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Fri Mar 10 15:15:25 2006
Papers with "Dystrophic Epidermolysis Bullosa" in the title

Nodes: 543, Authors: 1177, Journals: 123, Outer References: 2425, Words: 1041
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Collection span: 1952 - 2006
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#LCRNCRNode / Date / Journal / AuthorLCSGCS
131765 1985 JOURNAL OF INVESTIGATIVE DERMATOLOGY 84 (5): 374-377
TIDMAN MJ; EADY RAJ
EVALUATION OF ANCHORING FIBRILS AND OTHER COMPONENTS OF THE DERMAL-EPIDERMAL JUNCTION IN DYSTROPHIC EPIDERMOLYSIS BULLOSA BY A QUANTITATIVE ULTRASTRUCTURAL TECHNIQUE
75155
233727 1980 NEW ENGLAND JOURNAL OF MEDICINE 303 (14): 776-781
BAUER EA; COOPER TW; TUCKER DR; ESTERLY NB
PHENYTOIN THERAPY OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - CLINICAL-TRIAL AND PROPOSED MECHANISM OF ACTION ON COLLAGENASE
27145
341772 1986 BRITISH JOURNAL OF DERMATOLOGY 115 (2): 125-131
HEAGERTY AHM; KENNEDY AR; LEIGH IM; PURKIS P; EADY RAJ
IDENTIFICATION OF AN EPIDERMAL BASEMENT-MEMBRANE DEFECT IN RECESSIVE FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA BY LH 7-2 MONOCLONAL-ANTIBODY - USE IN DIAGNOSIS
60125
4435243 1993 NATURE GENETICS 4 (1): 62-66
CHRISTIANO AM; GREENSPAN DS; HOFFMAN GG; ZHANG X; TAMAI Y; et al.
A MISSENSE MUTATION IN TYPE-VII COLLAGEN IN 2 AFFECTED SIBLINGS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
40117
512918 1978 JOURNAL OF EXPERIMENTAL MEDICINE 148 (5): 1378-1387
BAUER EA; EISEN AZ
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - EVIDENCE FOR INCREASED COLLAGENASE AS A GENETIC CHARACTERISTIC IN CELL-CULTURE
32114
6327139 1991 AMERICAN JOURNAL OF HUMAN GENETICS 49 (4): 797-803
RYYNANEN M; KNOWLTON RG; PARENTE MG; CHUNG LC; CHU ML; et al.
HUMAN TYPE-VII COLLAGEN - GENETIC-LINKAGE OF THE GENE (COL7AI) ON CHROMOSOME-3 TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
3497
731699 1988 JOURNAL OF INVESTIGATIVE DERMATOLOGY 90 (5): 639-642
LEIGH IM; EADY RAJ; HEAGERTY AHM; PURKIS PE; WHITEHEAD PA; et al.
TYPE-VII COLLAGEN IS A NORMAL COMPONENT OF EPIDERMAL BASEMENT-MEMBRANE, WHICH SHOWS ALTERED EXPRESSION IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
3094
8636278 1994 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 91 (9): 3549-3553
CHRISTIANO AM; RYYNANEN M; UITTO J
DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A GLY-]SER SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN
4285
91145229 1993 JOURNAL OF INVESTIGATIVE DERMATOLOGY 100 (4): 366-372
MCGRATH JA; ISHIDAYAMAMOTO A; OGRADY A; LEIGH IM; EADY RAJ
STRUCTURAL VARIATIONS IN ANCHORING FIBRILS IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA - CORRELATION WITH TYPE-VII COLLAGEN EXPRESSION
4880
1002616 1977 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 74 (10): 4646-4650
BAUER EA
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - EVIDENCE FOR AN ALTERED COLLAGENASE IN FIBROBLAST-CULTURES
2679
#LCRNCRNode / Date / Journal / AuthorLCSGCS
111546244 1993 NATURE GENETICS 5 (3): 287-293
HILAL L; ROCHAT A; DUQUESNOY P; BLANCHETBARDON C; WECHSLER J; et al.
