Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging

Human Molecular Genetics

Volumn 10, Issue 21, 2001, Pages 2453-2461

  Gache, Y ^a   Allegra, M ^a   Bodemer, C ^b   Pisani Spadafora, A ^a   De Prost, Y ^b   Ortonne, J P ^a   Meneguzzi, G ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ; LAMININ; LAMININ BETA3; MESSENGER RNA; POLYPEPTIDE; UNCLASSIFIED DRUG;

ADHESION; AGING; AMINO TERMINAL SEQUENCE; ARTICLE; BIOCHEMISTRY; BIRTH; BULLOUS SKIN DISEASE; CASE REPORT; CELL PROLIFERATION; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOREACTIVITY; KERATINOCYTE; MOLECULAR EVOLUTION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PURIFICATION; RNA SPLICING; SCHOOL CHILD; SKIN BIOPSY; SKIN EPITHELIUM; STOP CODON;

EID: 0035504318     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.21.2453     Document Type: Article

References (46)

1. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
2. Inherited epidermolysis bullosa
3. Developmental expression of nicein adhesion protein (laminin-5) subunits suggests multiple morphogenic roles
4. Kalinin: An epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments
5. Laminin 5 binds the NC-1 domain of type VII collagen
6. Laminin 5 and hemidesmosomes: Role of the α3 chain subunit in hemidesmosome stability and assembly
7. A new nomenclature for the laminins
8. The assembly of laminin-5 subunits
9. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor
10. Bone morphogenetic protein 1 is an extracellular processing enzyme of the laminin 5 γ 2 chain
11. Assembly of laminin isoforms by triple- and double-stranded coiled-coil structures
12. The complete primary structure for a novel laminin chain, the laminin B1k chain
13. NC1 domain of type VII collagen binds to the β3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats
14. Mutation analysis and molecular genetics of epidermolysis bullosa
15. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression
16. Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype
17. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
18. Cloning of the β 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa
19. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia
20. Herlitz junctional epidermolysis bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency
21. Nonsense mutations and diminished mRNA levels
22. Alternative splicing: A mechanism for phenotypic rescue of a common inherited defect
23. The regulation of splice-site selection, and its role in human disease
24. Nonsense mutations and altered splice-site selection
25. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
26. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing nonsense or frameshift mutations
27. Marked increases of two kinds of two-exon-skipped albumin mRNAs with aging and their further increase by treatment with 3′-methyl-4-dimethylaminoazobenzene in Nagase analbuminemic rats
28. Splicing modulation of integrin β4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
29. Separation of human epidermal stem cells from transit amplifying cells on the basis of differences in integrin function and expression
30. Stem cell patterning and fate in human epidermis
31. Location and clonal analysis of stem cells and their differentiated progeny in the human ocular surface
32. Structure and function of laminin: Anatomy of a multidomain glycoprotein
33. In vivo restoration of laminin 5 β 3 expression and function in junctional epidermolysis bullosa
34. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa
35. Serial cultivation of strains of human epidermal keratinocytes: The formation of keratinizing colonies from single cells
36. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy
37. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa
38. Identification of a new hemidesmosomal protein, HD1: A major, high molecular mass component of isolated hemidesmosomes
39. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody
40. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA
41. Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells
42. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
43. Integrin β 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
44. Establishment and characterization of cell line LSV5 that retains the altered adhesive properties of human junctional epidermolysis bullosa keratinocytes
45. Cleavage of structural proteins during the assembly of the head of bacteriophage T4