 2015
    To analyze the mutations of COL7A1 gene in two dystrophic epidermolysis bullosa (DEB) pedigrees and make prenatal diagnosis for high-risk 11-week-old fetuses.
  91. pmc Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa
    Christopher Perdoni
    Stem Cell Institute, University of Minnesota, Minneapolis, Minn Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minn
    Transl Res 168:50-8. 2016
    Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production...
  92. doi Osteogenic Profile of Mesenchymal Cell Populations Contributing to Alveolar Bone Formation
    Monika Minaříková
    Institute of Animal Physiology and Genetics CAS, v v i, Brno, Czech Republic
    Cells Tissues Organs 200:339-48. 2014
    ..of the genes Fgf3, Ctsk, Icam-1, Mmp9, Itga3 and Tuft1, and of a wide range of collagens (Col1a2, Col3a1, Col7a1, Col12a1, Col14a1). Decreased expression was detected in the case of Col2a1, Sox9, Smad2 and Vegfb...
  93. doi Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC
    V L Martins
    Centre for Cell Biology and Cutaneous Research, Blizard Institute VLM, MPC, ZS, STM, MA, RC, EOT, Barts Cancer Institute KM, KHD, JFM, Barts and the London School of Medicine and Dentistry and School of Biological and Chemical Sciences CHB, Queen Mary University of London, London, UK Department of Dermatology, St George Hospital, University of NSW, Sydney, NSW, Australia DFM, MHK St John s Institute of Dermatology, Kings College London Guys Campus, London, UK JAM Department of Dermatology and MediCity Research Laboratory, University of Turku, and Turku University Hospital, Turku, Finland AK, VMK Department of Dermatology, University of Southern California, Los Angeles, CA MC
    J Natl Cancer Inst 108:. 2016
    ..recessive dystrophic epidermolysis bullosa (RDEB), an inherited blistering disorder caused by mutations in the COL7A1 gene, develop unexplained aggressive squamous cell carcinomas (SCC)...
  94. ncbi Dynamic remodeling of endometrial extracellular matrix regulates embryo receptivity in cattle
    Saara Carollina Scolari
    S Scolari, Animal Reproduction, University of São Paulo FMVZ, Pirassununga, Brazil
    Reproduction . 2016
    ..Specifically, there was down-regulation of TGFB2, ADAMTS2, 5 and 14, TIMP3 and COL1A2, COL3A1, COL7A1 and COL3A3 in the LF-LCL and P groups...
  95. doi Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability
    Eijiro Akaksa
    Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
    Pediatr Dermatol . 2016
    ..G2251E mutation of COL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of ..
  96. ncbi One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa
    Mahmoud Shekari Khaniani
    Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
    Ann Clin Lab Sci 45:582-4. 2015
    Recessive dystrophic epidermolysis bullosa (RDEB) is an extremely rare subtype of bullous dermatosis caused by the COL7A1 gene mutation...
  97. ncbi The molecular basis of dystrophic epidermolysis bullosa in Mexico
    J C Salas-Alanis
    Servicios Médicos de la Universidad Autónoma de Nuevo León, Monterrey, Mexico
    Int J Dermatol 39:436-42. 2000
    Type VII collagen gene (COL7A1) mutations are the cause of dystrophic epidermolysis bullosa (DEB), but most mutations are specific to individual families, and there are limited data on the nature of COL7A1 mutations in certain ethnic ..
  98. ncbi EB simplex superficialis resulting from a mutation in the type VII collagen gene
    Amalia Martinez-Mir
    J Invest Dermatol 118:547-9. 2002
  99. ncbi Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
    Johannes S Kern
    Department of Dermatology, University of Freiburg, Hauptstrasse 7, Freiburg 79104, Germany
    J Invest Dermatol 126:1006-12. 2006
    ..DEB is caused by mutations in the COL7A1 gene encoding collagen VII in the skin...