A HOMOZYGOUS INSERTION-DELETION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN HALLOPEAU-SIEMENS DYSTROPHIC EPIDERMOLYSIS-BULLOSA
3178
12534121 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 93 (1): 3-9
BRUCKNERTUDERMAN L; MITSUHASHI Y; SCHNYDER UW; BRUCKNER P
ANCHORING FIBRILS AND TYPE-VII COLLAGEN ARE ABSENT FROM SKIN IN SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
3177
13840254 1994 GENOMICS 21 (1): 160-168
CHRISTIANO AM; ANHALT G; GIBBONS S; BAUER EA; UITTO J
PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
4277
14846177 1992 JOURNAL OF CLINICAL INVESTIGATION 89 (3): 974-980
RYYNANEN M; RYYNANEN J; SOLLBERG S; IOZZO RV; KNOWLTON RG; et al.
GENETIC-LINKAGE OF TYPE-VII COLLAGEN (COL7A1) TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN FAMILIES WITH ABNORMAL ANCHORING FIBRILS
2674
151137178 1992 JOURNAL OF CLINICAL INVESTIGATION 90 (3): 1032-1036
HOVNANIAN A; DUQUESNOY P; BLANCHETBARDON C; KNOWLTON RG; AMSELEM S; et al.
GENETIC-LINKAGE OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA TO THE TYPE-VII COLLAGEN GENE
3574
16729301 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58 (4): 671-681
Christiano AM; McGrath JA; Tan KC; Uitto J
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
3763
1733525 1980 JOURNAL OF CLINICAL INVESTIGATION 66 (2): 176-187
VALLE KJ; BAUER EA
ENHANCED BIOSYNTHESIS OF HUMAN-SKIN COLLAGENASE IN FIBROBLAST-CULTURES FROM RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
1454
18416133 1990 JOURNAL OF INVESTIGATIVE DERMATOLOGY 94 (2): 261-264
SMITH LT; SYBERT VP
INTRAEPIDERMAL RETENTION OF TYPE-VII COLLAGEN IN A PATIENT WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
1652
19518340 1997 HUMAN MUTATION 10 (5): 408-414
Christiano AM; Hoffman GG; Zhang X; Xu YL; Tamai Y; et al.
Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
3352
202661329 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61 (3): 599-610
Hovnanian A; Rochat A; Bodemer C; Petit E; Rivers CA; et al.
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation
2551
#LCRNCRNode / Date / Journal / AuthorLCSGCS
211030303 1996 AMERICAN JOURNAL OF HUMAN GENETICS 59 (2): 292-300
Gardella R; Belletti L; Zoppi N; Marini D; Barlati S; et al.
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa
2150
221346246 1994 AMERICAN JOURNAL OF HUMAN GENETICS 55 (2): 289-296
HOVNANIAN A; HILAL L; BLANCHETBARDON C; DEPROST Y; CHRISTIANO AM; et al.
RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
2748
2321792 1988 DERMATOLOGICA 176 (2): 57-64
BRUCKNERTUDERMAN L; RUEGGER S; ODERMATT B; MITSUHASHI Y; SCHNYDER UW
LACK OF TYPE-VII COLLAGEN IN UNAFFECTED SKIN OF PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
046
241332313 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (1): 119-124
Shimizu H; McGrath JA; Christiano AM; Nishikawa T; Uitto J
Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity
3045
252850339 1997 HUMAN MUTATION 10 (5): 338-347
Jarvikallio A; Pulkkinen L; Uitto J
Molecular basis of dystrophic epidermolysis bullosa: Mutations is the type VII collagen gene (COL7A1)
2843
26316105 1989 ARCHIVES OF DERMATOLOGY 125 (4): 520-523
FINE JD; HORIGUCHI Y; COUCHMAN JR
19-DEJ-1, A HEMIDESMOSOME-ANCHORING FILAMENT COMPLEX-ASSOCIATED MONOCLONAL-ANTIBODY - DEFINITION OF A NEW SKIN BASEMENT-MEMBRANE ANTIGENIC DEFECT IN JUNCTIONAL AND DYSTROPHIC EPIDERMOLYSIS BULLOSA
541
27414286 1995 JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (3): 438-440
CHRISTIANO AM; MORRICONE A; PARADISI M; ANGELO C; MAZZANTI C; et al.
A GLYCINE-TO-ARGININE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN IN A FAMILY WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
2541
2834133 1982 JOURNAL OF CLINICAL INVESTIGATION 69 (6): 1373-1383
STRICKLIN GP; WELGUS HG; BAUER EA
HUMAN-SKIN COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - PURIFICATION OF A MUTANT ENZYME FROM FIBROBLAST-CULTURES
1140
29218106 1989 ARCHIVES OF DERMATOLOGY 125 (7): 931-938
FINE JD; STENN J; JOHNSON L; WRIGHT T; BOCK HGO; et al.
AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED PHENOTYPIC FEATURES SUGGESTIVE OF JUNCTIONAL OR DYSTROPHIC EPIDERMOLYSIS BULLOSA, AND ASSOCIATION WITH NEUROMUSCULAR DISEASES
037
30416120 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (4): 623-627
RUSENKO KW; GAMMON WR; FINE JD; BRIGGAMAN RA
THE CARBOXYL-TERMINAL DOMAIN OF TYPE-VII COLLAGEN IS PRESENT AT THE BASEMENT-MEMBRANE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
2335
#LCRNCRNode / Date / Journal / AuthorLCSGCS
311030326 1996 MOLECULAR MEDICINE 2 (1): 59-76
Christiano AM; LaForgia S; Paller AS; McGuire J; Shimizu H; et al.
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)
1035
321272408 1999 MATRIX BIOLOGY 18 (1): 43-54
Bruckner-Tuderman L; Hopfner B; Hammami-Hauasli N
Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa
734
33224175 1992 HISTOPATHOLOGY 20 (3): 237-241
SLATER SD; MCGRATH JA; HOBBS C; EADY RAJ; MCKEE PH
EXPRESSION OF MUTANT P53 GENE IN SQUAMOUS CARCINOMA ARISING IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
232
341042285 1995 JOURNAL OF CLINICAL INVESTIGATION 95 (3): 1328-1334
CHRISTIANO AM; SUGA Y; GREENSPAN DS; OGAWA H; UITTO J
PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
2032
351836318 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 107 (2): 171-177
Dunnill MGS; McGrath JA; Richards AJ; Christiano AM; Uitto J; et al.
Clinicopathological correlations of compound heterozygous COL7A1 mutations recessive dystrophic epidermolysis bullosa
2031
3621640 1983 BRITISH JOURNAL OF DERMATOLOGY 108 (6): 687-694
TAKAMORI K; NAITO K; TANEDA A; OGAWA H
INCREASED NEUTRAL PROTEASE AND COLLAGENASE ACTIVITY IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
1330
37521129 1990 BRITISH JOURNAL OF DERMATOLOGY 122 (3): 383-390
BRUCKNERTUDERMAN L; NIEMI KM; KERO M; SCHNYDER UW; REUNALA T
TYPE-VII COLLAGEN IS EXPRESSED BUT ANCHORING FIBRILS ARE DEFECTIVE IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA INVERSA
1630
38010204 1992 JOURNAL OF MEDICAL GENETICS 29 (6): 381-382
ALIMARA L; RICHARDS AJ; EADY RAJ; LEIGH IM; FARRALL M; et al.
LINKAGE OF AUTOSOMAL DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 3 BRITISH FAMILIES TO THE MARKER D3S2 CLOSE TO THE COL7A1 LOCUS
1630
3922222 1979 JOURNAL OF CLINICAL INVESTIGATION 64 (1): 32-39
BAUER EA; FIEHLER WK; ESTERLY NB
INCREASED GLYCOSAMINOGLYCAN ACCUMULATION AS A GENETIC CHARACTERISTIC IN CELL-CULTURES OF ONE VARIETY OF DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
629
40529201 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 99 (5): 528-530
GRUIS NA; BAVINCK JNB; STEIJLEN PM; VANDERSCHROEFF JG; VANHAERINGEN A; et al.
GENETIC-LINKAGE BETWEEN THE COLLAGEN-VII (COL7A1) GENE AND THE AUTOSOMAL DOMINANT FORM OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 2 DUTCH KINDREDS
1228
#LCRNCRNode / Date / Journal / AuthorLCSGCS
411342288 1995 JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (4): 456-461
HOVNANIAN A; HILAL L; BLANCHETBARDON C; BODEMER C; DEPROST Y; et al.
DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE
1227
42618351 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (2): 246-249
Mellerio JE; Dunnill MGS; Allison W; Ashton GHS; Christiano AM; et al.
