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6. 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]
7. [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]
8. How are podocytes affected in nail-patella syndrome? Witzgall R Pediatr Nephrol; 2008 Jul; 23(7):1017-20. PubMed ID: 18253764 [TBL] [Abstract][Full Text] [Related]
9. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. Morello R; Lee B Pediatr Res; 2002 May; 51(5):551-8. PubMed ID: 11978876 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys. Burghardt T; Kastner J; Suleiman H; Rivera-Milla E; Stepanova N; Lottaz C; Kubitza M; Böger CA; Schmidt S; Gorski M; de Vries U; Schmidt H; Hertting I; Kopp J; Rascle A; Moser M; Heid IM; Warth R; Spang R; Wegener J; Mierke CT; Englert C; Witzgall R J Am Soc Nephrol; 2013 Nov; 24(11):1830-48. PubMed ID: 23990680 [TBL] [Abstract][Full Text] [Related]
19. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Isojima T; Harita Y; Furuyama M; Sugawara N; Ishizuka K; Horita S; Kajiho Y; Miura K; Igarashi T; Hattori M; Kitanaka S Nephrol Dial Transplant; 2014 Jan; 29(1):81-8. PubMed ID: 24042019 [TBL] [Abstract][Full Text] [Related]