Insight into podocyte differentiation from the study of human genetic disease: Nail-patella syndrome and transcriptional regulation in podocytes

Pediatric Research

Volumn 51, Issue 5, 2002, Pages 551-558

  Morello, Roy ^a   Lee, Brendan ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN LMX1B; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL DIFFERENTIATION; CELL FUNCTION; CELL STRUCTURE; ENDOTHELIUM CELL; GENE LOCUS; GENETIC ANALYSIS; GLOMERULUS FILTRATION; HUMAN; MOLECULAR BIOLOGY; MOLECULAR DYNAMICS; NAIL PATELLA SYNDROME; PHENOTYPE; PODOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; TRANSCRIPTION REGULATION; UROGENITAL TRACT DISEASE;

EID: 0036233265     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200205000-00002     Document Type: Article

References (66)

1. The molecular basis of embryonic kidney development
2. Inductive tissue interactions, cell signaling, and the control of kidney organogenesis
3. Kidney morphogenesis: Cellular and molecular regulation
4. Kidney development branches out
5. Regulatory molecules in kidney development
6. The development of the kidney
7. Structure and development of the glomerular capillary wall and basement membrane
8. The malformed kidney: Disruption of glomerular and tubular development
9. Podocyte differentiation in the absence of endothelial cells as revealed in the zebrafish avascular mutant, cloche
10. Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: Sequence, distribution, association with laminins, and developmental switches
11. Role of distinct type IV collagen networks in glomerular development and function
12. The laminin alpha chains: Expression, developmental transitions, and chromosomal locations of alpha 1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform
13. Type IV collagen: Structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis
14. Organization and expression of basement membrane collagen IV genes and their roles in human disorders
15. Collagen COL4A3 knockout: A mouse model for autosomal Alport syndrome
16. Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome
17. Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): Implications for Alport syndrome
18. The renal glomerulus of mice lacking s-laminin/laminin beta 2: Nephrosis despite molecular compensation by laminin beta I
19. Kidney development: Regulatory molecules crucial to both mice and men
20. Regulation of podocyte structure during the development of nephrotic syndrome
21. Scanning and transmission electron-microscopic study of the development of the podocyte in the human fetus
22. Glomerular podocytes and adhesive interaction with glomerular basement membrane
23. Cell cycle regulation and differentiation in the human podocyte lineage
24. Roles of the podocyte in glomerular function
25. The role of the podocyte in glomerulosclerosis
26. Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
27. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHSI) and characterization of mutations
28. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
29. Role of nephrin in cell junction formation in human nephrogenesis
30. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: Inactivation of the gene leads to massive proteinuria and neonatal death
31. Unraveling the mechanisms of glomerular ultrafiltrafion: Nephrin, a key component of the slit diaphragm
32. Congenital nephrotic syndrome in mice lacking CD2-associated protein
33. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
34. Contractile proteins in podocytes: Immunocytochemical localization of actin and alpha-actinin in normal and nephrotic rat kidneys
35. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
36. Stomatin, a MEC-2 like protein, is expressed by mammalian sensory neurons
37. Podocytes respond to mechanical stress in vitro
38. Synaptopodin: An actin-associated protein in telencephalic dendrites and renal podocytes
39. The glomerular slit diaphragm is a modified adherens junction
40. Altered podocyte structure in GLEPPI (Ptpro)-deficient mice associated with hypertension and low glomerular filtration rate
41. GLEPPI, a renal glomerular epithelial cell (podocyte) membrane protein-tyrosine phosphatase. Identification, molecular cloning, and characterization in rabbit
42. Molecular cloning of cDNAs encoding human GLEPPI, a membrane protein tyrosine phosphatase: Characterization of the GLEPPI protein distribution in human kidney and assignment of the GLEPPI gene to human chromosome 12p12-p13
43. The Wilms tumour gene, WTI, in normal and abnormal nephrogenesis, Pediatr Nephrol
44. Clinical spectrum of Denys-Drash and Frasier syndrome
45. Identification of constitutional WTI mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database
46. Nail-patella syndrome
47. Nephropathy of nail-patella syndrome
48. Nail-patella syndrome in a spontaneously aborted 18-week fetus: Ultrastructural and immunofluorescent study of the kidneys
49. Mutations in LMXIB cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
50. Mutation analysis of LMXIB gene in nail-patella syndrome patients
51. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
52. Restricted distribution of loss-of-function mutations within the LMXIB genes of nail-patella syndrome patients
53. Identification of LMXIB gene point mutations in Italian patients affected with nail-patella syndrome
54. Nail-patella syndrome: Identification of mutations in the LMX1B gene in Dutch families
55. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome
56. LIM Domains - Multiple roles as adapters and functional modifiers in protein interactions
57. The LIM domain: Regulation by association
58. Functions of LIM-homeobox genes
59. Induction of the LIM homeobox gene Lmx1b by WNT7a establishes dorsoventral pattern in the vertebrate limb
60. Limb and kidney defects in Lmxib mutant mice suggest an involvement of Lmx1b in human nail patella syndrome
61. LMX1B transactivation and expression in nail-patella syndrome
62. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
63. Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36
64. Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: The LIM2 domain determines specificity
65. Pod-1, a esoderm-specific basic-helix-lop-helix protein expressed in mesenchymal ad glomerular epithelial cells in the developing kidney
66. The basic-helix-loop-helix protein podl is critically important for kidney and lung organogenesis