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa
2327
4332934 1982 JOURNAL OF INVESTIGATIVE DERMATOLOGY 79: S105-S108
BAUER EA
ABNORMALITIES IN COLLAGENASE EXPRESSION AS INVITRO MARKERS FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
026
4432035 1982 JOURNAL OF INVESTIGATIVE DERMATOLOGY 79 (3): 208-211
KRONBERGER A; VALLE KJ; EISEN AZ; BAUER EA
ENHANCED CELL-FREE TRANSLATION OF HUMAN-SKIN COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
526
4527123 1989 LANCET 1 (8644): 966-966
WHITE JE
MINOCYCLINE FOR DYSTROPHIC EPIDERMOLYSIS BULLOSA
226
46745249 1994 BRITISH JOURNAL OF DERMATOLOGY 130 (5): 617-625
MCGRATH JA; SCHOFIELD OMV; EADY RAJ
EPIDERMOLYSIS-BULLOSA PRURIGINOSA - DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH DISTINCTIVE CLINICOPATHOLOGICAL FEATURES
1226
47613255 1994 HUMAN MOLECULAR GENETICS 3 (9): 1693-1694
DUNNILL MGS; RICHARDS AJ; MILANA G; MOLLICA F; EADY RAJ; et al.
A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
2126
48825317 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (4): 766-770
Christiano AM; McGrath JA; Uitto J
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa
1626
49723345 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 108 (2): 224-228
Kon A; McGrath JA; Pulkkinen L; Nomura K; Nakamura T; et al.
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling
1526
50324119 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (4): 611-616
FINE JD; COUCHMAN JR
CHONDROITIN 6-SULFATE PROTEOGLYCAN BUT NOT HEPARAN-SULFATE PROTEOGLYCAN IS ABNORMALLY EXPRESSED IN SKIN BASEMENT-MEMBRANE FROM PATIENTS WITH DOMINANT AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
425
#LCRNCRNode / Date / Journal / AuthorLCSGCS
51230466 2002 NATURE GENETICS 32 (4): 670-675
Chen M; Kasahara N; Keene DR; Chan L; Hoeffler WK; et al.
Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa
725
5201315 1977 JOURNAL OF PEDIATRIC SURGERY 12 (2): 221-226
FONKALSRUD EW; AMENT ME
SURGICAL MANAGEMENT OF ESOPHAGEAL STRICTURE DUE TO RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
224
5351952 1984 GASTROENTEROLOGY 87 (6): 1376-1380
FEURLE GE; WEIDAUER H; BALDAUF G; SCHULTEBRAUCKS T; ANTONLAMPRECHT I
MANAGEMENT OF ESOPHAGEAL STENOSIS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
724
54934114 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (1): 82-85
WINBERG JO; GEDDEDAHL T; BAUER EA
COLLAGENASE EXPRESSION IN SKIN FIBROBLASTS FROM FAMILIES WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
1724
55230182 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 98 (2): 191-197
KIM YH; WOODLEY DT; WYNN KC; GIOMI W; BAUER EA
RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPE IS PRESERVED IN XENOGRAFTS USING SCID MICE - DEVELOPMENT OF AN EXPERIMENTAL INVIVO MODEL
224
56930300 1995 PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS 107 (2): 245-252
UITTO J; HOVNANIAN A; CHRISTIANO AM
PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
1424
571240302 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58 (4): 682-693
Christiano AM; AntonLamprecht I; Amano S; Ebschner U; Burgeson RE; et al.
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
1524
58447333 1997 ARCHIVES OF DERMATOLOGY 133 (9): 1111-1117
Shimizu H; Sato M; Ban M; Kitajima Y; Ishizaki S; et al.
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa
024
591545338 1997 HUMAN MOLECULAR GENETICS 6 (7): 1125-1135
Winberg JO; HammamiHauasli N; Nilssen O; AntonLamprecht I; Naylor SL; et al.
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene
1624
6042741 1983 COLLAGEN AND RELATED RESEARCH 3 (2): 115-124
CHURCH RL; BAUER EA; EISEN AZ
HUMAN-SKIN COLLAGENASE - ASSIGNMENT OF THE STRUCTURAL GENE TO CHROMOSOME-11 IN BOTH NORMAL AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA CELLS USING HUMAN-MOUSE SOMATIC-CELL HYBRIDS
623
#LCRNCRNode / Date / Journal / AuthorLCSGCS
61222352 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (3): 390-394
Christiano AM; Amano S; Eichenfield LF; Burgeson RE; Uitto J
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein
923
621036391 1999 JOURNAL OF CELL SCIENCE 112 (21): 3641-3648
Heinonen S; Mannikko M; Klement JF; Whitaker-Menezes D; Murphy GF; et al.
