Basement membranes and human disease

Cell and Tissue Research

Volumn 339, Issue 1, 2010, Pages 167-188

  Van Agtmael, Tom ^a   Bruckner Tuderman, Leena ^b,c  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Basement membrane; Collagen; Laminin; Nidogen

Indexed keywords

COLLAGEN TYPE 12; COLLAGEN TYPE 4; COLLAGEN TYPE 7; COLLAGEN TYPE 8; COLLAGEN TYPE 9; ENDOSTATIN; ENTACTIN; LAMININ; PERLECAN; PROTEOGLYCAN;

ALPORT SYNDROME; BASEMENT MEMBRANE; BULLOUS PEMPHIGOID; DYSPLASIA; EPIDERMOLYSIS BULLOSA; EYE DISEASE; GENE MUTATION; GOODPASTURE SYNDROME; HUMAN; KIDNEY DISEASE; KIDNEY FUNCTION; KIDNEY POLYCYSTIC DISEASE; LEIOMYOMATOSIS; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NEUROMUSCULAR SYNAPSE; NONHUMAN; PRIORITY JOURNAL; REVIEW; SCHWARTZ JAMPEL SYNDROME; VASCULAR DISEASE;

ANIMALS; COLLAGEN TYPE IV; GLOMERULAR BASEMENT MEMBRANE; HUMANS; MUTATION; NEPHRITIS, HEREDITARY;

EID: 72449139524     PISSN: 0302766X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00441-009-0866-y     Document Type: Review

References (183)

1. DR Abrahamson K Isom E Roach L Stroganova A Zelenchuk JH Miner PL St John 2007 Laminin compensation in collagen alpha3(IV) knockout (Alport) glomeruli contributes to permeability defects J Am Soc Nephrol 18 2465 2472 1:CAS:528:DC%2BD2sXhtV2mur3F 17699809
2. BD Ackley JR Crew H Elamaa T Pihlajaniemi CJ Kuo JM Kramer 2001 The NC1/endostatin domain of Caenorhabditis elegans type XVIII collagen affects cell migration and axon guidance J Cell Biol 152 1219 1232 1:CAS:528: DC%2BD3MXit1egt70%3D 11257122
3. E Arikawa-Hirasawa H Watanabe H Takami JR Hassell Y Yamada 1999 Perlecan is essential for cartilage and cephalic development Nat Genet 23 354 358 1:CAS:528:DyaK1MXnt1GnsL4%3D 10545953
4. E Arikawa-Hirasawa WR Wilcox AH Le N Silverman P Govindraj JR Hassell Y Yamada 2001 Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene Nat Genet 27 431 434 1:CAS:528:DC%2BD3MXjtFShsLs%3D 11279527
5. E Arikawa-Hirasawa SG Rossi RL Rotundo Y Yamada 2002 Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice Nat Neurosci 5 119 123 1:CAS:528:DC%2BD38XhtFGmurk%3D 11802174
6. M Aumailley L Bruckner-Tuderman WG Carter R Deutzmann D Edgar P Ekblom J Engel E Engvall E Hohenester JC Jones HK Kleinman MP Marinkovich GR Martin U Mayer G Meneguzzi JH Miner K Miyazaki M Patarroyo M Paulsson V Quaranta JR Sanes T Sasaki K Sekiguchi LM Sorokin JF Talts K Tryggvason J Uitto I Virtanen K von der Mark UM Wewer Y Yamada PD Yurchenco 2005 A simplified laminin nomenclature Matrix Biol 24 326 332 1:CAS:528:DC%2BD2MXmvVGjtL8%3D 15979864
7. M Aumailley C Has L Tunggal L Bruckner-Tuderman 2006 Molecular basis of inherited skin-blistering disorders, and therapeutic implications Expert Rev Mol Med 8 1 21 17040578
8. D Aviezer D Hecht M Safran M Eisinger G David A Yayon 1994 Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis Cell 79 1005 1013 1:CAS:528: DyaK2MXislCgsb0%3D 7528102
9. BL Bader N Smyth S Nedbal N Miosge A Baranowsky S Mokkapati M Murshed R Nischt 2005 Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice Mol Cell Biol 25 6846 6856 1:CAS:528:DC%2BD2MXntVSgs7g%3D 16024816
10. C Baldeschi Y Gache A Rattenholl P Bouille O Danos JP Ortonne L Bruckner-Tuderman G Meneguzzi 2003 Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors Hum Mol Genet 12 1897 1905 1:CAS:528:DC%2BD3sXlslOjtrg%3D 12874109
11. JF Bateman RP Boot-Handford SR Lamande 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations Nat Rev Genet 10 173 183 1:CAS:528:DC%2BD1MXhvFGksr4%3D 19204719
12. B Beirowski M Weber O Gross 2006 Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy J Am Soc Nephrol 17 1986 1994 1:CAS:528:DC%2BD28Xntlanu74%3D 16775036
13. E Bengtsson M Morgelin T Sasaki R Timpl D Heinegard A Aspberg 2002 The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor J Biol Chem 277 15061 15068 1:CAS:528: DC%2BD38XjslSgt7c%3D 11847210
14. DB Borza O Bondar P Todd M Sundaramoorthy Y Sado Y Ninomiya BG Hudson 2002 Quaternary organization of the Goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains J Biol Chem 277 40075 40083 1:CAS:528:DC%2BD38XnvVehtr8%3D 12193605
15. DB Borza O Bondar S Colon P Todd Y Sado EG Neilson BG Hudson 2005 Goodpasture autoantibodies unmask cryptic epitopes by selectively dissociating autoantigen complexes lacking structural reinforcement: novel mechanisms for immune privilege and autoimmune pathogenesis J Biol Chem 280 27147 27154 1:CAS:528:DC%2BD2MXmt1GgtL8%3D 15917228
16. K Bose R Nischt A Page BL Bader M Paulsson N Smyth 2006 Loss of nidogen-1 and -2 results in syndactyly and changes in limb development J Biol Chem 281 39620 39629 17023412
17. D Brainwood C Kashtan MC Gubler AN Turner 1998 Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation Kidney Int 53 762 766 1:CAS:528:DyaK1cXhs1Sisbg%3D 9507224
18. G Breedveld IF de Coo MH Lequin WF Arts P Heutink DB Gould SW John B Oostra GM Mancini 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly J Med Genet 43 490 495 1:CAS:528: DC%2BD28XmvVKksLY%3D 16107487
