Laminins and human disease

Microscopy Research and Technique

Volumn 51, Issue 3, 2000, Pages 262-279

  Mcgowan, Kelly Ann ^a   Marinkovich, M Peter ^a,b,c  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^c CCSR South   (United States)

Author keywords

Cicatricial pemphigoid; Disease; Epidermolysis bullosa; Laminin; Muscular dystrophy

Indexed keywords

ADHESION; ADHESIVES; GENE THERAPY; MUSCLE; PROTEINS;

CICATRICIAL PEMPHIGOID; EPIDERMOLYSIS; EPIDERMOLYSIS BULLOSA; EXPRESSION PATTERNS; HUMAN DISEASE; LAMININ; MUSCLE CELL; MUSCULAR DYSTROPHY; PROTEIN FAMILY; TISSUE EXPRESSION;

DISEASE CONTROL;

AUTOANTIBODY; GENE PRODUCT; ISOPROTEIN; LAMININ;

ALZHEIMER DISEASE; CELL HETEROGENEITY; CLINICAL FEATURE; EPIDERMOLYSIS BULLOSA; EXTRACELLULAR MATRIX; GENE MUTATION; GENE THERAPY; HUMAN; MUCOUS MEMBRANE PEMPHIGOID; MUSCULAR DYSTROPHY; NERVE REGENERATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW;

EID: 0034333020     PISSN: 1059910X     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0029(20001101)51:3<262::AID-JEMT6>3.0.CO;2-V     Document Type: Review

References (242)

1. Afifi A, Zellweger H, McCormick WF. 1969. Congenital muscular dystrophy: light and electron microscopic observations. J Neurol Neurosurg Psychiatry 32:273-280.
2. Ahn AH, Kunkel LM. 1993. The structural and functional diversity of dystrophin. Nat Genet 3:283-291.
3. Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggyason K, Campbell KP. 1997. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha 2-chain. Hum Mol Genet 6:747-752.
4. Amano S, Nishiyama T, Burgeson RE. 1999. A specific and sensitive ELISA for laminin 5. J Immunol Methods 224:161-169.
5. Amano S, Scott IC, Takahara K, Koch M, Gerecke DR, Keene DR, Hudson DC, Nishiyama T, Lee S, Greenspan DS, Burgeson RE. 2000. Bone morphogenetic protein-1 (BMP-1) is an extracellular processing enzyme of the laminin 5 gamma 2 chain. J Biol Chem (in press).
6. Anton ES, Sandrock AW, Matthew WD. 1994. Merosin promotes neurite outgrowth and Schwann cell migration in vitro and nerve regeneration in vivo: evidence using an antibody to merosin ARM-1. Dev Biol 164:133-146.
7. Anton-Lamprecht I, Schnyder UW. 1973. Epidermolysis bullosa dystrophica dominans. Ein Defekt der 'anchoring fibrils.' Dermatologica 147:289-298.
8. Anton-Lamprecht I, Schnyder UW. 1982. Epidermolysis bullosa herpetiformis Dowling-Meara: report of a case and pathogenesis. Dermatologica 164:221-235.
9. Arahata K, Hayashi YK, Koga R, Goto K, Lee JH, Miyagoe Y, Ishii H, Tsukahara T, Takeda S, Woo M, Nonaka I, Matsuzaki T, Sugita H. 1993. Laminin in animal models for muscular dystrophy: defect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Jpn Acad 693:259-264.
10. Bailey SB, Eichler ME, Villadiego A, Rich KM. 1993. The influence of fibronectin and laminin during Schwann cell migration and peripheral nerve regeneration through silicon chambers. J Neurocytol 22:176-184.
11. Baker SE, Hopkinson SB, Fitchmun M, Andreason GL, Fraiser F, Plopper G, Quaranta V, Jones JC. 1996. Laminin 5 and hemidesmosomes: role of the alpha 3 chain subunit in hemidesmosomal stability and assembly. J Cell Sci 109:2509-2520.
12. Balding SD, Prost C, Diaz LA, Bernard P, Bedane C, Aberdam D, Guidace GJ. 1996. Cicatricial pemphigoid autoantibodies with multiple sites on the BP180 extracellular domain. J Invest Derm. 106: 141-146.
13. Baron Van Evercooren A, Kleinman HK, Ohno S, Marangos P, Schwartz JP, Dubois-Dalq ME. 1982. Nerve growth factor, laminin, and fibronectin promote neurite outgrowth in human fetal sensory ganglia cultures. J Neurosci Res 8:179-192.
14. Baudoin C, Miquel C, Gagnoux-Palacois L, Pulkkinen L, Christiano AM, Uitto J, Tadini G, Ortonne JP, Meneguzzi G. 1994. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 3:1909-1910.
15. Bergston L. 1987. Cicatricial pemphigoid of the upper digestive and respiratory tract. Clin Dermatol 5:36-42.
16. Berson S, Ward RF, Lin AN, Carter DM. 1992. Junctional epidermolysis bullosa of the larynx: report of a case and literature review. Ann Otol Rhinol Laryngol 101:861-865.
17. Bonidas JM, Rothman AL, Epstein EH. 1991. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254:1202-1205.
18. Bradley WG, Jaros E. 1979. Involvement of peripheral and central nerves in murine dystrophy. Ann NY Acad Sci 317:132-142.
