A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development

Journal of the American Society of Nephrology

Volumn 13, Issue 8, 2002, Pages 2058-2067

  Natoli, Thomas A ^a   Liu, Jing ^a   Eremina, Vera ^a   Hodgens, Karen ^a   Li, Cong ^a   Hamano, Yuki ^a   Mundel, Peter ^a   Kalluri, Raghu ^a   Miner, Jeffrey H ^a   Quaggin, Susan E ^a   Kreidberg, Jordan A ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD31 ANTIGEN; GROWTH FACTOR; MUTANT PROTEIN; ZINC FINGER PROTEIN;

ANGIOGENESIS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DENYS DRASH SYNDROME; DEVELOPMENT; EMBRYO; GLOMERULOPATHY; GLOMERULUS CAPILLARY; GLOMERULUS EPITHELIUM; GLOMERULUS FILTRATION; MALE; MOUSE; NONHUMAN; PODOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCAR FORMATION; TRANSGENIC MOUSE; TUMOR SUPPRESSOR GENE; VASODILATATION; WT1 GENE;

EID: 18444389756     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000022420.48110.4B     Document Type: Article

References (60)

1. α3β 1 integrin has a crucial role in kidney and lung organogenesis
2. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
3. Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney
4. Nephrin localizes to the slit pore of the glomerular epithelial cell
5. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
6. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
7. Podocin localizes in the kidney to the slit diaphragm area
8. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin
9. CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain
10. The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo
11. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
12. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
13. WT-1 is required for early kidney development
14. Donor splice-site mutations in WT1 are responsible for Frasier syndrome
15. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
16. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in DenysDrash syndrome
17. WT1 regulates the expression of the major glomerular podocyte membrane protein podocalyxin
18. Glomerular extracellular matrix and growth factors in diffuse mesangial sclerosis
19. Identification and characterization of a glomerular-specific promoter from the human nephrin gene
20. Glomerular-specific gene excision in vivo
21. Selective immunoreactivities of kidney basement membranes to monoclonal antibodies against laminin: Localization of the end of the long arm and the short arms to discrete microdomains
22. Roles for laminin in embryogenesis: Exencephaly, syndactyly, and placentopathy in mice lacking the laminin α 5 chain
23. Defective glomerulogenesis in the absence of laminin α 5 demonstrates a developmental role for the kidney glomerular basement membrane
24. Domain IV of mouse laminin β1 and β2 chains: Structure, glycosaminoglycan modification, and immunochemical analysis of tissue contents
25. The laminin α chains: Expression, developmental transitions, and chromosomal locations of α1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel α 3 isoform
26. CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere
27. A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts
28. Podocytes in glomerulus of rat kidney express a characteristic 44 KD protein
29. α3Aβ 1 integrin localizes to focal contacts in response to diverse extracellular matrix proteins
30. Rearrangements of the cytoskeleton and cell contacts induce process formation during differentiation of conditionally immortalized mouse podocyte cell lines
31. α3β 1 integrin regulates epithelial cytoskeletal organization
32. A clinical overview of WT1 gene mutations
33. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion
34. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations
35. WT1-mediated transcriptional activation is inhibited by dominant negative mutant proteins
36. A non-AUG translational initiation event generates novel WT-1 isoforms
37. Alternative splicing and genomic structure of the Wilms tumor gene WT1
38. Developmental biology of glomerular basement membrane components
39. Collagen IV α3, α4, and α5 chains in rodent basal laminae: Sequence, distribution, association with laminins, and developmental switches
40. The renal glomerulus of mice lacking s-laminin/laminin β2: Nephrosis despite molecular compensation by laminin β1
41. Unraveling the molecular make-up of the glomerular podocyte slit diaphragm
42. Synaptopodin: An actin-associated protein in telencephalic dendrites and renal podocytes
43. Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin
44. Expression of podocalyxin inhibits cell-cell adhesion and modifies junctional properties in Madin-Darby canine kidney cells
45. VEGF is deposited in the subepithelial matrix at the leading edge of branching airways and stimulates neovascularization in the murine embryonic lung
46. TGF-β1 perturbs vascular development and inhibits epithelial differentiation in fetal lung in vivo
47. Control of glomerular capillary development by growth factor/receptor kinases
48. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation
49. The evolution of WT1 sequence and expression pattern in the vertebrates
50. Par4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1
51. A mammalian-specific exon of WT1 is not required for development or fertility
52. Congenital nephrotic syndrome in mice lacking CD2-associated protein
53. Unraveling the mechanisms of glomerular ultra-filtration: Nephrin, a key component of the slit diaphragm
54. Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities
55. Abnormal kidney development and hematological disorders in PDGF β-receptor mutant mice
56. Switched at birth: A new family for PECAM-1
57. Differential modulation of cadherin-mediated cell-cell adhesion by platelet endothelial cell adhesion molecule-1 isoforms through activation of extra-cellular regulated kinases
58. Impaired angiogenesis in the remnant kidney model. II. Vascular endothelial growth factor administration reduces renal fibrosis and stabilizes renal function
59. Vascular endothelial growth factor enhances glomerular capillary repair and accelerates resolution of experimentally induced glomerulonephritis
60. 165 mediates glomerular endothelial repair