19. L Bruckner-Tuderman 2009 Can type VII collagen injections cure dystrophic epidermolysis bullosa? Mol Ther 17 6 7 1:CAS:528:DC%2BD1MXmtlag 19116634
20. M Chen MP Marinkovich A Veis X Cai CN Rao EA O'Toole DT Woodley 1997 Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin J Biol Chem 272 14516 14522 1:CAS:528:DyaK2sXjslagsb4%3D 9169408
21. M Chen DR Keene FK Costa SH Tahk DT Woodley 2001 The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies J Biol Chem 276 21649 21655 1:CAS:528:DC%2BD3MXksFGks74%3D 11274208
22. T Chino K Tamai T Yamazaki S Otsuru Y Kikuchi K Nimura M Endo M Nagai J Uitto Y Kitajima Y Kaneda 2008 Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance Am J Pathol 173 803 814 1:CAS:528:DC%2BD1cXhtFCitL7J 18688022
23. HJ Choi BH Lee JH Kang HJ Jeong KC Moon IS Ha YS Yu V Matejas M Zenker Y Choi HI Cheong 2008 Variable phenotype of Pierson syndrome Pediatr Nephrol 23 995 1000 18278520
24. H Colognato PD Yurchenco 1999 The laminin alpha2 expressed by dystrophic dy(2J) mice is defective in its ability to form polymers Curr Biol 9 1327 1330 1:CAS:528:DyaK1MXns1Grs7w%3D 10574769
25. WD Comper EF Glasgow 1995 Charge selectivity in kidney ultrafiltration Kidney Int 47 1242 1251 1:STN:280:DyaK2MzmsValsg%3D%3D 7637253
26. M Costell E Gustafsson A Aszodi M Morgelin W Bloch E Hunziker K Addicks R Timpl R Fassler 1999 Perlecan maintains the integrity of cartilage and some basement membranes J Cell Biol 147 1109 1122 1:CAS:528:DyaK1MXnslOjsbg%3D 10579729
27. LS de Vries C Koopman F Groenendaal M Van Schooneveld FW Verheijen E Verbeek TD Witkamp HB van der Worp G Mancini 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage Ann Neurol 65 12 18 19194877
28. JA Dominov AJ Kravetz M Ardelt CA Kostek ML Beermann JB Miller 2005 Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice Hum Mol Genet 14 1029 1040 1:CAS:528:DC%2BD2MXjtlensr0%3D 15757977
29. EJ Duh YG Yao M Dagli MF Goldberg 2004 Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye Ophthalmology 111 1885 1888 15465551
30. Durbeej M (2009) Laminins. Cell Tissue Res (this issue)
31. A Echaniz-Laguna F Rene C Marcel M Bangratz B Fontaine JP Loeffler S Nicole 2009 Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin Muscle Nerve 40 55 61 19367640
32. L Eklund J Piuhola J Komulainen R Sormunen C Ongvarrasopone R Fassler A Muona M Ilves H Ruskoaho TE Takala T Pihlajaniemi 2001 Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice Proc Natl Acad Sci USA 98 1194 1199 1:CAS:528:DC%2BD3MXht1Smt7w%3D 11158616
33. H Elamaa R Sormunen M Rehn R Soininen T Pihlajaniemi 2005 Endostatin overexpression specifically in the lens and skin leads to cataract and ultrastructural alterations in basement membranes Am J Pathol 166 221 229 1:CAS:528:DC%2BD2MXnt1eqtg%3D%3D 15632014
34. J Favor CJ Gloeckner D Janik M Klempt A Neuhauser-Klaus W Pretsch W Schmahl L Quintanilla-Fend 2007 Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles Genetics 175 725 736 1:CAS:528:DC%2BD2sXkt1Wgtro%3D 17179069
35. JD Fine RA Eady EA Bauer JW Bauer L Bruckner-Tuderman A Heagerty H Hintner A Hovnanian MF Jonkman I Leigh JA McGrath JE Mellerio DF Murrell H Shimizu J Uitto A Vahlquist D Woodley G Zambruno 2008 The classification of inherited epidermolysis bullosa (EB). Report of the Third International Consensus Meeting on Diagnosis and Classification of EB J Am Acad Dermatol 58 931 950 18374450
36. MA Fox JR Sanes DB Borza VP Eswarakumar R Fassler BG Hudson SW John Y Ninomiya V Pedchenko SL Pfaff MN Rheault Y Sado Y Segal MJ Werle H Umemori 2007 Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals Cell 129 179 193 1:CAS:528:DC%2BD2sXkvVeltb8%3D 17418794
37. CW Franzke K Tasanen H Schacke Z Zhou K Tryggvason C Mauch P Zigrino S Sunnarborg DC Lee F Fahrenholz L Bruckner-Tuderman 2002 Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs EMBO J 21 5026 5035 1:CAS:528:DC%2BD38Xns1Cmtrw%3D 12356719
38. CW Franzke P Bruckner L Bruckner-Tuderman 2005 Collagenous transmembrane proteins: recent insights into biology and pathology J Biol Chem 280 4005 4008 1:CAS:528:DC%2BD2MXhtVynt7Y%3D 15561712
39. Franzke CW, Bruckner-Tuderman L, Blobel CP (2009) Shedding of collagen XVII/BP180 in skin depends on both ADAM10 and ADAM9. J Biol Chem (in press)
40. A Fritsch S Loeckermann JS Kern A Braun MR Bosl TA Bley H Schumann D von Elverfeldt D Paul M Erlacher D Berens von Rautenfeld I Hausser R Fassler L Bruckner-Tuderman 2008 A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy J Clin Invest 118 1669 1679 1:CAS:528:DC%2BD1cXlsF2ntLw%3D 18382769
41. N Fukai L Eklund AG Marneros SP Oh DR Keene L Tamarkin M Niemela M Ilves E Li T Pihlajaniemi BR Olsen 2002 Lack of collagen XVIII/endostatin results in eye abnormalities EMBO J 21 1535 1544 1:CAS:528:DC%2BD38XjtVOgtr8%3D 11927538
42. L Gagnoux-Palacios M Allegra F Spirito O Pommeret C Romero JP Ortonne G Meneguzzi 2001 The short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesion J Cell Biol 153 835 850 1:CAS:528:DC%2BD3MXjs1Wgsbs%3D 11352943
43. M Gerl K Mann M Aumailley R Timpl 1991 Localization of a major nidogen-binding site to domain III of laminin B2 chain Eur J Biochem 202 167 174 1:CAS:528:DyaK38XisFSi 1935973