19. Brandenberger R, Kammerer RA, Engel J, Chiquet M. 1996. Native chick laminin-4 containing the beta 2 chain (s-laminin) promotes motor axon growth. J Cell Biol 135:1583-1592.
20. Bronfman FC, Garrido J, Alvarez A, Morgan C, Inestrosa NC. 1996a. Laminin inhibits amyloid-beta-peptide fibrillation. Neurosci Lett 218:201-203.
21. Bronfman FC, Soto C, Tapia L, Tapia V, Inestrosa NC. 1996b. Extracellular matrix regulates the amount of the beta-amyloid precursor protein and its amyloidogenic fragments. J Cell Physiol 166:360-369.
22. Burgeson RE, Chiquet M, Deutzmann R. 1994. A new nomenclature for the laminins. Matrix Biol 14:209-211.
23. Burgess RW, Nguyen QT, Son YJ, Lichtman JW, Sanes JR. 1999. Alternatively spliced forms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction. Neuron 23:33-44.
24. Campagna JA, Ruegg MA, Bixby JL. 1995. Agrin is a differentiation-inducing "stop-signal" for motorneurons in vitro. Neuron 15:1365-1374.
25. Campbell KP. 1995. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80:675-679.
26. Campbell KP, Kahl SD. 1989. Association of dystrophin and an integral membrane glycoprotein. Nature 338:259-262.
27. Carter WG, Kauer P, Gill SG, Gahr PJ, Wayner EA. 1990a. Distinct functions for integrins alpha 3 beta 1 in focal adhesions and alpha 6 beta 4/bullous pemphigoid antigen in new stable anchoring contacts (SACs) of keratinocytes: relation to hemidesmosomes. J Cell Biol 111:3141-3154.
28. Carter WG, Wayner EA, Bouchard TS, Kaur P. 1990b. The role of integrins alpha 2 beta 1 and alpha 3 beta 1 in cell-cell and cell-substrate adhesion of human epidermal cells. J Cell Biol 110:1387-1404.
29. Champliaud MF, Lunstrum GP, Rouselle P, Nishiyamo T, Keene DR, Burgeson RE. 1996. Human amnion contains a novel laminin variant laminin-7, which like laminin-6, covalently associates with laminin-5. J Cell Biol 132:1189-1198.
30. Chan LS, Majmudar AA, Tran HT, Meier F, Schaumburg-Lever G, Chen M, Anhalt G, Woodley DT, Marinkovich MP. 1997. Laminin-6 and laminin-5 are recognized by autoantibodies in a subset of cicatricial pemphigoid. J Invest Dermatol 108:848-853.
31. Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G. 1996. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 98:2196-2200.
32. Cho SI, Ko J, Patton BL, Sanes JR, Chiu AY. 1998. Motor neurons and Schwann cells distinguish between synaptic and extrasynaptic isoforms of laminin. J Neurobiol 37:339-358.
33. Christiano AM, Greenspan DS, Lee S, Uitto J. 1994. Cloning of human type VII collagen. Complete primary sequence of the α1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 269:20256-20262.
34. Christiano AM, Pulkkinen L, McGrath JA, Uitto J. 1997. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17:343-354.
35. Cohn RD, Herrmann R, Sorokin L, Wewer UM, Voit T. 1998. Laminin alpha 2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. Neurology 51:94-100.
36. 2J mice is defective in its ability to form polymers. Curr Biol 9:1327-1330.
37. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. 1991. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66: 1301-1311.
38. Crosbie RH, Heighway J, Venzke DP, Lee JC, Campbell KP. 1997. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J Biol Chem 272:31221-31224.
39. Dai Z, Peng HB. 1996. From neurite to nerve terminal: induction of presynaptic differentiation by target-derived signals. J Neurosci 15:5466-5475.
40. David A, Aguayo AJ. 1981. Axonal elongation into peripheral nervous system "bridges" after central nervous system injury in adult rats. Science 214:931-933.
41. Davies H, Atherton DJ. 1987. Acute laryngeal obstruction in junctional epidermolysis bullosa. Pediatr Dermatol 4:98-101.
42. Dellambra E, Vailly J, Pellegrini G, Bondanza S, Golisano O, Macchia C, Zambruno G, Meneguzzi G, De Luca M. 1998. Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa. Hum Gene Ther 9:1359-1370.
43. Deng H, Lin Q, Khavari PA. 1997. Sustainable cutaneous gene delivery. Nat Biotechnol 15:1388-1391.
44. Domloge-Hultsch N, Gammon WR, Briggaman RA, Gil SG, Carter WG, Yancey KB. 1992. Epiligrin, the major human integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering disease. J Clin Invest 90:1628-1633.
45. Donner M, Rapola J, Somer H. 1975. Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropaediatrie 6:239-258.
46. Drouet B, Pincon-Raymond M, Chambaz J, Pillot T. 1999. Laminin 1 attenuates beta-amyloid peptide Abeta (1-40) neurotoxicity of cultured fetal rat cortical neurons. J Neurochem 73:742-749.
47. Dubowitz V. 1996. 41st ENMC International Workshop on Congenital Muscular Dystrophy. Neuromusc Disord 6:295-306.
48. Durbeej M, Henry MD, Campbell KP. 1998. Dystroglycan in development and disease. Curr Opin Cell Biol 10:594-601.
49. Ehrig K, Leivo I, Argraves WS, Ruoslahti E, Engvall E. 1990. Merosin, a tissue-specific basement membrane protein, is a laminin-like protein. Proc Natl Acad Sci 87:3264-3268.
