Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy-Reference-Cited by-同舟云学术

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Published:2005-06-01 Issue:8 Volume:13 Page:935-946
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bongers Ernie M H F,Huysmans Frans T,Levtchenko Elena,de Rooy Jacky W,Blickman Johan G,Admiraal Ronald J C,Huygen Patrick L M,Cruysberg Johannes R M,Toolens Pauline A M P,Prins Judith B,Krabbe Paul F M,Borm George F,Schoots Jeroen,van Bokhoven Hans,van Remortele Angela M F,Hoefsloot Lies H,van Kampen Albert,Knoers Nine V A M

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201446.pdf

Reference51 articles.

1. Dreyer SD, Zhou G, Baldini A et al: Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998; 19: 47–50.

2. Vollrath D, Jaramillo-Babb VL, Clough MV et al: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998; 7: 1091–1098.

3. Chen H, Lun Y, Ovchinnikov D et al: Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998; 19: 51–55.

4. Chen H, Ovchinnikov D, Pressman CL, Aulehla A, Lun Y, Johnson RL : Multiple calvarial defects in lmx1b mutant mice. Dev Genet 1998; 22: 314–320.

5. Morello R, Zhou G, Dreyer SD et al: Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001; 27: 205–208.

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