44. M Girgenrath JA Dominov CA Kostek JB Miller 2004 Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy J Clin Invest 114 1635 1639 1:CAS:528:DC%2BD2cXhtVKhur3J 15578095
45. S Goldberg SJ Harvey J Cunningham K Tryggvason JH Miner 2009 Glomerular filtration is normal in the absence of both agrin and perlecan-heparan sulfate from the glomerular basement membrane Nephrol Dial Transplant 24 2044 2051 1:CAS:528:DC%2BD1MXnslKjsbw%3D 19144998
46. Gordon M, Hahn R (2009) Collagens. Cell Tissue Res (this issue)
47. DB Gould FC Phalan GJ Breedveld SE van Mil RS Smith JC Schimenti U Aguglia MS van der Knaap P Heutink SW John 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly Science 308 1167 1171 1:CAS:528:DC%2BD2MXkt1Slsbs%3D 15905400
48. DB Gould FC Phalan SE van Mil JP Sundberg K Vahedi P Massin MG Bousser P Heutink JH Miner E Tournier-Lasserve SW John 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke N Engl J Med 354 1489 1496 1:CAS:528: DC%2BD28XjtFWgsLY%3D 16598045
49. DB Gould JK Marchant OV Savinova RS Smith SW John 2007 Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis Hum Mol Genet 16 798 807 1:CAS:528:DC%2BD2sXmsVWntr4%3D 17317786
50. O Gross B Beirowski SJ Harvey C McFadden D Chen S Tam PS Thorner N Smyth K Addicks W Bloch Y Ninomiya Y Sado M Weber WF Vogel 2004 DDR1-deficient mice show localized subepithelial GBM thickening with focal loss of slit diaphragms and proteinuria Kidney Int 66 102 111 1:CAS:528:DC%2BD2cXmtVSisbg%3D 15200417
51. O Gross DB Borza HJ Anders C Licht M Weber S Segerer R Torra MC Gubler L Heidet S Harvey D Cosgrove G Lees C Kashtan M Gregory J Savige J Ding P Thorner DR Abrahamson C Antignac K Tryggvason B Hudson JH Miner 2009 Stem cell therapy for Alport syndrome: the hope beyond the hype Nephrol Dial Transplant 24 731 734 1:CAS:528:DC%2BD1MXisVSlt7k%3D 19110486
52. MC Gubler 2008 Inherited diseases of the glomerular basement membrane Nat Clin Pract Nephrol 4 24 37 1:CAS:528:DC%2BD1cXltlKj 18094725
53. TE Hall RJ Bryson-Richardson S Berger AS Jacoby NJ Cole GE Hollway J Berger PD Currie 2007 The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy Proc Natl Acad Sci USA 104 7092 7097 1:CAS:528:DC%2BD2sXls1Krtb4%3D 17438294
54. SM Hammond 2006 MicroRNAs as oncogenes Curr Opin Genet Dev 16 4 9 1:CAS:528:DC%2BD28XlvVOhsA%3D%3D 16361094
55. SJ Harvey J Perry K Zheng D Chen Y Sado B Jefferson Y Ninomiya R Jacobs BG Hudson PS Thorner 2006 Sequential expression of type IV collagen networks: testis as a model and relevance to spermatogenesis Am J Pathol 168 1587 1597 1:CAS:528:DC%2BD28XkvF2nt7c%3D 16651625
56. SJ Harvey G Jarad J Cunningham AL Rops J van der Vlag JH Berden MJ Moeller LB Holzman RW Burgess JH Miner 2007 Disruption of glomerular basement membrane charge through podocyte-specific mutation of agrin does not alter glomerular permselectivity Am J Pathol 171 139 152 1:CAS:528: DC%2BD2sXosVals7w%3D 17591961
57. K Hasselbacher RC Wiggins V Matejas BG Hinkes B Mucha BE Hoskins F Ozaltin G Nurnberg C Becker D Hangan M Pohl E Kuwertz-Broking M Griebel V Schumacher B Royer-Pokora A Bakkaloglu P Nurnberg M Zenker F Hildebrandt 2006 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders Kidney Int 70 1008 1012 1:CAS:528: DC%2BD28XptFClsro%3D 16912710
58. L Heidet K Dahan J Zhou Z Xu P Cochat JD Gould KA Leppig W Proesmans C Guyot M Guillot, et al. 1995 Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours Hum Mol Genet 4 99 108 1:CAS:528:DyaK2MXjt1Ortbc%3D 7711741
59. S Heinonen M Mannikko JF Klement D Whitaker-Menezes GF Murphy J Uitto 1999 Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa J Cell Sci 112 3641 3648 1:CAS:528:DyaK1MXns1OlsLY%3D 10523500
60. A Helbling-Leclerc X Zhang H Topaloglu C Cruaud F Tesson J Weissenbach FM Tome K Schwartz M Fardeau K Tryggvason, et al. 1995 Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy Nat Genet 11 216 218 1:CAS:528:DyaK2MXosF2rt7s%3D 7550355
61. MS Ho K Bose S Mokkapati R Nischt N Smyth 2008 Nidogens-extracellular matrix linker molecules Microsc Res Tech 71 387 395 1:CAS:528: DC%2BD1cXmvVSntbw%3D 18219668
62. M Hopf W Gohring E Kohfeldt Y Yamada R Timpl 1999 Recombinant domain IV of perlecan binds to nidogens, laminin-nidogen complex, fibronectin, fibulin-2 and heparin Eur J Biochem 259 917 925 1:CAS:528:DyaK1MXhsFegsrs%3D 10092882
63. SB Hopkinson JC Jones 2000 The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome Mol Biol Cell 11 277 286 1:CAS:528:DC%2BD3cXosFyisQ%3D%3D 10637308
64. BG Hudson K Tryggvason M Sundaramoorthy EG Neilson 2003 Alport's syndrome, Goodpasture's syndrome, and type IV collagen N Engl J Med 348 2543 2556 1:CAS:528:DC%2BD3sXks12qtrc%3D 12815141
65. M Hurskainen L Eklund PO Hagg M Fruttiger R Sormunen M Ilves T Pihlajaniemi 2005 Abnormal maturation of the retinal vasculature in type XVIII collagen/endostatin deficient mice and changes in retinal glial cells due to lack of collagen types XV and XVIII FASEB J 19 1564 1566 1:CAS:528: DC%2BD2MXpvF2gtbc%3D 15976268