50. Elder MJ, Bernauer W, Leonard J, Dart JKG. 1996. Progression of disease in ocular cicatricial pemphigoid. Br J Ophthalmol 80:292-296.
51. Elias S, Esterly NB. 1981. Prenatal diagnosis of hereditary skin disorders. Clin Obstet Gynecol 24:1069-1087.
52. Elias S, Emerson DS, Simpson JL, Shulman LP, Holbrook KA. 1994. Ultrasound-guided fetal skin sampling for prenatal diagnosis of genodermatoses. Obstet Gynecol 83:337-341.
53. Engvall E, Wewer UM. 1996. The functions of laminins: lessons from in vivo studies: laminin α2 in muscular disease. Matrix Biol 15: 369-381.
54. Engvall E, Earwicker D, Haaparanta T, Ruoslahti E, Sanes JR. 1990. Distribution and isolation of four laminin variants: tissue restricted distribution of heterotrimers assembled from five different subunits. Cell Regul 1:731-740.
55. Engvall E, Earwicker D, Day A, Muir D, Manthorpe M, Paulsson M. 1992. Merosin promotes cell attachment and is a component of the neurite-promoting factor RN22 schwannoma cells. Exp Cell Res 198:115-123.
56. Ergun GE, Lin AN, Dannenberg AJ, Carter DM. 1992. Gastrointestinal manifestations of epidermolysis bullosa: a study of 101 patients. Medicine 71:121-127.
57. Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. 1990. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345:315-319.
58. Ervasti JM, Campbell KP. 1991. Membrane organization of the dystrophin-glycoprotein complex. Cell 66:1121-1131.
59. Ervasti JM, Campbell KP. 1993. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122:809-823.
60. Ervasti JM, Kahl SD, Campbell KP. 1991. Purification of dystrophin from skeletal muscle. J Biol Chem 266:9161-9165.
61. Fardeau M, Tome FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Faure S, Guicheney P, Hillaire D. 1996. Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis. Rev Neurol (Paris) 152:11-19.
62. Fawcett J. 1994. Astrocytes and axon regeneration in the central nervous system. J Neurol 242 (Suppl 1):S25-S28.
63. Fenjves ES. 1999. Gene therapy: principles and potential application in inherited epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: John Hopkins University Press, p 407-419.
64. Fine JD, Smith LT. 1999. Nonmolecular diagnostic testing of inherited epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: John Hopkins University Press, p 48-78.
65. Fine JD, Holbrook KA, Elias S, Anton-Lamprecht I, Rauskolb R. 1990. Applicability of 19-DEJ-1 monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenat Diagn 10:219-229.
66. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, Sybert VP. 1991. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol 24:119-135.
67. Fine JD, Bauer EA, McGuire J. 1999a. The treatment of inherited epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: John Hopkins University Press, p 374-406.
68. Fine JD, Johnson LB, Suchindran C, Bauer EA, Carter DM, McGuire J, Lin A Stern R, Nall L, Moshell A. 1999b. Cutaneous and skin-associated musculoskeletal manifestations of inherited epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: John Hopkins University Press, p 114-146.
69. Fine RM, Weathers DR. 1980. Desquamative gingivitis: a form of cicatricial pemphigoid? Br J Dermatol 102:393-399.
70. Foster CS. 1986. Cicatricial pemphigoid. Trans Am Ophthalmol Soc 84:527-663.
71. Frohener SC, Adams ME, Peters MF, Gee SH. 1997. Syntrophins: modular adapter proteins at the neuromuscular junction and the sarcolemma. Soc Gen Physiol Ser 52:197-207.
72. Fujimoto W, Ishida-Yamamoto A, Hsu R, Nagao Y, Iizuka H, Yancey KB, Arata J. 1998. Anti-epiligrin cicatricial pemphigoid: a case associated with gastric carcinoma and features resembling epidermolysis bullosa acquisita. Br J Dermatol 139:682-687.
73. Fujimoto W, Toi Y, Okazaki F, Lazarova Z, Yancey KB, Arata J. 1999. Anti-epiligrin cicatricial pemphigoid with IgG autoantibodies to the beta and gamma subunits of laminin 5. J Am Acad Dermatol 40:637-639.
74. Gagnoux-Palacios L, Vailly J, Durand-Clement M, Wagner E, Ortonne JP, Meneguzzi G. 1996. Functional re-expression of laminin-5 in laminin-gamma 2-deficient human keratinocytes modifies cell morphology, motility, and adhesion. J Biol Chem 271:18437-18444.
75. Gautam M, Noakes PG, Moscoso L, Rupp F, Scheller RH, Merlie JP, Sanes JR. 1996. Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 85:525-535.
76. Gee SH, Blacher RW, Douville PJ, Provost PR, Yurchenco PD, Carbonetto S. 1993. Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin. J Biol Chem 268:14972-14980.
77. Ghohestani RF, Nicolas JF, Rousselle P, Claudy AL. 1997. Diagnostic value of indirect immunofluorescence on sodium chloride-split skin in differential diagnosis of subepidermal autoimmune bullous dermatoses. Arch Dermatol 133:1102-1107.
