Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

Nature Genetics

Volumn 27, Issue 2, 2001, Pages 205-208

  Morello, Roy ^a   Zhou, Guang ^a   Dreyer, Sandra D ^a,b   Harvey, Scott J ^c   Ninomiya, Yoshifumi ^d   Thorner, Paul S ^c   Miner, Jeffrey H ^e   Cole, William ^c   Winterpacht, Andreas ^f   Zabel, Bernhard ^b   Oberg, Kerby C ^g   Lee, Brendan ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF HAMBURG   (Germany)

^g LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; GENE PRODUCT; PROTEIN LMX1B; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; COLLAGEN DEFECT; GENE EXPRESSION REGULATION; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; IMMUNOHISTOCHEMISTRY; KIDNEY DISEASE; MORPHOGENESIS; MOUSE; NAIL PATELLA SYNDROME; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ANIMALS; BASEMENT MEMBRANE; COLLAGEN; EXTRACELLULAR MATRIX; GENE EXPRESSION REGULATION; HOMEODOMAIN PROTEINS; KIDNEY FAILURE; KIDNEY GLOMERULUS; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; NAIL-PATELLA SYNDROME; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

ANIMALIA; GLOMERULUS;

EID: 0035134740     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/84853     Document Type: Article

References (30)

1. Ontogenesis of glomerular basement membrane: Structural and functional properties
2. Organization and expression of basement membrane collagen IV genes find their roles in human disorders
3. Role of distinct type IV collagen networks in glomerular development and function
4. Collagen IV α3, α4, and α5 chains in rodent basal laminae: Sequence, distribution, association with laminins, and developmental switches
5. Identification of mutations in the COL4A5 collagen gene in Alport syndrome
6. Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome
7. Type IV collagen: Structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis
8. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
9. Nephropathy of nail-patella syndrome
10. Inductive tissue interactions, cell signaling, and the control of kidney organogenesis
11. Directional regulatory activity of cisacting elements in the bidirectional α1(IV) and α2(IV) collagen gene promoter
12. Two genes, COL4A3 and COL4A4 coding for the human α3(IV) and α4(IV) collagen chains are arranged head-to-head on chromosome 2q36
13. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide- specific monoclonal antibodies
14. Variability of the antigenicity of the glomerular basement membrane in nailpatella syndrome
15. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of Lmxlb in human nail patella syndrome
16. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb
17. Developmental expression patterns of mouse sFRP genes encoding members of the secreted frizzled related protein family
18. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
19. Molecular and functional defects in kidneys of mice lacking collagen α3(IV): Implications for Alport syndrome
20. Assembly of type IV collagen. Insights from α3(IV) collagen-deficient mice
21. Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix-loop-helix protein: Building a functional insulin minienhancer complex
22. An 18-base-pair sequence in the mouse pro-α-1(II) collagen gene is sufficient for expression in cartilage and binds nuclear proteins that are selectively expressed in chondrocytes
23. A conserved cluster of homeodomain binding sites in the mouse Hoxa-4 intron functions in Drosophila embryos as an enhancer that is directly regulated by Ultrabithorax
24. Distant liaisons: Long-range enhancer-promoter interactions in Drosophila
25. Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome
26. The renal glomerulus of mice lacking s-laminin/laminin β2: Nephrosis despite molecular compensation by laminin β1
27. Mutation analysis of LMX1B gene in nail-patella syndrome patients
28. Studying gene expression on tissue sections using in situ hybridization
29. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different α chains of human type IV collagen
30. LMX1B transactivation and expression in nail-patella syndrome