66. RV Iozzo 2005 Basement membrane proteoglycans: from cellar to ceiling Nat Rev Mol Cell Biol 6 646 656 1:CAS:528:DC%2BD2MXmvVGht74%3D 16064139
67. G Jarad J Cunningham AS Shaw JH Miner 2006 Proteinuria precedes podocyte abnormalities in Lamb2-/- mice, implicating the glomerular basement membrane as an albumin barrier J Clin Invest 116 2272 2279 1:CAS:528:DC%2BD28XnvF2mtLw%3D 16886065
68. C Jimenez-Mallebrera SC Brown CA Sewry F Muntoni 2005 Congenital muscular dystrophy: molecular and cellular aspects Cell Mol Life Sci 62 809 823 1:CAS:528:DC%2BD2MXmvVyks70%3D 15868406 (Pubitemid 40655631)
69. R Kalluri CF Shield P Todd BG Hudson EG Neilson 1997 Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis J Clin Invest 99 2470 2478 1:CAS:528:DyaK2sXjsVGqt78%3D 9153291
70. R Kalluri LG Cantley D Kerjaschki EG Neilson 2000 Reactive oxygen species expose cryptic epitopes associated with autoimmune Goodpasture syndrome J Biol Chem 275 20027 20032 1:CAS:528:DC%2BD3cXkslahu70%3D 10748075
71. SH Kang JM Kramer 2000 Nidogen is nonessential and not required for normal type IV collagen localization in Caenorhabditis elegans Mol Biol Cell 11 3911 3923 1:CAS:528:DC%2BD3cXotFOjs7o%3D 11071916
72. JS Kang XP Wang JH Miner R Morello Y Sado DR Abrahamson DB Borza 2006 Loss of alpha3/alpha4(IV) collagen from the glomerular basement membrane induces a strain-dependent isoform switch to alpha5alpha6(IV) collagen associated with longer renal survival in Col4a3-/- Alport mice J Am Soc Nephrol 17 1962 1969 1:CAS:528:DC%2BD28Xntlanurk%3D 16769745
73. JS Kang CE Kashtan AN Turner L Heidet BG Hudson DB Borza 2007 The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked Alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain J Biol Chem 282 10670 10677 1:CAS:528:DC%2BD2sXjs1Shs74%3D 17293596
74. YS Kanwar A Linker MG Farquhar 1980 Increased permeability of the glomerular basement membrane to ferritin after removal of glycosaminoglycans (heparan sulfate) by enzyme digestion J Cell Biol 86 688 693 1:CAS:528:DyaL3cXmtFyms7w%3D 6447156
75. K Katayama M Kawano I Naito H Ishikawa Y Sado N Asakawa T Murata K Oosugi M Kiyohara E Ishikawa M Ito S Nomura 2008 Irradiation prolongs survival of Alport mice J Am Soc Nephrol 19 1692 1700 1:CAS:528:DC%2BD1cXhtFensrvN 18480315
76. JS Kern C Has 2008 Update on diagnosis and therapy of inherited epidermolysis bullosa Exp Rev Dermatol 3 721 733
77. Kern JS, Loeckermann S, Fritsch A, Hausser I, Roth W, Magin TM, Mack C, Muller ML, Paul O, Ruther P, Bruckner-Tuderman L (2009) Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol Ther (in press)
78. S Khaliq A Abid DR White CA Johnson M Ismail A Khan Q Ayub S Sultana ER Maher SQ Mehdi 2007 Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2 Am J Med Genet 143A 2768 2774 1:CAS:528: DC%2BD1cXitVyntA%3D%3D 17975799
79. J Khoshnoodi JP Cartailler K Alvares A Veis BG Hudson 2006 Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers J Biol Chem 281 38117 38121 1:CAS:528:DC%2BD28Xht12nu7nP 17082192
80. J Khoshnoodi V Pedchenko BG Hudson 2008 Mammalian collagen IV Microsc Res Tech 71 357 370 1:CAS:528:DC%2BD1cXmvVSntLc%3D 18219669
81. Y Kikkawa JH Miner 2006 Molecular dissection of laminin alpha 5 in vivo reveals separable domain-specific roles in embryonic development and kidney function Dev Biol 296 265 277 1:CAS:528:DC%2BD28XntV2ls78%3D 16750824
82. S Kim WG Wadsworth 2000 Positioning of longitudinal nerves in C. elegans by nidogen Science 288 150 154 1:CAS:528:DC%2BD3cXisVGku70%3D 10753123
83. J Koster D Geerts B Favre L Borradori A Sonnenberg 2003 Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly J Cell Sci 116 387 399 1:CAS:528: DC%2BD3sXpvVKmtg%3D%3D 12482924
84. AJ Kvist AE Johnson M Morgelin E Gustafsson E Bengtsson K Lindblom A Aszodi R Fassler T Sasaki R Timpl A Aspberg 2006 Chondroitin sulfate perlecan enhances collagen fibril formation. Implications for perlecan chondrodysplasias J Biol Chem 281 33127 33139 1:CAS:528:DC%2BD28XhtFegsLfM 16956876
85. B Leitinger E Hohenester 2007 Mammalian collagen receptors Matrix Biol 26 146 155 1:CAS:528:DC%2BD2sXjt1SksLY%3D 17141492
86. Q Li BR Olsen 2004 Increased angiogenic response in aortic explants of collagen XVIII/endostatin-null mice Am J Pathol 165 415 424 1:CAS:528: DC%2BD2cXmvFSqu7o%3D 15277216
87. RT Libby CR Lavallee GW Balkema WJ Brunken DD Hunter 1999 Disruption of laminin beta2 chain production causes alterations in morphology and function in the CNS J Neurosci 19 9399 9411 1:CAS:528:DyaK1MXnslyitbg%3D 10531444
88. C Liu J Nathans 2008 An essential role for frizzled 5 in mammalian ocular development Development 135 3567 3576 1:CAS:528:DC%2BD1cXhsVyqur7F 18832390
89. E Marcocci V Uliana M Bruttini R Artuso MC Silengo M Zerial F Bergesio A Amoroso S Savoldi M Pennesi D Giachino G Rombola GB Fogazzi C Rosatelli CD Martinhago M Carmellini R Mancini G Di Costanzo I Longo A Renieri F Mari 2009 Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome Nephrol Dial Transplant 24 1464 1471 1:CAS:528: DC%2BD1MXkvFKjtr0%3D 19129241
90. AG Marneros BR Olsen 2005 Physiological role of collagen XVIII and endostatin FASEB J 19 716 728 1:CAS:528:DC%2BD2MXktVKrsL4%3D 15857886