78. Gianelli G, Falk-Marzilier J, Schiraldi O, Stetler-Stevenson WG Quaranta, V. 1997. Induction of cell migration my matrix metalloproteinse-2 (MMP-2) cleavage of laminin 5. Science 277:225-228.
79. Giardina PJ, Lin AN. 1992. Hematological problems in epidermolysis bullosa. In: Lin AN, Carter DM, editors. Epidermolysis bullosa: basic and clinical aspects. New York: Springer, p 191-197.
80. Gibson GE, Saoud MS, Pittelkow MR. 1997. Anti-epiligrin (laminin 5) cicatricial pemphigoid and lung carcinoma: coincidence or association? Br J Dermatol 137:780-782.
81. Glazier DB, Zaontz MR. 1998. Epidermolysis bullosa: a review of the associated urological complications. J Urol 159:2122-2125.
82. Glicksman MA, Sanes JR. 1983. Differentiation of motor nerve terminals formed in the absence of muscle fibers. J Neurocytol 12:661-671.
83. Gruis A, Bavinck JN, Steijlen PM, van der Schroeff JG, van Haeringen A, Happle R, Mariman E, van Beersum SEC, Uitto J, Vermeer BJ, Frants RR. 1992. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. J Invest Dermatol 99:528-530.
84. Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tome FM, Fardeau M, Tryggvason K. 1998. PCR based mutation screening of the laminin alpha 2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. J Med Genet 35:211-217.
85. Hallopeau MH. 1896. Nouvelle etude sur la dermatite bulleuse congenitale avec kysts epidermiques. Ann Dermatol Syphiligr (Paris) 7:453.
86. Haneke E, Anton-Lamprecht I. 1982. Ultrastructure of blister formation in epidermolysis bullosa heridatia. V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol 78: 219-223.
87. Heagerty AHM, Eady RAJ, Kennedy AR, Nicolaides KH, Rodeck CH, His BL, Ortonne JP. 1987. Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. Br J Dermatol 117:271-275.
88. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, Guicheney P. 1995. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11:216-218.
89. Herlitz G. 1935. Kongenitaler, nicht syphilitischer Pemphigus: Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform. Acta Paediatr 7:315.
90. Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. 1996. Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 155:968-976.
91. Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, Routon M, Mayer M, Pellissier J, Estournet B, Barois A, Hentati F, Feingold N, Beckmann JS, Dubowitz V, Tome FMS, Fardeau M. 1994. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3:1657-1661.
92. Hoffman E, Kunkel LM. 1989. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2:1019-1029.
93. Hoffman EP, Clemens PR. 1996. HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. Curr Opin Rheum 8:528-538.
94. Hoffman EP, Watkins SC, Slayter HS, Kunkel LM. 1989. Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin. J Cell Biol 108:503-510.
95. Holsclaw DS. 1998. Ocular cicatricial pemphigoid. Int Ophthalmol Clin 38:89-106.
96. Hopkins JM, Ford-Holevinski TS, McCoy JP, Agranoff BW. 1985. Laminin and optic nerve regeneration in the goldfish. J Neurosci 5:3030-3038.
97. Hovnanian A, Duquesnoy P, Blancet-Bardon C, Wechsler J, Amselem S, Lathrop M, Dubertret L, Uitto J, Goossens M. 1992. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest 90:1032-1036.
98. Hruby MA, Esterly NB. 1973. Anemia in epidermolysis bullosa lethalis. Am J Dis Child 5:189-196.
99. Hsi BL, Yeh CJ. 1986. Monoclonal antibodies to human amnion. J Reprod Immunol 9:11-21.
100. 4 autoantibodies predominate in patients with anti-epiligrin cicatricial pemphigoid. J Invest Dermatol 109:557-561.
101. Hunter DD, Porter BE, Bulock JW, Adams SP, Merlie JP, Sanes JR. 1989a. Primary sequence of a motor neuron-selective adhesive site in the synaptic basal lamina protein S-laminin. Cell 59:905-913.
102. Hunter DD, Shah V, Merlie JP, Sanes JR. 1989b. A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction. Nature 338:229-233.
103. Hunter DD, Cashman N, Morris-Valero R, Bulock JW, Adams SP, Sanes JR. 1991. An LRE (leucine-arginine-glutamate)-dependent mechanism for adhesion of neurons to S-laminin. J Neurosci 11: 3960-3971.
104. Hunter DD, Llinas T, Ard M, Merlie JP, Sanes JR. 1992. Expression of S-laminin and laminin in the developing rat central nervous system. J Comp Neurol 23:238-251.
105. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. 1992. Primary structure of the 43 K and 156 K dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355:696-702.
106. Iglesias LS, Quismorio FP, McDonell PJ, Barnes C. 1992. Ocular cicatricial pemphigoid in a twelve year old boy. Cornea 4:365-367.
107. Kauppila T, Jyvasjarvi E, Huopaniemi T, Hujanen E, Liesi P. 1993. A laminin graft replaces neurorrhaphy in the restorative surgery of the rat sciatic nerve. Exp Neurol 123:181-191.
108. Kirtschig G, Marinkovich MP, Burgeson RE, Yancey KB. 1995. Anti-basement membrane autoantibodies in patients with anti-epiligrin cicatricial pemphigoid bind the alpha-subunit of laminin 5. J Invest Dermatol 105:543-548.
