A human integrin-α3 mutation confers major renal developmental defects

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Shukrun, Rachel ^a,b   Vivante, Asaf ^a,b   Pleniceanu, Oren ^a,b   Vax, Einav ^a,b   Anikster, Yair ^a   Dekel, Benjamin ^a,b   Lotan, Danny ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA3 INTEGRIN; BONE MORPHOGENETIC PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; TRANSCRIPTION FACTOR PAX8; TRANSFORMING GROWTH FACTOR; WNT PROTEIN;

ADULT; ARTICLE; CASE REPORT; CHILD; DISEASE SEVERITY; EXTRACELLULAR MATRIX; FETUS; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; ITGA3 GENE; KIDNEY DEVELOPMENT; KIDNEY MALFORMATION; MOLECULAR ANALYSIS; OCT4 GENE; PAX8 GENE; RENAL HYPODYSPLASIA; TISSUE DIFFERENTIATION; UPREGULATION; ANIMAL; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; KIDNEY; LUNG DISEASE; METABOLISM; MOUSE; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PROTEIN TRANSPORT;

ADULT; ANIMALS; EPIDERMOLYSIS BULLOSA; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; INTEGRIN ALPHA3; KIDNEY; LUNG DISEASES; MICE; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PROTEIN TRANSPORT;

EID: 84898002535     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0090879     Document Type: Article

References (21)

1. Pleniceanu O, Harari-Steinberg O, Dekel B (2010) Concise review: Kidney stem/progenitor cells: differentiate, sort out, or reprogram? Stem Cells 28: 1649-1660.
2. Bertram JF, Douglas-Denton RN, Diouf B, Hughson MD, Hoy WE (2011) Human nephron number: implications for health and disease. Pediatr Nephrol 26: 1529-1533.
3. Little MH, McMahon AP (2012) Mammalian kidney development: principles, progress, and projections. Cold Spring Harb Perspect Biol 4.
4. Kanwar YS, Wada J, Lin S, Danesh FR, Chugh SS, et al. (2004) Update of extracellular matrix, its receptors, and cell adhesion molecules in mammalian nephrogenesis. Am J Physiol Renal Physiol 286: F202-215. (Pubitemid 38141664)
5. Mathew S, Chen X, Pozzi A, Zent R (2012) Integrins in renal development. Pediatr Nephrol 27: 891-900.
6. Kreidberg JA, Symons JM (2000) Integrins in kidney development, function, and disease. Am J Physiol Renal Physiol 279: F233-242.
7. Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, et al. (1996) Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 122: 3537-3547. (Pubitemid 26395995)
8. Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, et al. (2006) Kidney failure in mice lacking the tetraspanin CD151. J Cell Biol 175: 33-39. (Pubitemid 44537196)
9. Liu Y, Chattopadhyay N, Qin S, Szekeres C, Vasylyeva T, et al. (2009) Coordinate integrin and c-Met signaling regulate Wnt gene expression during epithelial morphogenesis. Development 136: 843-853.
10. Lelongt B, Ronco P (2003) Role of extracellular matrix in kidney development and repair. Pediatr Nephrol 18: 731-742. (Pubitemid 36949957)
11. Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, et al. (2012) Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366: 1508-1514.
12. Avni EF, Vandenhoute K, Devriendt A, Ismaili K, Hackx M, et al. (2011) Update on congenital nephrotic syndromes and the contribution of US. Pediatr Radiol 41: 76-81.
13. Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, et al. (2012) Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome. J Clin Invest 122: 4375-4387.
14. Dekel B, Zangi L, Shezen E, Reich-Zeliger S, Eventov-Friedman S, et al. (2006) Isolation and characterization of nontubular sca-1+lin- multipotent stem/progenitor cells from adult mouse kidney. J Am Soc Nephrol 17: 3300-3314. (Pubitemid 44865273)
15. Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, et al. (2013) Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. J Am Soc Nephrol 24: 550-558.
16. Adler S (1992) Characterization of glomerular epithelial cell matrix receptors. Am J Pathol 141: 571-578.
17. Rahilly MA, Fleming S (1992) Differential expression of integrin alpha chains by renal epithelial cells. J Pathol 167: 327-334.
18. Ekblom P, Klein G, Ekblom M, Sorokin L (1991) Laminin isoforms and their receptors in the developing kidney. Am J Kidney Dis 17: 603-605.
19. Jain S, Suarez AA, McGuire J, Liapis H (2007) Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease. Pediatr Nephrol 22: 962-974. (Pubitemid 46881914)
20. Benoit G, Machuca E, Antignac C (2010) Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25: 1621-1632.
21. Miner JH, Li C (2000) Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane. Dev Biol 217: 278-289. (Pubitemid 30060876)