91. AG Marneros DR Keene U Hansen N Fukai K Moulton PL Goletz G Moiseyev BS Pawlyk W Halfter S Dong M Shibata T Li RK Crouch P Bruckner BR Olsen 2004 Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function EMBO J 23 89 99 1:CAS:528:DC%2BD2cXhtVeqtL4%3D 14685281
92. AG Marneros H She H Zambarakji H Hashizume EJ Connolly I Kim ES Gragoudas JW Miller BR Olsen 2007 Endogenous endostatin inhibits choroidal neovascularization FASEB J 21 3809 3818 1:CAS:528:DC%2BD2sXhsVahtb3M 17526870
93. RA Maselli JJ Ng JA Anderson O Cagney J Arredondo C Williams HB Wessel H Abdel-Hamid RL Wollmann 2009 Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome J Med Genet 46 203 208 1:CAS:528:DC%2BD1MXktlKktbg%3D 19251977
94. F Mavilio G Pellegrini S Ferrari F Di Nunzio E Di Iorio A Recchia G Maruggi G Ferrari E Provasi C Bonini S Capurro A Conti C Magnoni A Giannetti M De Luca 2006 Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells Nat Med 12 1397 1402 1:CAS:528:DC%2BD28Xht1OntbnI 17115047
95. U Mayer R Nischt E Poschl K Mann K Fukuda M Gerl Y Yamada R Timpl 1993 A single EGF-like motif of laminin is responsible for high affinity nidogen binding EMBO J 12 1879 1885 1:CAS:528:DyaK3sXksVeltLk%3D 8491180
96. JA McGrath B Gatalica AM Christiano K Li K Owaribe JR McMillan RA Eady J Uitto 1995 Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa Nat Genet 11 83 86 1:CAS:528:DyaK2MXnvFelsLc%3D 7550320
97. WH McLean AD Irvine KJ Hamill NV Whittock CM Coleman-Campbell JE Mellerio GS Ashton PJ Dopping-Hepenstal RA Eady T Jamil RJ Phillips SG Shabbir TS Haroon K Khurshid JE Moore B Page J Darling DJ Atherton MA Van Steensel CS Munro FJ Smith JA McGrath 2003 An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho- cutaneous syndrome Hum Mol Genet 12 2395 2409 1:CAS:528:DC%2BD3sXntVCrurs%3D 12915477
98. S Meinen P Barzaghi S Lin H Lochmuller MA Ruegg 2007 Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages J Cell Biol 176 979 993 1:CAS:528: DC%2BD2sXjvVSnsbo%3D 17389231
99. O Menzel RC Bekkeheien A Reymond N Fukai E Boye G Kosztolanyi S Aftimos S Deutsch HS Scott BR Olsen SE Antonarakis M Guipponi 2004 Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Hum Mutat 23 77 84 1:CAS:528:DC%2BD2cXptlOisw%3D%3D 14695535
100. S Mihai C Sitaru 2007 Immunopathology and molecular diagnosis of autoimmune bullous diseases J Cell Mol Med 11 462 481 1:CAS:528: DC%2BD2sXpvVKjsb4%3D 17521373
101. JH Miner 2008 Laminins and their roles in mammals Microsc Res Tech 71 349 356 1:CAS:528:DC%2BD1cXmvVSntLY%3D 18219670
102. JH Miner C Li 2000 Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane Dev Biol 217 278 289 1:CAS:528:DC%2BD3cXhs1Wkuw%3D%3D 10625553
103. JH Miner C Li JL Mudd G Go AE Sutherland 2004 Compositional and structural requirements for laminin and basement membranes during mouse embryo implantation and gastrulation Development 131 2247 2256 1:CAS:528: DC%2BD2cXltlGrtr0%3D 15102706
104. JH Miner G Go J Cunningham BL Patton G Jarad 2006 Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome Development 133 967 975 1:CAS:528:DC%2BD28XjtlKns74%3D 16452099
105. S Mokkapati A Baranowsky N Mirancea N Smyth D Breitkreutz R Nischt 2008 Basement membranes in skin are differently affected by lack of nidogen 1 and 2 J Invest Dermatol 128 2259 2267 1:CAS:528:DC%2BD1cXpslWgtLk%3D 18356808
106. J Moll P Barzaghi S Lin G Bezakova H Lochmuller E Engvall U Muller MA Ruegg 2001 An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy Nature 413 302 307 1:CAS:528:DC%2BD3MXnt1KitLk%3D 11565031
107. M Mongiat K Taylor J Otto S Aho J Uitto JM Whitelock RV Iozzo 2000 The protein core of the proteoglycan perlecan binds specifically to fibroblast growth factor-7 J Biol Chem 275 7095 7100 1:CAS:528:DC%2BD3cXhvVGkur8%3D 10702276
108. H Morita A Yoshimura K Inui T Ideura H Watanabe L Wang R Soininen K Tryggvason 2005 Heparan sulfate of perlecan is involved in glomerular filtration J Am Soc Nephrol 16 1703 1710 1:CAS:528:DC%2BD2MXls1eiu7g%3D 15872080
109. TM Mundel R Kalluri 2007 Type IV collagen-derived angiogenesis inhibitors Microvasc Res 74 85 89 1:CAS:528:DC%2BD2sXht1ykur7F 17602710
110. M Murshed N Smyth N Miosge J Karolat T Krieg M Paulsson R Nischt 2000 The absence of nidogen 1 does not affect murine basement membrane formation Mol Cell Biol 20 7007 7012 1:CAS:528:DC%2BD3cXmsVamsbo%3D 10958695
111. BD Myers TB Okarma S Friedman C Bridges J Ross S Asseff WM Deen 1982 Mechanisms of proteinuria in human glomerulonephritis J Clin Invest 70 732 746 1:STN:280:DyaL3s%2FgslOitA%3D%3D 6181095
112. J Myllyharju KI Kivirikko 2004 Collagens, modifying enzymes and their mutations in humans, flies and worms Trends Genet 20 33 43 1:CAS:528: DC%2BD3sXpvFyrtr4%3D 14698617
113. A Nakano SC Chao L Pulkkinen D Murrell L Bruckner-Tuderman E Pfendner J Uitto 2002 Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes Hum Genet 110 41 51 1:CAS:528:DC%2BD38XjsValtQ%3D%3D 11810295