109. Kittur SD, Endo H, Adler WH, Martin GR, Markesbery WR, Kleinman HK, Weeks BS. 1992. Alzheimer disease brain extract stimulates branching of laminin-mediated neuronal processes. Alzheimer Dis Assoc Disord 6:103-110.
110. Kivirriko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. 1996. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-237.
111. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517.
112. Koo EH, Park L, Selkoe DJ. 1993. Amyloid beta-protein as a substrate interacts with extracellular matrix to promote neurite outgrowth. Proc Natl Acad Sci USA 90:4748-4752.
113. Kuang W, Xu H, Vachon PH, Engvall E. 1998a. Disruption of the lama2 gene in embryonic stem cells: laminin α2 is necessary for sustenance of mature muscle cells. Exp Cell Res 241:117-125.
114. Kuang W, Xu H, Vachon PH, Liu L, Loechel F, Wewer UM, Engvall E. 1998b. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. J Clin Invest 102:844-852.
115. Kuang W, Xu H, Vilquin JT, Engvall E. 1999. Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha 2-deficiency. Lab Invest 79:1601-1613.
116. Kuffler DP. 1986. Accurate reinnervation of motor endplates after disruption of sheath cells and muscle fibers. J Comp Neurol 250: 773-776.
117. Kuhn TB, Schmidt MF, Kater SB. 1995. Laminin and fibronectin guideposts signal sustained but opposite effects to passing growth cones. Neuron 14:275-285.
118. Lampe PD, Nguyen BP, Gill S, Usui M, Olerud J, Takada Y, Carter WG. 1998. Cellular interactions of integrin alpha 3 beta 1 with laminin 5 promotes gap junctional communication. J Cell Biol 143: 1735-1747.
119. Lazarova Z, Yee C, Darline T, Briggaman RA, Yancey KB. 1996. Passive transfer of anti-laminin 5 antibodies induces subepidermal blisters in neonatal mice. J Clin Invest 98:1509-1518.
120. Lazarova Z, Hsu R, Yee C, Yancey KB. 1998. Antiepiligrin cicatricial pemphigoid represents an autoimmune response to subunits present in laminin 5 (α3β3g2) Br J Dermatol 139:791-797.
121. Lazarova Z, Hsu R, Yee C, Yancey KB. 2000. Human anti-laminin 5 autoantibodies induce subepidermal blisters in an experimental human skin graft model. J Invest Dermatol 114:178-184.
122. Leivo I, Engvall E. 1988. Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development. Proc Nat Acad Sci USA 85:1544-1548.
123. Lever WF. 1979. Pemphigus and pemphigoid. J Am Acad Dermatol 1:2.
124. Leverkus M, Schmidt E, Lazarova Z, Brocker E-B, Yancey KB, Zillikens D. 1999. Antiepiligrin cicatricial pemphigoid: an underdiagnosed entity within the spectrum of scarring autoimmune subepidermal bullous diseases? Arch Dermatol 135:1091-1098.
125. Liesi P. 1985. Laminin immunoreactive glial cells distinguish regenerative CNS systems from nonregenerative ones. EMBO J 4:2502-2511.
126. Lim LE, Campbell KP. 1998. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 11:443-452.
127. Lin AN, Carter DM. 1992. Junctional epidermolysis bullosa: a clinical overview. In: Lin AN, Carter DM, editors. Epidermolysis bullosa: basic and clinical aspects. New York: Springer, p 118-134.
128. Luckenbill-Edds L. 1997. Laminin and the mechanism of neuronal outgrowth. Brain Res Rev 23:1-27.
129. Madison R, da Silva CF, Dikkes P, Chiu TH, Sidman RL. 1985. Increased rate of peripheral nerve regeneration using bioresorbable nerve guides and a laminin-containing gel. Exp Neurol 88:767-772.
130. Manthorpe M, Engvall E, Ruoslahti E, Longo F, Davis G, Varon S. 1983. Laminin promotes neuritic regeneration from cultured peripheral and central neurons. J Cell Biol 97:772-777.
131. Marinkovich MP. 1999. Update on inherited bullous dermatoses. Dermatol Clin 17:473-485.
132. Marinkovich MP, Lunstrum DR, Burgeson RE. 1992a. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 267:17900-17906.
133. Marinkovich MP, Lunstrum DR, Keene DR, Burgeson RE. 1992b. The dermal-epidermal junction of human skin contains a novel laminin variant. J Cell Biol 119:695-703.
134. Marinkovich, MP Verrando P, Keene DR, Meneguzzi G, Lunstrum GP, Ortonne JP, Burgeson RE. 1993a.. The basement membrane proteins kalinin and nicein are structurally and immunologically identical. Lab Invest 69:295-299.
135. Marinkovich MP, Keene DR, Rimberg CL, Burgeson RE. 1993b. Cellular origin of the dermal-epidermal basement membrane. Dev Dyn 197:255-267.
136. Marinkovich MP, Meneguzzi G, Burgeson RE, Blanchet-Bardon C, Holbrook KA, Smith LT, Christiano AM, Ortonne JP. 1995. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. Prenatal Diagnosis 15:1027-1034.
137. Martin PT, Ettinger AJ, Sanes JR. 1995. Synaptic localization domain in the synaptic cleft protein laminin α2 (s-laminin). Science 269: 413-416.
138. Martini R. 1994. Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves. J Neurocytol 23:1-28.
139. Mattson MP. 1995. Untangling the pathophysiology of β-amyloid. Nat Struct Biol 2:926-928.
140. McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. 1995a. 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.
141. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. 1995b. Altered laminin 5 expression due to mutations in the gene encoding the β3 gene (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474.
142. McGrath JA, Christiano AM, Pulkkinen L, Eady RAJ, Uitto J. 1996. Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 106:1157-1159.
143. McGrath JA, Ashton GHS, Mellerio HE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RAJ. 1999. 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 Invest Dermatol 113:314-321.
144. McKee AC, Kosik KS, Kowall NW. 1991. Neuritic pathology and dementia in Alzheimer's disease. Ann Neurol 30:156-165.
145. McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J. 1996. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 10:1724-1735.
146. McMahan UJ. 1990. The agrin hypothesis. Cold Spring Harb Symp Quant Biol 55:407-418.
147. McMillan JR, McGrath JA, Pulkkinen L, Kon A, Burgeson RE, Ortonne JP, Meneguzzi G, Uitto J, Eady RA. 1997. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 136:817-822.
148. Meneguzzi G, Marinkovich MP, Aberdam D, Pisani A, Burgeson R, Ortonne JP. 1992. Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients. Exp Dermatol 1:221-219.
149. Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V. 1995. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 26:3-7.
150. Mercuri E, Gruter-Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Jensen A, Naom I, Bydder G, Dubowitz V, Muntoni F. 1999. Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. Neuromusc Disord 9:383-387.
151. Michelson AM, Russell ES, Sarman PJ. 1955. Dystrophica muscularis: a hereditary primary myopathy in the house mouse. Proc Natl Acad Sci USA 41:1079-1084.
152. Miyagoe Y, Hanaoka K, Nonaka I, Hayasaka M, Nabeshima Y, Arahata K, Nabeshima Y, Takeda S. 1997. Laminin α2 chain null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin-2)-deficient congenital muscular dystrophy. FEBS Letters 415:33-39.
153. Mizushima H, Takamura H, Miyagi Y, Kikkawa Y, Yamnaka N, Yasumitsu H, Migusi K, Miyazaki K.1997. Identification of integrin-dependent and integrin-independent cell adhesion domains in COOH-terminal globular region of laminin alpha 3 chain. Cell Growth Differ 8:979-987.
154. Monji A, Tashiro K, Hayashi Y, Yoshida I, Tashiro N. 1998a. The inhibitory effect of laminin 1 and synthetic peptides deduced from the sequence in the laminin alpha 1 chain on Abeta40 fibril formation in vitro. Neurosci Lett 251:65-68.
155. Monji A, Tashiro K, Yoshida I, Tashiro N. 1998b. Laminin inhibits Abeta42 fibril formation in vitro. Brain Res 788:187-190.
156. Monning U, Sandbrink R, Weidemann A, Banati RB, Masters CL, Beyreuther K. 1995. Extracellular matrix influences the biogenesis of amyloid precursor protein in microglial cells. J Biol Chem 270: 7104-7110.
157. Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L. 1996. Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. Neuromusc Disord 6:377-381.
158. Mrak RE. 1998. The pathologic spectrum of merosin deficiency. J Child Neurol 13:513-515.
159. Murtomaki S, Risteli J, Risteli L, Koivisto UM, Johansson S, Liesi P. 1992. Laminin and its neurite outgrowth-promoting domain in the brain in Alzheimer's disease and Down's syndrome patients. J Neurosci Res 32:261-273.
160. Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. 1997a. Refinement of the laminin alpha 2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J Med Genet 34:99-104.
161. Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. 1997b. Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. Neuromusc Disord 7:176-179.
162. Naom I, D'Alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, Muntoni F. 2000. Mutations in the laminin alpha 2-chain gene in two children with early-onset muscular dystrophy. Brain 123:31-41.
163. Narindrasorasak S, Lowery DE, Altman RA, Gonzalez-DeWhitt PA, Greenberg BD, Kisilevsky R. 1992. Characterization of high affinity binding between laminin and Alzheimer's disease amyloid precursor proteins. Lab Invest
164. Narindrasorasak S, Altman RA, Gonzalez-DeWhitt P, Greenberg BD, Kisilevsky R. 1995. An interaction between basement membrane and Alzheimer amyloid precursor proteins suggests a role in the pathogenesis of Alzheimer's disease. Lab Invest 72:272-282.
165. Nass D, Goldberg I, Sadeh M. 1999. Laminin alpha 2 deficient congenital muscular dystrophy: prenatal diagnosis. Early Hum Dev 55:19-24.
166. Nguyen QD, Foster CS. 1996. Cicatricial pemphigoid: diagnosis and treatment. Int Ophthalmol Clin 36:41-60.
167. Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tome FM, Schwartz K, Tryggvason K, Guicheney P. 1996. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha 2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 58:1177-1184.
168. Noakes PG, Gautam RI, Mudd J, Sanes JR, Merlie JP. 1995a. Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. Nature 374:258-262.
169. Noakes PG, Miner JH, Gautam M, Cunningham JM, Sanes JR, Merlie JP. 1995b. The renal glomerulus of mice lacking s-laminin/ laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. Nat Genet 10:400-406.
170. Nonaka I. 1998. Animal models of muscular dystrophies. Lab Anim Sci 48:8-17.
171. Ontell M. 1981. Muscle fiber necrosis in murine dystrophy. Muscle Nerve 4:204-213.
172. Parente MG, Chung LC, Ryynanen J, Woodley DT, Wynn KC, Bauer EA, Mattei MG, Chu ML, Uitto J 1991. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci USA 88:6931-6935.