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa
123
63029127 1990 ARCHIVES OF DERMATOLOGY 126 (1): 78-83
SMOLLER BA; MCNUTT NS; CARTER DM; GOTTLIEB AB; HSU A; et al.
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA SKIN DISPLAYS A CHRONIC GROWTH-ACTIVATED IMMUNOPHENOTYPE - IMPLICATIONS FOR CARCINOGENESIS
922
64316142 1991 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 174 (2): 1003-1008
SAWAMURA D; SUGAWARA T; HASHIMOTO I; BRUCKNERTUDERMAN L; FUJIMOTO D; et al.
INCREASED GENE-EXPRESSION OF MATRIX METALLOPROTEINASE-3 (STROMELYSIN) IN SKIN FIBROBLASTS FROM PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
922
65620350 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 108 (6): 947-949
Lee JYY; Pulkkinen L; Liu HS; Chen YF; Uitto J
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa
1221
661126355 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (5): 684-687
Kon A; Nomura K; Pulkkinen L; Sawamura D; Hashimoto I; et al.
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic
1221
6732629 1981 ARCHIVES OF DERMATOLOGY 117 (9): 529-530
BAUER EA; COOPER TW
THERAPEUTIC CONSIDERATIONS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
520
680539 1983 BRITISH JOURNAL OF DERMATOLOGY 108 (4): 477-483
WOJNAROWSKA FT; EADY RAJ; WELLS RS
DYSTROPHIC EPIDERMOLYSIS BULLOSA PRESENTING WITH CONGENITAL LOCALIZED ABSENCE OF SKIN - REPORT OF 4 CASES
120
690010 1974 BRITISH JOURNAL OF PLASTIC SURGERY 27 (2): 176-181
ZAREM HA; PEARSON RW; LEAF N
SURGICAL MANAGEMENT OF HAND DEFORMITIES IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
919
70310163 1992 BRITISH JOURNAL OF DERMATOLOGY 126 (3): 222-230
PHILLIPS RJ; HARPER JI; LAKE BD
INTRAEPIDERMAL COLLAGEN TYPE-VII IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA - REPORT OF 5 NEW CASES
319
#LCRNCRNode / Date / Journal / AuthorLCSGCS
71823316 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (4): 679-684
Christiano AM; DAlessio M; Paradisi M; Angelo C; Mazzanti C; et al.
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa
1419
72422149 1991 DERMATOLOGICA 182 (4): 235-238
MCGRATH JA; SCHOFIELD OMV; MAYOU BJ; MCKEE PH; EADY RAJ
METASTATIC SQUAMOUS-CELL CARCINOMA RESEMBLING ANGIOSARCOMA COMPLICATING DYSTROPHIC EPIDERMOLYSIS-BULLOSA
718
73630152 1991 JOURNAL OF INVESTIGATIVE DERMATOLOGY 96 (4): 452-458
BRUCKNERTUDERMAN L; GUSCETTI F; EHRENSPERGER F
ANIMAL-MODEL FOR DERMOLYTIC MECHANOBULLOUS DISEASE - SHEEP WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA LACK COLLAGEN-VII
318
742468358 1998 AMERICAN JOURNAL OF HUMAN GENETICS 63 (3): 737-748
Sakuntabhai A; Hammami-Hauasli N; Bodemer C; Rochat A; Prost C; et al.
Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa
618
7513149 1984 BRITISH JOURNAL OF DERMATOLOGY 111 (4): 379-387
TIDMAN MJ; EADY RAJ
EVIDENCE FOR A FUNCTIONAL DEFECT OF THE LAMINA LUCIDA IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA DEMONSTRATED BY SUCTION BLISTERS
617
761544150 1991 JOURNAL OF CLINICAL INVESTIGATION 88 (5): 1716-1721
HOVNANIAN A; DUQUESNOY P; AMSELEM S; BLANCHETBARDON C; LATHROP M; et al.
EXCLUSION OF LINKAGE BETWEEN THE COLLAGENASE GENE AND GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPE
617
77445420 2000 JOURNAL OF BIOLOGICAL CHEMISTRY 275 (32): 24429-24435
Chen M; O'Toole EA; Muellenhoff M; Medina E; Kasahara N; et al.
Development and characterization of a recombinant truncated type VII collagen "minigene" - Implication for gene therapy of dystrophic epidermolysis bullosa
217
7801032 1982 DERMATOLOGICA 165 (1): 39-46
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