114. S Nicole CS Davoine H Topaloglu L Cattolico D Barral P Beighton CB Hamida H Hammouda C Cruaud PS White D Samson JA Urtizberea F Lehmann-Horn J Weissenbach F Hentati B Fontaine 2000 Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) Nat Genet 26 480 483 1:CAS:528:DC%2BD3cXptVWgt7w%3D 11101850
115. W Nishie D Sawamura M Goto K Ito A Shibaki JR McMillan K Sakai H Nakamura E Olasz KB Yancey M Akiyama H Shimizu 2007 Humanization of autoantigen Nat Med 13 378 383 1:CAS:528:DC%2BD2sXisVKkurY%3D 17322897
116. H Nishimune G Valdez G Jarad CL Moulson U Muller JH Miner JR Sanes 2008 Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction J Cell Biol 182 1201 1215 1:CAS:528:DC%2BD1cXhtFKnurjE 18794334
117. PG Noakes M Gautam J Mudd JR Sanes JP Merlie 1995 Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2 Nature 374 258 262 1:CAS:528:DyaK2MXktlOrs74%3D 7885444
118. PG Noakes JH Miner M Gautam JM Cunningham JR Sanes JP Merlie 1995 The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1 Nat Genet 10 400 406 1:STN:280:DyaK2MvgtVehsg%3D%3D 7670489
119. S Nonaka A Ishiko T Masunaga M Akiyama K Owaribe H Shimizu T Nishikawa 2000 The extracellular domain of BPAG2 has a loop structure in the carboxy terminal flexible tail in vivo J Invest Dermatol 115 889 892 1:CAS:528:DC%2BD3cXotlChsrk%3D 11069628
120. S Ortiz-Urda B Thyagarajan DR Keene Q Lin M Fang MP Calos PA Khavari 2002 Stable nonviral genetic correction of inherited human skin disease Nat Med 8 1166 1170 1:CAS:528:DC%2BD38XnsVGrtL4%3D 12244305
121. S Ortiz-Urda Q Lin CL Green DR Keene MP Marinkovich PA Khavari 2003 Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue J Clin Invest 111 251 255 1:CAS:528: DC%2BD3sXlsVGqsA%3D%3D 12531881
122. BL Patton 2003 Basal lamina and the organization of neuromuscular synapses J Neurocytol 32 883 903 1:CAS:528:DC%2BD2cXitlGksLo%3D 15034274
123. BL Patton AY Chiu JR Sanes 1998 Synaptic laminin prevents glial entry into the synaptic cleft Nature 393 698 701 1:CAS:528:DyaK1cXktVyrur0%3D 9641682
124. BL Patton JM Cunningham J Thyboll J Kortesmaa H Westerblad L Edstrom K Tryggvason JR Sanes 2001 Properly formed but improperly localized synaptic specializations in the absence of laminin alpha4 Nat Neurosci 4 597 604 1:CAS:528:DC%2BD3MXktFOqtrw%3D 11369940
125. BL Patton B Wang YS Tarumi KL Seburn RW Burgess 2008 A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination J Cell Sci 121 1593 1604 1:CAS:528:DC%2BD1cXotVyitbc%3D 18430779
126. Pihlajaniemi T, Soininen R (2009) Angiogenesis and the matrix. Cell Tissue Res (this issue)
127. E Plaisier O Gribouval S Alamowitch B Mougenot C Prost MC Verpont B Marro T Desmettre SY Cohen E Roullet M Dracon M Fardeau T Van Agtmael D Kerjaschki C Antignac P Ronco 2007 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps N Engl J Med 357 2687 2695 1:CAS:528: DC%2BD1cXisVOnsA%3D%3D 18160688
128. SM Pollard MJ Parsons M Kamei RN Kettleborough KA Thomas VN Pham MK Bae A Scott BM Weinstein DL Stemple 2006 Essential and overlapping roles for laminin alpha chains in notochord and blood vessel formation Dev Biol 289 64 76 1:CAS:528:DC%2BD2MXhtlaitrzE 16321372
129. E Poschl U Schlotzer-Schrehardt B Brachvogel K Saito Y Ninomiya U Mayer 2004 Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development Development 131 1619 1628 14998921
130. D Quelard E Lavergne I Hendaoui H Elamaa U Tiirola R Heljasvaara T Pihlajaniemi B Clement O Musso 2008 A cryptic frizzled module in cell surface collagen 18 inhibits Wnt/beta-catenin signaling PLoS ONE 3 e1878 18382662
131. A Rattenholl WN Pappano M Koch DR Keene KE Kadler T Sasaki R Timpl RE Burgeson DS Greenspan L Bruckner-Tuderman 2002 Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen J Biol Chem 277 26372 26378 1:CAS:528:DC%2BD38XlsFKrur4%3D 11986329
132. J Remington X Wang Y Hou H Zhou J Burnett T Muirhead J Uitto DR Keene DT Woodley M Chen 2009 Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa Mol Ther 17 26 33 1:CAS:528:DC%2BD1cXhtlyhur7O 19018253
133. MN Rheault SM Kren BK Thielen HA Mesa JT Crosson W Thomas Y Sado CE Kashtan Y Segal 2004 Mouse model of X-linked Alport syndrome J Am Soc Nephrol 15 1466 1474 15153557
134. KD Rodgers T Sasaki A Aszodi O Jacenko 2007 Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome Hum Mol Genet 16 515 528 1:CAS:528:DC%2BD2sXjslersbw%3D 17213231
135. M Rossi H Morita R Sormunen S Airenne M Kreivi L Wang N Fukai BR Olsen K Tryggvason R Soininen 2003 Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney EMBO J 22 236 245 1:CAS:528: DC%2BD3sXovFaqsA%3D%3D 12514129
136. P Rousselle GP Lunstrum DR Keene RE Burgeson 1991 Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments J Cell Biol 114 567 576 1:CAS:528:DyaK3MXks12gsLg%3D 1860885
137. P Rousselle DR Keene F Ruggiero MF Champliaud M Rest RE Burgeson 1997 Laminin 5 binds the NC-1 domain of type VII collagen J Cell Biol 138 719 728 1:CAS:528:DyaK2sXltlKhs7k%3D 9245798
138. YM Ruigrok GJ Rinkel R van't Slot M Wolfs S Tang C Wijmenga 2006 Evidence in favor of the contribution of genes involved in the maintenance of the extracellular matrix of the arterial wall to the development of intracranial aneurysms Hum Mol Genet 15 3361 3368 1:CAS:528:DC%2BD28XhtFKlsbnO 17038484