173. Patton BL, Miner JH, Chiu AY, Sanes JR. 1997. Distribution and function of laminins in the neuromuscular system of developing, adult, and mutant mice. J Cell Biol 139:1507-1521.
174. Patton BL, Chiu AY, Sanes JR. 1998. Synaptic laminin prevents glial entry into the synaptic cleft. Nature 393:698-701.
175. Pearson RW. 1962. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 39:551-575.
176. Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, Di Cianno B, Hoffman EP. 1996. Congenital muscular dystrophy with primary laminin alpha 2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 40:782-791.
177. Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bonnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. 1998. Laminin alpha 2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 51:101-110.
178. Peng HB, Markey DR, Muhlach WL, Pollack ED. 1987. Development of presynaptic specializations induced by basic polypeptide-coated latex beads in spinal cord cultures. Synapse 1:10-19.
179. Philpot J, Topaloglu H, Pennock J, Dubowitz V. 1995. Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy. Neuromusc Disord 5:227-231.
180. Porter BE, Weis J, Sanes JR. 1995. A motorneuron-selective stop signal in the synaptic protein S-laminin. Neuron 14:549-559.
181. Posteraro P, Sorvillo S, Gagnoux-Palaxios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G. 1998. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem Biophys Res Commun 243:758-764.
182. Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J. 1994a. A homozygous non-sense mutation in the beta 3 chain of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:57-60.
183. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. 1994b. Mutations in the g2 chain gene (LAMC2) of kalinin/ laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-298.
184. Pulkinnen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J. 1995. Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 25:192-198.
185. Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano A, Uitto J. 1997. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 109:232-237.
186. Pulkkinen L, Uitto J, Christiano AM. 1999. The molecular basis of junctional epidermolysis bullosa. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. Baltimore: John Hopkins University Press, p 300-325.
187. Rogers SL, Palm SL, McCarthy J, Furcht LT. 1983. Neurite extension by peripheral and central nervous neurons in response to substratum-bound fibronectin and laminin. Dev Biol 98:212-220.
188. Rousselle P, Lunstrum GP Keene DR, Burgeson RE. 1991. Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 114:567-576.
189. Rouselle P, Keene DR, Rugggiero F, Champliaud M, van der Rest M, Burgeson RE. 1997. Laminin 5 binds the NC-1 domain of type VII collagen. J Cell Biol 138:719-728.
190. Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G. 1997. A homozygous mutation in the integrin alpha 6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 99:2826-2831.
191. Ryan MC, Tizard R, VanDevaner DR, Carter WG. 1994. Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair. J Biol Chem 269:22779-22787.
192. Ryan MC, Lee K, Miyashita Y, Carter WG. 1999. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol 145:1309-1323.
193. Ryynanen M, Knowlton RG, Parente MG, Chung LC, Chu ML, Uitto J. 1991. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet 49:797-803.
194. Ryynanen M, Ryynanen J, Sollberg S, Iozzo RV, Knowlton RG, Uitto J. 1992. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest 89:974-980.
195. Sakai LY, Keene DR, Morris NP, Burgeson RE. 1986. Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 103:1577-1586.
196. Sanes JR, Lichtman JW. 1999. Development of the vertebrate neuromuscular junction. Annu Rev Neurosci 22:389-442.
197. Sanes JR, Marshall LM, McMahan UJ. 1978. Reinnervation of muscle fiber basal lamina after removal of myofibers. Differentiation of regenerating axons at original synaptic sites. J Cell Biol 78:176-198.
198. Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V. 1995. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 5:307-316.
199. Sewry CA, Philpot J, Sorokin LM, Wilson LA, Naom I, Goodwin F, D'Alessandro M, Dubowitz V, Muntoni F. 1996. Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. Lancet 347:582-584.
200. Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F. 1997a. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy. Neuropediatrics 28:217-222.
201. Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F. 1997b. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabeling of two fragments of the laminin alpha 2 chain. Neuromusc Disord 7:169-175.
202. Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. 1995. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 10:472-475.
203. Smith LT. 1993. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol 129:1578-1584.
204. Son YJ, Patton BL, Sanes JR. 1999. Induction of presynaptic differentiation in cultured neurons by extracellular matrix components. Eur J Neurosci 11:3457-3467.
205. Straub V, Campbell KP. 1997. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 10:168-175.
206. Straub V, Ettinger AJ, Durbeej M, Venzke DP, Cutshall S, Sanes JR, Campbell KP. 1999. e-sarcoglycan replaces a-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem 274:27989-27996.
207. Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP. 1994. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 269:13729-13732.
208. 2J mice. Hum Mol Genet 4:1055-1061.
209. Suzuki A, Yoshida M, Hayashi K, Mizuno Y, Hagiwara Y, Ozawa E. 1994. Molecular organization at the glycoprotein-complex-binding site of dystrophin: three dystrophin-associated proteins bind directly to the carboxy-terminal portion of dystrophin. Eur J Biochem 220:283-292.
210. Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath JA, Suzumori K, Aiso S, Uitto J, Nishikawa T. 1998. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 110:174-178.
211. Taniuchi K, Takata M, Matsui C, Fushida Y, Uchiyama K, Mori T, Kawara S, Yancey KB, Takehara K. 1999. Antiepiligrin (laminin 5) cicatricial pemphigoid associated with underlying gastric carcinoma producing laminin 5. Br J Dermatol 140:696-700.
