LMX1B

LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.{{cite journal |vauthors=Schweizer H, Johnson RL, Brand-Saberi B | title = Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression | journal = Anat. Embryol. | volume = 208 | issue = 1 | pages = 7–18 |date=April 2004 | pmid = 15007643 | doi = 10.1007/s00429-003-0373-y | s2cid = 24982408 }}

Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome.{{cite journal |vauthors=Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B | title = Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome | journal = Nat. Genet. | volume = 19 | issue = 1 | pages = 47–50 |date=May 1998 | pmid = 9590287 | doi = 10.1038/ng0598-47 | s2cid = 2329971 }}

{{Reflist}}

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• {{cite journal |vauthors=Millá E, Hernan I, Gamundi MJ, etal |title=Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. |journal=Mol. Vis. |volume=13 |pages= 639–48 |year= 2007 |pmid= 17515884 |pmc=2669506 }}
• {{cite journal |vauthors=Oshimo T, Fukai K, Higashi N, etal |title=A novel LMX1B nonsense mutation in a family with nail-patella syndrome. |journal=J. Dermatol. Sci. |volume=52 |issue= 1 |pages= 57–60 |year= 2008 |pmid= 18562181 |doi= 10.1016/j.jdermsci.2008.04.014 }}
• {{cite journal |vauthors=Ham JH, Shin SJ, Joo KR, etal |title=A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. |journal=The Korean Journal of Internal Medicine |volume=24 |issue= 3 |pages= 274–8 |year= 2009 |pmid= 19721866 |doi= 10.3904/kjim.2009.24.3.274 |pmc=2732789 }}
• {{cite journal |vauthors=Prichard ZM, Jorm AF, Mackinnon A, Easteal S |title=Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits. |journal=Psychiatr. Genet. |volume=17 |issue= 5 |pages= 299–303 |year= 2007 |pmid= 17728669 |doi= 10.1097/YPG.0b013e32816ebc9e |s2cid=10358616 |hdl=1885/34438 |hdl-access=free }}
• {{cite journal |vauthors=Dunston JA, Lin S, Park JW, etal |title=Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. |journal=Ann. Hum. Genet. |volume=69 |issue= Pt 1 |pages= 1–8 |year= 2005 |pmid= 15638822 |doi= 10.1046/j.1529-8817.2004.00133.x |s2cid=9205742 |doi-access=free }}
• {{cite journal |vauthors=Bongers EM, de Wijs IJ, Marcelis C, etal |title=Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. |journal=Eur. J. Hum. Genet. |volume=16 |issue= 10 |pages= 1240–4 |year= 2008 |pmid= 18414507 |doi= 10.1038/ejhg.2008.83 |doi-access= free }}
• {{cite journal |vauthors=Morello R, Lee B |title=Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. |journal=Pediatr. Res. |volume=51 |issue= 5 |pages= 551–8 |year= 2002 |pmid= 11978876 |doi=10.1203/00006450-200205000-00002 |doi-access=free }}
• {{cite journal |vauthors=Zarzecki M, Nieszporek T, Chudek J, Wiecek A |title=[The nail-patella syndrome: rare genetically determined cause of proteinuria] |journal=Pol. Arch. Med. Wewn. |volume=116 |issue= 6 |pages= 1192–9 |year= 2006 |pmid= 18634531 }}
• {{cite journal |vauthors=Rascle A, Neumann T, Raschta AS, etal |title=The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes. |journal=Exp. Cell Res. |volume=315 |issue= 1 |pages= 76–96 |year= 2009 |pmid= 18996370 |doi= 10.1016/j.yexcr.2008.10.012 }}
• {{cite journal |vauthors=Lin Y, Zhao J, Chen S, etal |title=A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. |journal=Bone |volume=43 |issue= 3 |pages= 591–5 |year= 2008 |pmid= 18595794 |doi= 10.1016/j.bone.2008.04.025 }}
• {{cite journal |vauthors=Heidet L, Bongers EM, Sich M, etal |title=In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. |journal=Am. J. Pathol. |volume=163 |issue= 1 |pages= 145–55 |year= 2003 |pmid= 12819019 |doi= 10.1016/S0002-9440(10)63638-3|pmc=1868155 }}
• {{cite journal |vauthors=Bergman O, Híkansson A, Westberg L, etal |title=Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease? |journal=J Neural Transm |volume=116 |issue= 3 |pages= 333–8 |year= 2009 |pmid= 19189040 |doi= 10.1007/s00702-009-0187-z |s2cid=12174130 }}
• {{cite journal |vauthors=Park S, Jamshidi Y, Vaideanu D, etal |title=Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. |journal=Invest. Ophthalmol. Vis. Sci. |volume=50 |issue= 4 |pages= 1522–30 |year= 2009 |pmid= 18952915 |doi= 10.1167/iovs.08-2483 |doi-access= }}
• {{cite journal |vauthors=Harendza S, Stahl RA, Schneider A |title=The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. |journal=Cell. Mol. Biol. Lett. |volume=14 |issue= 4 |pages= 679–91 |year= 2009 |pmid= 19562271 |pmc=6275688 |doi= 10.2478/s11658-009-0026-0 }}
• {{cite journal |vauthors=Mishima Y, Lindgren AG, Chizhikov VV, etal |title=Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth. |journal=J. Neurosci. |volume=29 |issue= 36 |pages= 11377–84 |year= 2009 |pmid= 19741143 |doi= 10.1523/JNEUROSCI.0969-09.2009 |pmc=2765661 }}
• {{cite journal |vauthors=Bongers EM, Huysmans FT, Levtchenko E, etal |title=Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 8 |pages= 935–46 |year= 2005 |pmid= 15928687 |doi= 10.1038/sj.ejhg.5201446 |doi-access= free }}
• {{cite journal |vauthors=Fuchs J, Mueller JC, Lichtner P, etal |title=The transcription factor PITX3 is associated with sporadic Parkinson's disease. |journal=Neurobiol. Aging |volume=30 |issue= 5 |pages= 731–8 |year= 2009 |pmid= 17905480 |doi= 10.1016/j.neurobiolaging.2007.08.014 |s2cid=26905615 }}
• {{cite journal |vauthors=Finsterer J, Stöllberger C |title=LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient. |journal=Eur. Neurol. |volume=49 |issue= 3 |pages= 186–7 |year= 2003 |pmid= 12646768 |doi= 10.1159/000069078 |s2cid=37995437 }}
• {{cite journal |vauthors=Marini M, Bongers EM, Cusano R, etal |title=Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. |journal=Int. J. Mol. Med. |volume=12 |issue= 1 |pages= 79–82 |year= 2003 |pmid= 12792813 |doi= 10.3892/ijmm.12.1.79}}
• {{cite journal |vauthors=Balci S, Engiz O |title=Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis. |journal=Genet. Couns. |volume=18 |issue= 2 |pages= 259–62 |year= 2007 |pmid= 17710881 }}

{{refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nail-ps GeneReviews/NIH/NCBI/UW entry on Nail-Patella Syndrome]
• {{MeshName|LIM+homeobox+transcription+factor+1+beta}}

{{Transcription factors|g3}}

{{gene-9-stub}}