139. JR Sanes 2003 The basement membrane/basal lamina of skeletal muscle J Biol Chem 278 12601 12604 1:CAS:528:DC%2BD3sXislGrsrs%3D 12556454
140. T Sasaki H Larsson D Tisi L Claesson-Welsh E Hohenester R Timpl 2000 Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity J Mol Biol 301 1179 1190 1:CAS:528:DC%2BD3cXmtVKls78%3D 10966814
141. T Sasaki W Gohring K Mann C Brakebusch Y Yamada R Fassler R Timpl 2001 Short arm region of laminin-5 gamma2 chain: structure, mechanism of processing and binding to heparin and proteins J Mol Biol 314 751 763 1:CAS:528: DC%2BD3MXosl2isrw%3D 11733994
142. Schäfer L, Schäfer R (2009) Proteoglycans. Cell Tissue Res (this issue)
143. CS Seitz GJ Giudice SD Balding MP Marinkovich PA Khavari 1999 BP180 gene delivery in junctional epidermolysis bullosa Gene Ther 6 42 47 1:CAS:528:DyaK1MXltFWmug%3D%3D 10341874
144. AL Sertie V Sossi AA Camargo M Zatz C Brahe MR Passos-Bueno 2000 Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome) Hum Mol Genet 9 2051 2058 1:CAS:528: DC%2BD3cXmtVems7o%3D 10942434
145. Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, Knaap M van der, Jardine P (2009) A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Eur J Paediatr Neurol (in press)
146. MB Shannon BL Patton SJ Harvey JH Miner 2006 A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease J Am Soc Nephrol 17 1913 1922 1:CAS:528:DC%2BD28Xntlanurw%3D 16790509
147. B Sharma M Handler I Eichstetter JM Whitelock MA Nugent RV Iozzo 1998 Antisense targeting of perlecan blocks tumor growth and angiogenesis in vivo J Clin Invest 102 1599 1608 1:CAS:528:DyaK1cXmvVyns7g%3D 9788974
148. I Sibon I Coupry P Menegon JP Bouchet P Gorry I Burgelin P Calvas I Orignac V Dousset D Lacombe JM Orgogozo B Arveiler C Goizet 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke Ann Neurol 62 177 184 17696175
149. C Sitaru 2009 Bullous pemphigoid: a prototypical antibody-mediated organ-specific autoimmune disease J Invest Dermatol 129 822 824 1:CAS:528:DC%2BD1MXjs1Kitbo%3D 19322161
150. C Sitaru S Mihai C Otto MT Chiriac I Hausser B Dotterweich H Saito C Rose A Ishiko D Zillikens 2005 Induction of dermal-epidermal separation in mice by passive transfer of antibodies specific to type VII collagen J Clin Invest 115 870 878 1:CAS:528:DC%2BD2MXjtFyltr0%3D 15841176
151. N Smyth HS Vatansever P Murray M Meyer C Frie M Paulsson D Edgar 1999 Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation J Cell Biol 144 151 160 1:CAS:528:DyaK1MXjs1yhug%3D%3D 9885251
152. I Stalmans YS Ng R Rohan M Fruttiger A Bouche A Yuce H Fujisawa B Hermans M Shani S Jansen D Hicklin DJ Anderson T Gardiner HP Hammes L Moons M Dewerchin D Collen P Carmeliet PA D'Amore 2002 Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms J Clin Invest 109 327 336 1:CAS:528:DC%2BD38XhtV2isLs%3D 11827992
153. M Stum E Girard M Bangratz V Bernard M Herbin A Vignaud A Ferry CS Davoine A Echaniz-Laguna F Rene C Marcel J Molgo B Fontaine E Krejci S Nicole 2008 Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia Hum Mol Genet 17 3166 3179 1:CAS:528:DC%2BD1cXht1SitrrP 18647752
154. OT Suzuki AL Sertie VM Der Kaloustian F Kok M Carpenter J Murray AE Czeizel SE Kliemann S Rosemberg M Monteiro BR Olsen MR Passos-Bueno 2002 Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome Am J Hum Genet 71 1320 1329 1:CAS:528:DC%2BD3sXjsV2r 12415512
155. JT Tamsma J van den Born JA Bruijn KJ Assmann JJ Weening JH Berden J Wieslander E Schrama J Hermans JH Veerkamp, et al. 1994 Expression of glomerular extracellular matrix components in human diabetic nephropathy: decrease of heparan sulphate in the glomerular basement membrane Diabetologia 37 313 320 1:STN:280:DyaK2c3ivFChsg%3D%3D 8174847
156. K Tasanen M Floeth H Schumann L Bruckner-Tuderman 2000 Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain J Invest Dermatol 115 207 212 1:CAS:528:DC%2BD3cXlvFOlt7k%3D 10951237 (Pubitemid 30637189)
157. K Tasanen L Tunggal G Chometon L Bruckner-Tuderman M Aumailley 2004 Keratinocytes from patients lacking collagen XVII display a migratory phenotype Am J Pathol 164 2027 2038 1:CAS:528:DC%2BD2cXltFyms7c%3D 15161638
158. J Tolar A Ishida-Yamamoto M Riddle RT McElmurry M Osborn L Xia T Lund C Slattery J Uitto AM Christiano JE Wagner BR Blazar 2009 Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells Blood 113 1167 1174 1:CAS:528:DC%2BD1MXhvVajtr4%3D 18955559
159. PK Tran K Tran-Lundmark R Soininen K Tryggvason J Thyberg U Hedin 2004 Increased intimal hyperplasia and smooth muscle cell proliferation in transgenic mice with heparan sulfate-deficient perlecan Circ Res 94 550 558 1:CAS:528:DC%2BD2cXhsFOgu7w%3D 14739157
160. L Tunggal J Ravaux M Pesch H Smola T Krieg F Gaill T Sasaki R Timpl C Mauch M Aumailley 2002 Defective laminin 5 processing in cylindroma cells Am J Pathol 160 459 468 1:CAS:528:DC%2BD38XitVCks70%3D 11839566
161. A Utriainen R Sormunen M Kettunen LS Carvalhaes E Sajanti L Eklund R Kauppinen GT Kitten T Pihlajaniemi 2004 Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line Hum Mol Genet 13 2089 2099 1:CAS:528:DC%2BD2cXnsVyisr0%3D 15254016
