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Volumn 36, Issue 1, 2000, Pages 190-196

Congenital focal segmental glomerulosclerosis associated with β4 integrin mutation and epidermolysis bullosa

Author keywords

Congenital proteinuria; Epidermolysis bullosa; Focal segmental glomerular sclerosis (FSGS); 4 integrin

Indexed keywords

INTEGRIN;

EID: 0033918269     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/ajkd.2000.8293     Document Type: Article
Times cited : (81)

References (28)
  • 2
    • 0027201852 scopus 로고
    • Nephrotic syndrome in the 1st year of life
    • st year of life Pediatr Nephrol 7 1993 347 353
    • (1993) Pediatr Nephrol , vol.7 , pp. 347-353
    • Habib, R1
  • 4
    • 0025139233 scopus 로고
    • Quantitation of proteinuria with urinary protein/creatinine ratios and random testing with dipsticks in nephrotic children
    • C Abitbol G Zilleruelo M Freundlich J Strauss Quantitation of proteinuria with urinary protein/creatinine ratios and random testing with dipsticks in nephrotic children J Pediatr 116 1990 243 247
    • (1990) J Pediatr , vol.116 , pp. 243-247
    • Abitbol, C1    Zilleruelo, G2    Freundlich, M3    Strauss, J4
  • 5
    • 0026150488 scopus 로고
    • Quantitation of proteinuria using protein-creatinine ratio in random urine samples
    • RS Iyer SN Shailaja N Bhaskaranand M Baliga A Venkatesh Quantitation of proteinuria using protein-creatinine ratio in random urine samples Indian Pediatr 28 1991 463 467
    • (1991) Indian Pediatr , vol.28 , pp. 463-467
    • Iyer, RS1    Shailaja, SN2    Bhaskaranand, N3    Baliga, M4    Venkatesh, A5
  • 6
    • 0032231297 scopus 로고    scopus 로고
    • Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis Bullosa with pyloric atresia: Missense versus nonsense
    • L Pulkkinen F Rouan L Bruckner-Tuderman R Wallerstein M Garzon T Brown W Carter J Uitto Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis Bullosa with pyloric atresia: Missense versus nonsense Am J Hum Genet 63 1998 1376 1387
    • (1998) Am J Hum Genet , vol.63 , pp. 1376-1387
    • Pulkkinen, L1    Rouan, F2    Bruckner-Tuderman, L3    Wallerstein, R4    Garzon, M5    Brown, T6    Carter, W7    Uitto, J8
  • 7
    • 0030905241 scopus 로고    scopus 로고
    • Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the α6β4 integrin
    • Y Takizawa H Shimizu T Nishikawa N Hatta L Pulkkinen J Uitto Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the α6β4 integrin J Invest Dermatol 108 1997 943 946
    • (1997) J Invest Dermatol , vol.108 , pp. 943-946
    • Takizawa, Y1    Shimizu, H2    Nishikawa, T3    Hatta, N4    Pulkkinen, L5    Uitto, J6
  • 8
    • 2642617023 scopus 로고    scopus 로고
    • Epidermolysis bullosa with pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4)
    • L Pulkkinen DU Kim J Uitto Epidermolysis bullosa with pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4) Am J Pathol 152 1998 157 166
    • (1998) Am J Pathol , vol.152 , pp. 157-166
    • Pulkkinen, L1    Kim, DU2    Uitto, J3
  • 9
    • 0030611108 scopus 로고    scopus 로고
    • Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
    • L Pulkkinen VE Kimonis Y Xu EN Spanou WH Irwin McLean J Uitto Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia Hum Mol Genet 6 1997 669 674
    • (1997) Hum Mol Genet , vol.6 , pp. 669-674
    • Pulkkinen, L1    Kimonis, VE2    Xu, Y3    Spanou, EN4    Irwin McLean, WH5    Uitto, J6
  • 10
    • 0030912738 scopus 로고    scopus 로고
    • A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia
    • L Ruzzi L Gagnoux-Palacios M Pinola S Belli G Meneguzzi M D'Alessio G Zambruno A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia J Clin Invest 99 1997 2826 2831
    • (1997) J Clin Invest , vol.99 , pp. 2826-2831
    • Ruzzi, L1    Gagnoux-Palacios, L2    Pinola, M3    Belli, S4    Meneguzzi, G5    D'Alessio, M6    Zambruno, G7
  • 11
    • 0033119861 scopus 로고    scopus 로고
    • Structure and function of cell adhesion molecules
    • L Petruzzelli M Takami HD Humes Structure and function of cell adhesion molecules Am J Med 106 1999 467 476
    • (1999) Am J Med , vol.106 , pp. 467-476
    • Petruzzelli, L1    Takami, M2    Humes, HD3
  • 12
    • 0027268645 scopus 로고
    • Integrins: Cell adhesives and modulators of cell function
    • FT Bosman Integrins: Cell adhesives and modulators of cell function Histochem J 25 1993 469 477
    • (1993) Histochem J , vol.25 , pp. 469-477
    • Bosman, FT1
  • 13
    • 0028944247 scopus 로고
