186 related articles for article (PubMed ID: 15562281)
1. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
Dunston JA; Reimschisel T; Ding YQ; Sweeney E; Johnson RL; Chen ZF; McIntosh I
Eur J Hum Genet; 2005 Mar; 13(3):330-5. PubMed ID: 15562281
[TBL] [Abstract][Full Text] [Related]
2. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
Chen H; Lun Y; Ovchinnikov D; Kokubo H; Oberg KC; Pepicelli CV; Gan L; Lee B; Johnson RL
Nat Genet; 1998 May; 19(1):51-5. PubMed ID: 9590288
[TBL] [Abstract][Full Text] [Related]
3. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye.
Pressman CL; Chen H; Johnson RL
Genesis; 2000 Jan; 26(1):15-25. PubMed ID: 10660670
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Bongers EM; Huysmans FT; Levtchenko E; de Rooy JW; Blickman JG; Admiraal RJ; Huygen PL; Cruysberg JR; Toolens PA; Prins JB; Krabbe PF; Borm GF; Schoots J; van Bokhoven H; van Remortele AM; Hoefsloot LH; van Kampen A; Knoers NV
Eur J Hum Genet; 2005 Aug; 13(8):935-46. PubMed ID: 15928687
[TBL] [Abstract][Full Text] [Related]
5. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
Clough MV; Hamlington JD; McIntosh I
Hum Mutat; 1999; 14(6):459-65. PubMed ID: 10571942
[TBL] [Abstract][Full Text] [Related]
6. Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM; Gubler MC; Knoers NV
Pediatr Nephrol; 2002 Sep; 17(9):703-12. PubMed ID: 12215822
[TBL] [Abstract][Full Text] [Related]
7. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
Bongers EM; de Wijs IJ; Marcelis C; Hoefsloot LH; Knoers NV
Eur J Hum Genet; 2008 Oct; 16(10):1240-4. PubMed ID: 18414507
[TBL] [Abstract][Full Text] [Related]
8. [From gene to disease; the nail-patella syndrome and the LMX1B gene].
Bongers EM; Knoers NV
Ned Tijdschr Geneeskd; 2003 Jan; 147(2):67-9. PubMed ID: 12602071
[TBL] [Abstract][Full Text] [Related]
9. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
Dreyer SD; Zhou G; Baldini A; Winterpacht A; Zabel B; Cole W; Johnson RL; Lee B
Nat Genet; 1998 May; 19(1):47-50. PubMed ID: 9590287
[TBL] [Abstract][Full Text] [Related]
10. Functional characterization of LMX1B mutations associated with nail-patella syndrome.
Sato U; Kitanaka S; Sekine T; Takahashi S; Ashida A; Igarashi T
Pediatr Res; 2005 Jun; 57(6):783-8. PubMed ID: 15774843
[TBL] [Abstract][Full Text] [Related]
11. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
Marini M; Bongers EM; Cusano R; Di Duca M; Seri M; Knoers NV; Ravazzolo R
Int J Mol Med; 2003 Jul; 12(1):79-82. PubMed ID: 12792813
[TBL] [Abstract][Full Text] [Related]
12. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
Hamlington JD; Jones C; McIntosh I
Hum Mutat; 2001 Nov; 18(5):458. PubMed ID: 11668639
[TBL] [Abstract][Full Text] [Related]
13. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
Heidet L; Bongers EM; Sich M; Zhang SY; Loirat C; Meyrier A; Broyer M; Landthaler G; Faller B; Sado Y; Knoers NV; Gubler MC
Am J Pathol; 2003 Jul; 163(1):145-55. PubMed ID: 12819019
[TBL] [Abstract][Full Text] [Related]
14. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
Morello R; Zhou G; Dreyer SD; Harvey SJ; Ninomiya Y; Thorner PS; Miner JH; Cole W; Winterpacht A; Zabel B; Oberg KC; Lee B
Nat Genet; 2001 Feb; 27(2):205-8. PubMed ID: 11175791
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.
Lin Y; Zhao J; Chen S; Zeng X; Du Q; Yang Y; Lu F; Pu Y; Yang Z
Bone; 2008 Sep; 43(3):591-5. PubMed ID: 18595794
[TBL] [Abstract][Full Text] [Related]
16. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
Rohr C; Prestel J; Heidet L; Hosser H; Kriz W; Johnson RL; Antignac C; Witzgall R
J Clin Invest; 2002 Apr; 109(8):1073-82. PubMed ID: 11956245
[TBL] [Abstract][Full Text] [Related]
17. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
Marini M; Giacopelli F; Seri M; Ravazzolo R
Eur J Hum Genet; 2005 Jun; 13(6):789-92. PubMed ID: 15785774
[TBL] [Abstract][Full Text] [Related]
18. LMX1B transactivation and expression in nail-patella syndrome.
Dreyer SD; Morello R; German MS; Zabel B; Winterpacht A; Lunstrum GP; Horton WA; Oberg KC; Lee B
Hum Mol Genet; 2000 Apr; 9(7):1067-74. PubMed ID: 10767331
[TBL] [Abstract][Full Text] [Related]
19. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
Hamlington JD; Clough MV; Dunston JA; McIntosh I
Eur J Hum Genet; 2000 Apr; 8(4):311-4. PubMed ID: 10854116
[TBL] [Abstract][Full Text] [Related]
20. Identification of genes controlled by LMX1B in E13.5 mouse limbs.
Gu WX; Kania A
Dev Dyn; 2010 Aug; 239(8):2246-55. PubMed ID: 20589901
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