162. K Vahedi M Boukobza P Massin DB Gould E Tournier-Lasserve MG Bousser 2007 Clinical and brain MRI follow-up study of a family with COL4A1 mutation Neurology 69 1564 1568 1:STN:280:DC%2BD2snhsVejtw%3D%3D 17938367
163. K Vahedi N Kubis M Boukobza M Arnoult P Massin E Tournier-Lasserve MG Bousser 2007 COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage Stroke 38 1461 1464 17379824
164. T Van Agtmael U Schlotzer-Schrehardt L McKie DG Brownstein AW Lee SH Cross Y Sado JJ Mullins E Poschl IJ Jackson 2005 Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy Hum Mol Genet 14 3161 3168 1:CAS:528:DC%2BD2MXhtFCjtL%2FP 16159887
165. MS van der Knaap LM Smit F Barkhof YA Pijnenburg S Zweegman HW Niessen S Imhof P Heutink 2006 Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 Ann Neurol 59 504 511 16374828
166. R Varki S Sadowski E Pfendner J Uitto 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants J Med Genet 43 641 652 1:CAS:528:DC%2BD28XpsFGhu7c%3D 16473856
167. D Villone A Fritsch M Koch L Bruckner-Tuderman U Hansen P Bruckner 2008 Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrils J Biol Chem 283 24506 24513 1:CAS:528:DC%2BD1cXhtVGktb3O 18599485
168. K Voskarides L Damianou V Neocleous I Zouvani S Christodoulidou V Hadjiconstantinou K Ioannou Y Athanasiou C Patsias E Alexopoulos A Pierides K Kyriacou C Deltas 2007 COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy J Am Soc Nephrol 18 3004 3016 1:CAS:528:DC%2BD2sXhtlGgsbnN 17942953
169. XP Wang AB Fogo S Colon G Giannico SR Abul-Ezz JH Miner DB Borza 2005 Distinct epitopes for anti-glomerular basement membrane Alport alloantibodies and Goodpasture autoantibodies within the noncollagenous domain of alpha3(IV) collagen: a Janus-faced antigen J Am Soc Nephrol 16 3563 3571 1:CAS:528:DC%2BD28XhvFWqtA%3D%3D 16236801
170. M Willem N Miosge W Halfter N Smyth I Jannetti E Burghart R Timpl U Mayer 2002 Specific ablation of the nidogen-binding site in the laminin gamma1 chain interferes with kidney and lung development Development 129 2711 2722 1:CAS:528:DC%2BD38XltVyhsbc%3D 12015298
171. TA Williams GR Kirkby D Williams JR Ainsworth 2008 A phenotypic variant of Knobloch syndrome Ophthalmic Genet 29 85 86 18484314
172. T Wong L Gammon L Liu JE Mellerio PJ Dopping-Hepenstal J Pacy G Elia R Jeffery IM Leigh H Navsaria JA McGrath 2008 Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa J Invest Dermatol 128 2179 2189 1:CAS:528:DC%2BD1cXpslWnsrc%3D 18385758
173. BP Woodall A Nystrom RA Iozzo JA Eble S Niland T Krieg B Eckes A Pozzi RV Iozzo 2008 Integrin alpha2beta1 is the required receptor for endorepellin angiostatic activity J Biol Chem 283 2335 2343 1:CAS:528:DC%2BD1cXnsFCksg%3D%3D 18024432
174. DT Woodley GG Krueger CM Jorgensen JA Fairley T Atha Y Huang L Chan DR Keene M Chen 2003 Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone J Invest Dermatol 121 1021 1028 1:CAS:528:DC%2BD3sXpsVCitbc%3D 14708601
175. DT Woodley J Remington M Chen 2007 Autoimmunity to type VII collagen: epidermolysis bullosa acquisita Clin Rev Allergy Immunol 33 78 84 1:CAS:528:DC%2BD1cXhslyjsLk%3D 18058258
176. E Wuhl J Kogan A Zurowska V Matejas RG Vandevoorde T Aigner O Wendler I Lesniewska R Bouvier A Reis J Weis P Cochat M Zenker 2007 Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome Am J Med Genet 143 311 319 17256789
177. H Xu P Christmas XR Wu UM Wewer E Engvall 1994 Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse Proc Natl Acad Sci USA 91 5572 5576 1:CAS:528:DyaK2cXksFGitL4%3D 8202529
178. H Xu XR Wu UM Wewer E Engvall 1994 Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene Nat Genet 8 297 302 1:CAS:528:DyaK2MXitVOgtbk%3D 7874173
179. J Xu D Rodriguez E Petitclerc JJ Kim M Hangai YS Moon GE Davis PC Brooks 2001 Proteolytic exposure of a cryptic site within collagen type IV is required for angiogenesis and tumor growth in vivo J Cell Biol 154 1069 1079 1:CAS:528:DC%2BD3MXms1Slu7c%3D 11535623
180. M Zenker T Aigner O Wendler T Tralau H Muntefering R Fenski S Pitz V Schumacher B Royer-Pokora E Wuhl P Cochat R Bouvier C Kraus K Mark H Madlon J Dotsch W Rascher I Maruniak-Chudek T Lennert LM Neumann A Reis 2004 Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities Hum Mol Genet 13 2625 2632 1:CAS:528: DC%2BD2cXovVOisLw%3D 15367484 (Pubitemid 39485411)
181. Z Zhou J Wang R Cao H Morita R Soininen KM Chan B Liu Y Cao K Tryggvason 2004 Impaired angiogenesis, delayed wound healing and retarded tumor growth in perlecan heparan sulfate-deficient mice Cancer Res 64 4699 4702 1:CAS:528:DC%2BD2cXls1Oms7g%3D 15256433
182. EP Zimina SC Hofmann A Fritsch JS Kern C Sitaru L Bruckner-Tuderman 2008 Bullous pemphigoid autoantibodies preferentially recognize phosphoepitopes in collagen XVII J Invest Dermatol 128 2736 2739 1:CAS:528:DC%2BD1cXht1CmsLjL 18548115
183. JJ Zoeller A McQuillan J Whitelock SY Ho RV Iozzo 2008 A central function for perlecan in skeletal muscle and cardiovascular development J Cell Biol 181 381 394 1:CAS:528:DC%2BD1cXltlWmt74%3D 18426981