Recombinant Human LIM homeobox transcription factor 1-beta (LMX1B)

1. Study reports two additional families with 18 affected individuals with nail patella-like renal disease (NPLRD). The predominant LMX1B mutation is the previously reported R246Q mutation. PMID: 28059119
2. Study identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. PMID: 29290531
3. 9q33.3q34.11 microdeletion including LMX1b gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. PMID: 26395556
4. Report progression of autosomal dominant renal-limited disease with LMX1B mutation. PMID: 26560070
5. 38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity. PMID: 25898926
6. these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons PMID: 25915474
7. A heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with nail patella syndrome, is reported. PMID: 25380522
8. Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events. PMID: 24720768
9. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes PMID: 24477276
10. LMX1B is a novel oncogene in ovarian cancer pathogenesis. PMID: 24056967
11. this study identified two novel mutations of the LMX1B gene in three unrelated families with autosomaldominant Focal Segmental Glomerulosclerosis and no extrarenal features. PMID: 23687361
12. LMX1B is important in regulating type IV collagen gene expression in the GBM of the developing kidney and also has a likely role in regulating additional genes important in podocyte function and maintenance PMID: 23046462
13. Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report. PMID: 21901133
14. c.194 A>C (Q65P) mutation is present in the LMX1B gene of the Chilean patients with nail-patella syndrome associated with glaucoma. PMID: 21850167
15. effect of lmx1b on gene expression regulation in the brain PMID: 21246047
16. The co-occurrence of nail-patella syndrome, attention deficit hyperactivity disorder and major depressive disorder may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function. PMID: 21184584
17. Genetic variation in LMX1B may increase the risk of developing schizophrenia. PMID: 20570600
18. LMX1B mutations is associated with Nail-Patella syndrome. PMID: 20531206
19. novel mutations in patients with nail patella syndrome PMID: 11668639
20. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. PMID: 11956244
21. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes PMID: 11956245
22. Review. Lmx1b is a homeodomain transcription factor required for glomerular basement membrane collagen expression by podocytes. Its absence in nail-patella syndrome causes abnormalities in many organ systems. PMID: 11978876
23. LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described PMID: 12646768
24. These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in nail-patella syndrome patients. PMID: 12819019
25. Single nucleotide polymorphisms in LMX1B gene is associated with nail dysplasia in the nail patella syndrome PMID: 15638822
26. This is the first study indicating that family history of nephropathy and mutation location might be important in precipitating individual risks for developing NPS renal disease PMID: 15928687
27. Pathogenic mechanism resulting from the mutation is presumably haploinsufficiency rather than a dominant negative effect, which would explain the clinical variability in this family. PMID: 17515884
28. familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with no pathologic mutation in the LMX1B gene PMID: 17710881
29. The detection of two entire LMX1B gene deletions and one smaller exonic LMX1B deletion by multiplex ligation-dependent probe amplification (MLPA), is described. PMID: 18414507
30. study reports a novel LMX1B gene mutation c.368_369delTG, p.C123X in a Japanese girl with the typical nail changes of nail-patella syndrome; the proband's father carried the same mutation, although his fingernails were intact PMID: 18562181
31. a mutation in the LMX1B gene causes nail-patella syndrome in a Chinese population PMID: 18595794
32. Familial, genetic proved ((missense mutation -G599A (R200Q)of LMX1B gene))of nail patella syndrome in a mother and her son PMID: 18634531
33. LMX1B haplotypes influence susceptibility to glaucoma in the general population, suggesting altered LMX1B function predisposes to glaucomatous damage and that this role may be independent of raised intraocular pressure. PMID: 18952915
34. These data demonstrate for the first time that LMX1B directly regulates transcription of a subset of NF-kappaB target genes in cooperation with nuclear p50/p65 NF-kappaB. PMID: 18996370
35. podocin is specifically regulated by the transcription factor Lmx1b and by the functional polymorphism -116C/T. PMID: 19562271
36. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. PMID: 19721866

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HGNC: 6654

OMIM: 161200

KEGG: hsa:4010

STRING: 9606.ENSP00000347684

UniGene: Hs.129133