  100. pmc SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa
    Matthias Titeux
    INSERM, U563, Toulouse, France
    Mol Ther 18:1509-18. 2010
    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in COL7A1 encoding type VII collagen which forms key structures (anchoring fibrils) for dermal-epidermal adherence...

Research Grants16

  1. Olga Igoucheva; Fiscal Year: 2016
    ..The abnormal assembly of anchoring fibrils is caused by genetic mutations in the gene (COL7A1) encoding collagen type VII synthesized by basal keratinocytes of the epithelium and the fibroblast of the ..
  2. Jakub Tolar; Fiscal Year: 2016
    ..epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in the collagen type VII (C7) gene (COL7A1), and results in a potentially fatal and terribly debilitating disorder...
  3. PURIFICATION OF EPIDERMOLYSIS BULLOSA ANTIGEN
    David T Woodley; Fiscal Year: 2012
    ..Dystrophic Epidermolysis Bullosa (DEB), due to mutations in the gene that encodes for C7 (COL7A1) may be inherited in a dominant or recessive (RDEB) pattern...
  4. MOLECULAR BIOLOGY OF COLLAGEN TYPES V AND VII
    DANIEL GREENSPAN; Fiscal Year: 2000
    ..3) Transcription controls of type VII collagen gene, COL7A1. Mechanisms governing the highly tissue-specific expression of COL7A1 will be explored...
  5. Cell-Based Therapy for Dystrophic Epidermolysis Bullosa
    Olga Igoucheva; Fiscal Year: 2009
    ..The abnormal assembly of anchoring fibrils is caused by genetic mutations in the gene (COL7A1) encoding collagen type VII synthesized by the basal keratinocytes of the epithelium and the fibroblast of the ..
  6. Development of Model for Gene Therapy in DDEB
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2001
    ..of a novel treatment option, utilizing hammerhead ribozymes and deoxyribozymes for the targeted ablation of mutant COL7A1 mRNA...
  7. Gene therapy model for dystrophic epidermolysis bullosa
    PETER CSERHALMI FRIEDMAN; Fiscal Year: 2004
    ..Hammerhead ribozymes and deoxyribozymes targeting mutant COL7A1 mRNA will be designed, manufactured and tested utilizing already established methodology...
  8. Molecular Genetics of the Cutaneous BMZ in EB
    Jouni Uitto; Fiscal Year: 2012
    ..Our hypothesis is that mutations in COL7A1 have broad effects on the structure of cutaneous basement membrane and that critical targets for successful ..
  9. COLLAGEN BIOSYNTHESIS OF CULTURED FIBROBLASTS
    Jouni Uitto; Fiscal Year: 2006
    ....
  10. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2006
    ..forms of EB allowing refinement of genotype/phenotype correlations; (b) identification of novel and de novo COL7A1 mutations in dominant DEB, with an impact on genetic counseling of the families at risk of recurrence; (c) ..
  11. WAVE DNA Fragment Analysis System
    Jouni Uitto; Fiscal Year: 2001
    ..It is highly suitable for analysis of a set of genes in a large number of individuals as well as identification of mutations and polymorphisms in many genes of interest. ..
  12. 12th International Symposium on Basement Membranes
    Jouni Uitto; Fiscal Year: 2005
    ..In that sense, the meeting will meet some of the goals of the National Institutes of Health Roadmap Initiative. ..
  13. Molecular Genetics of Familial Tumoral Calcinosis
    Jouni Uitto; Fiscal Year: 2009
    ..abstract_text> ..
  14. Strategies Towards Gene Therapy for Dystrophic Epidermolysis Bullosa
    Mei Chen; Fiscal Year: 2009
    ..We believe the proposed experiments will give us sufficient information to consider clinical protocols for humans, the long-term goal of this work. ..
  15. Mechanism of Keratinocyte Motility
    David Woodley; Fiscal Year: 2009
    ..Lastly, in our Third Aim, we will develop a novel animal model to examine the veracity of our in vitro data. This model will consist of genetically engineered human skin equivalents grafted onto hairless mice. ..