    • A recombinant tail-less integrin β4 subunit disrupts hemidesmosomes, but does not suppress α6β4-mediated cell adhesion to laminins
    • L Spinardi S Einheber T Cullen TA Milner FG Giancotti A recombinant tail-less integrin β4 subunit disrupts hemidesmosomes, but does not suppress α6β4-mediated cell adhesion to laminins J Cell Biol 129 1995 473 487
    • (1995) J Cell Biol , vol.129 , pp. 473-487
    • Spinardi, L1    Einheber, S2    Cullen, T3    Milner, TA4    Giancotti, FG5
  • 14
    • 0030773865 scopus 로고    scopus 로고
    • The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the β4 integrin subunit
    • L Borradori PJ Koch CM Neissen S Erkeland MR van Leusden A Sonnenberg The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the β4 integrin subunit J Cell Biol 136 1997 1333 1347
    • (1997) J Cell Biol , vol.136 , pp. 1333-1347
    • Borradori, L1    Koch, PJ2    Neissen, CM3    Erkeland, S4    van Leusden, MR5    Sonnenberg, A6
  • 15
    • 0030820604 scopus 로고    scopus 로고
    • A minimal region on the integrin β4 subunit that is critical to its localization in hemidesmosomes regulates the distribution of HD1/plectin in COS-7 cells
    • CM Neissen EHM Hulsman LCJM Oomen I Kuikman A Sonnenberg A minimal region on the integrin β4 subunit that is critical to its localization in hemidesmosomes regulates the distribution of HD1/plectin in COS-7 cells J Cell Sci 110 1997 1705 1716
    • (1997) J Cell Sci , vol.110 , pp. 1705-1716
    • Neissen, CM1    Hulsman, EHM2    Oomen, LCJM3    Kuikman, I4    Sonnenberg, A5
  • 16
    • 0031966746 scopus 로고    scopus 로고
    • Cell and molecular biology of kidney development
    • SA Orellana ED Avner Cell and molecular biology of kidney development Semin Nephrol 18 1998 233 243
    • (1998) Semin Nephrol , vol.18 , pp. 233-243
    • Orellana, SA1    Avner, ED2
  • 17
    • 0026728916 scopus 로고
    • Integrin receptors in the glomerulus: Potential role in glomerular injury
    • S Adler Integrin receptors in the glomerulus: Potential role in glomerular injury Am J Physiol 262 1992 F697 F704
    • (1992) Am J Physiol , vol.262 , pp. F697-F704
    • Adler, S1
  • 18
    • 0025345399 scopus 로고
    • Distribution of β1 and β3 integrins in human fetal and adult kidney
    • M Korhonen J Ylanne L Laitinen I Virtanen Distribution of β1 and β3 integrins in human fetal and adult kidney Lab Invest 62 1990 616 625
    • (1990) Lab Invest , vol.62 , pp. 616-625
    • Korhonen, M1    Ylanne, J2    Laitinen, L3    Virtanen, I4
  • 19
    • 0026651970 scopus 로고
    • Differential expression of integrin alpha chains by renal epithelial cells
    • MA Rahilly S Fleming Differential expression of integrin alpha chains by renal epithelial cells J Pathol 167 1992 327 334
    • (1992) J Pathol , vol.167 , pp. 327-334
    • Rahilly, MA1    Fleming, S2
  • 20
    • 0027056652 scopus 로고
    • Localization of the α6 and β4 integrin subunits in normal human non lymphoid tissues
    • PG Natali MR Nicotra A Bigotti C De Martino Localization of the α6 and β4 integrin subunits in normal human non lymphoid tissues J Cell Sci 103 1992 1243 1247
    • (1992) J Cell Sci , vol.103 , pp. 1243-1247
    • Natali, PG1    Nicotra, MR2    Bigotti, A3    De Martino, C4
  • 24
    • 0029832537 scopus 로고    scopus 로고
    • Distribution of renal integrin receptors and their ligands in congenital nephrotic syndrome of the Finnish type
    • P Ljungberg I Virtanen C Holmberg H Jalanko Distribution of renal integrin receptors and their ligands in congenital nephrotic syndrome of the Finnish type Virchows Arch 428 1996 333 346
    • (1996) Virchows Arch , vol.428 , pp. 333-346
    • Ljungberg, P1    Virtanen, I2    Holmberg, C3    Jalanko, H4
  • 25
    • 0030610163 scopus 로고    scopus 로고
    • α3β1 integrin is required for normal development of the epidermal basement membrane
    • CM DiPersio KM Hodivala-Dilke R Jaenisch JA Kreidberg RO Hynes α3β1 integrin is required for normal development of the epidermal basement membrane J Cell Biol 137 1997 729 742
    • (1997) J Cell Biol , vol.137 , pp. 729-742
    • DiPersio, CM1    Hodivala-Dilke, KM2    Jaenisch, R3    Kreidberg, JA4    Hynes, RO5
  • 28
    • 0022570364 scopus 로고
    • Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease
    • TG Berger RL Detlefs CF Donatucci Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease Pediatr Dermatol 3 1986 130 134
    • (1986) Pediatr Dermatol , vol.3 , pp. 130-134
    • Berger, TG1    Detlefs, RL2    Donatucci, CF3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.