212. Tidman MJ, Eady RAJ. 1985. Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 84:374-377.
213. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M. 1993. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286.
214. Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. 1994. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci III 317:351-357.
215. Tong L, Hodgkins PR, Denyer J, Brosnahan D, Harper J, Russell-Effitt I, Taylor DSI, Atherton D. 1999. The eye in epidermolysis bullosa. Br J Ophthalmol 83:323-326.
216. Uitto J, Christiano AM. 1992. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other skin diseases. J Clin Invest 90:687-692.
217. Vachon PH, Loechel F, Xu H, Wewer UM, Engvall E. 1996. Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J Cell Biol 134:1483-1497.
218. Vailly J, Szepetowki P, Mattei MG, Pedeutour F, Burgeson RE, Ortonne JP, Meneguzzi G. 1994a. The gene for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosome 1q32 and 1q25-31. Genomics 21:286-288.
219. Vailly J, Verrando P, Champliaud MF, Gerecke D, Wagman DW, Baudoin C, Aberdam D, Burgeson RE, Bauer E, Ortonne JP. 1994b. The 100 kDa chain of nicein/kalinin is a laminin β2 chain variant. Eur J Biochem 219:209-218.
220. Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne JP, Meneguzzi G. 1995a. Identification of a homozygous one-base pair deletion in exon 1 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 104:462-466.
221. Vailly J, Pulkkinen L, Christiano AM, Tryggvason K, Uitto J, Ortonne JP, Meneguzzi G. 1995b. Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz junctional epidermolysis bullosa. J Invest Dermatol 104:434-437.
222. Vailly J, Gagnoux-Palacios L, Dellambra E, Romero C, Pinola M, Zambruno G, De Luca M, Ortonne JP, Meneguzzi G. 1998. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. Gene Ther 5:1322-1332.
223. Vainzof M, Marie SK, Reed UC, Schwartzman JS, Pavanello RC, Passos-Bueno MR, Zatz M. 1995. Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics 26:293-297.
224. Verlinsky Y, Kuliev AM. 1993. Preimplantation diagnosis of genetic disease: a new technique in assisted reproduction. New York: Wiley-Liss, p 1-144.
225. Verrando P, Hsi BL, Yeh CJ, Pisani A, Serieys N, Ortonne JP. 1987. Monoclonal antibody, GB3, a new probe for the study of human basement membrane and hemidesmosomes. Exp Cell Res 170:116-128.
226. Verrando P, Blanchet-Bardon C, Pisani A, Thomas L, Cambazard I, Eady RA, Ortonne JP. 1991. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 64:85-91.
227. Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. 1995. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 10:229-234.
228. Vilquin JT, Kinoshita I, Roy B, Goulet M, Engvall E, Tome F, Fardeau M, Tremblay JP. 1996. Partial laminin alpha 2 chain restoration in alpha 2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation. J Cell Biol 133:185-197.
229. Vilquin JT, Guerette B, Puymirat J, Yaffe D, Tome FM, Fardeau M, Fiszman M, Schwartz K, Tremblay JP. 1999. Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles. Gene Ther 6:792-800.
230. Voit T. 1998. Congenital muscular dystrophies: 1997 update. Brain Dev 20:65-74.
231. Vuolteenaho R, Nissinen M, Sainio K, Byers M, Eddy R, Hirvonen H, Shows TB, Sariola H, Engvall E, Tryggvason K. 1994. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 124:381-394.
232. Wang GY, Hirai K, Shimada H, Taji S, Zhong SZ. 1992. Behavior of axons, Schwann cells and perineural cells in nerve regeneration within transplanted nerve grafts: effects of anti-laminin and anti-fibronectin antisera. Brain Res 583:216-226.
233. Watkins SC, Hoffman EP, Slayter HS, Kunkel LM. 1988. Immunoelectron microscopic localization of dystrophin in myofibers. Nature 333:863-866.
234. Wewer UM, Gerecke DR, Durkin ME, Kurtz KS, Mattei MG, Champliaud MF, Burgeson RE, Albrechtsen R. 1994. Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. Genomics 24:243-252.
235. Woo M, Tanabe Y, Ishii H, Nonaka I, Yokoyama M, Esaki K. 1987. Muscle fiber growth and necrosis in dystrophic muscles: a comparative study between dy and mdx mice. J Neurol Sci 82:111-122.
236. Woodley DT, Briggaman RA, O'Keefe EJ, Inman AO, Queen LL, Gammon WR. 1984. Identification of the skin basement-membrane autoantigen in epidermolysis bullosa acquisita. N Engl J Med 310: 1007-1013.
237. Worton R. 1995. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 270:755-756.
238. Xu H, Christmas P, Wu XR, Wewer UM, Engvall E. 1994a. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 91:5572-5576.
239. Xu H, Wu XR, Wewer UM, Engvall E. 1994b. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 8:297-302.
240. Yancey KB, Kirtschig G, Yee C, Lazarova Z. 1995. Studies of patients with anti-epiligrin cicatricial pemphigoid. J Dermatol 22:829-835.
241. Yoshida M, Ozawa E. 1990. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 108:748-752.
242. Zhang X, Vuolteenaho R, Tryggvason K. 1996. Structure of the human laminin α2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. J Biol Chem 271:27664-27669.