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LMX1B
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An Error has occured retrieving Wikidata item for infobox LMX1B (LIM homeobox transcription factor 1 beta) هوَ بروتين يُشَفر بواسطة جين LMX1B في الإنسان.[1][2]
الوظيفة
![]() | هذا القسم فارغ أو غير مكتمل. ساهم في توسيعه. (يوليو 2018) |
الأهمية السريرية
![]() | هذا القسم فارغ أو غير مكتمل. ساهم في توسيعه. (يوليو 2018) |
المراجع
- ^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta". مؤرشف من الأصل في 2010-03-06.
- ^ Iannotti CA، Inoue H، Bernal E، Aoki M، Liu L، Donis-Keller H، German MS، Permutt MA (ديسمبر 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics. ج. 46 ع. 3: 520–4. DOI:10.1006/geno.1997.5075. PMID:9441763.
قراءة متعمقة
- Millá E، Hernan I، Gamundi MJ، وآخرون (2007). "Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma". Mol. Vis. ج. 13: 639–48. PMC:2669506. PMID:17515884.
- Oshimo T، Fukai K، Higashi N، وآخرون (2008). "A novel LMX1B nonsense mutation in a family with nail-patella syndrome". J. Dermatol. Sci. ج. 52 ع. 1: 57–60. DOI:10.1016/j.jdermsci.2008.04.014. PMID:18562181.
- Ham JH، Shin SJ، Joo KR، وآخرون (2009). "A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome". The Korean Journal of Internal Medicine. ج. 24 ع. 3: 274–8. DOI:10.3904/kjim.2009.24.3.274. PMC:2732789. PMID:19721866.
- Prichard ZM، Jorm AF، Mackinnon A، Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. ج. 17 ع. 5: 299–303. DOI:10.1097/YPG.0b013e32816ebc9e. PMID:17728669.
- Dunston JA، Lin S، Park JW، وآخرون (2005). "Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome". Ann. Hum. Genet. ج. 69 ع. Pt 1: 1–8. DOI:10.1046/j.1529-8817.2004.00133.x. PMID:15638822.
- Bongers EM، de Wijs IJ، Marcelis C، وآخرون (2008). "Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man". Eur. J. Hum. Genet. ج. 16 ع. 10: 1240–4. DOI:10.1038/ejhg.2008.83. PMID:18414507.
- Morello R، Lee B (2002). "Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes". Pediatr. Res. ج. 51 ع. 5: 551–8. DOI:10.1203/00006450-200205000-00002. PMID:11978876.
- Zarzecki M، Nieszporek T، Chudek J، Wiecek A (2006). "[The nail-patella syndrome: rare genetically determined cause of proteinuria]". Pol. Arch. Med. Wewn. ج. 116 ع. 6: 1192–9. PMID:18634531.
- Rascle A، Neumann T، Raschta AS، وآخرون (2009). "The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes". Exp. Cell Res. ج. 315 ع. 1: 76–96. DOI:10.1016/j.yexcr.2008.10.012. PMID:18996370.
- Lin Y، Zhao J، Chen S، وآخرون (2008). "A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family". Bone. ج. 43 ع. 3: 591–5. DOI:10.1016/j.bone.2008.04.025. PMID:18595794.
- Heidet L، Bongers EM، Sich M، وآخرون (2003). "In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys". Am. J. Pathol. ج. 163 ع. 1: 145–55. DOI:10.1016/S0002-9440(10)63638-3. PMC:1868155. PMID:12819019.
- Bergman O، Híkansson A، Westberg L، وآخرون (2009). "Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?". J Neural Transm. ج. 116 ع. 3: 333–8. DOI:10.1007/s00702-009-0187-z. PMID:19189040.
- Park S، Jamshidi Y، Vaideanu D، وآخرون (2009). "Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes". Invest. Ophthalmol. Vis. Sci. ج. 50 ع. 4: 1522–30. DOI:10.1167/iovs.08-2483. PMID:18952915.
- Harendza S، Stahl RA، Schneider A (2009). "The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism". Cell. Mol. Biol. Lett. ج. 14 ع. 4: 679–91. DOI:10.2478/s11658-009-0026-0. PMID:19562271.
- Mishima Y، Lindgren AG، Chizhikov VV، وآخرون (2009). "Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth". J. Neurosci. ج. 29 ع. 36: 11377–84. DOI:10.1523/JNEUROSCI.0969-09.2009. PMC:2765661. PMID:19741143.
- Bongers EM، Huysmans FT، Levtchenko E، وآخرون (2005). "Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy". Eur. J. Hum. Genet. ج. 13 ع. 8: 935–46. DOI:10.1038/sj.ejhg.5201446. PMID:15928687.
- Fuchs J، Mueller JC، Lichtner P، وآخرون (2009). "The transcription factor PITX3 is associated with sporadic Parkinson's disease". Neurobiol. Aging. ج. 30 ع. 5: 731–8. DOI:10.1016/j.neurobiolaging.2007.08.014. PMID:17905480.
- Finsterer J، Stöllberger C (2003). "LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient". Eur. Neurol. ج. 49 ع. 3: 186–7. DOI:10.1159/000069078. PMID:12646768.
- Marini M، Bongers EM، Cusano R، وآخرون (2003). "Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome". Int. J. Mol. Med. ج. 12 ع. 1: 79–82. DOI:10.3892/ijmm.12.1.79. PMID:12792813.
- Balci S، Engiz O (2007). "Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis". Genet. Couns. ج. 18 ع. 2: 259–62. PMID:17710881.