Property Summary

NCBI Gene PubMed Count 58
PubMed Score 170.94
PubTator Score 109.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
lung carcinoma 1.100 1.3e-18
psoriasis -1.300 5.4e-36

 OMIM Phenotype (1)

Gene RIF (42)

PMID Text
26526610 Lmx1a and Lmx1b expression persists in mature dopaminergic neurons of the substantia nigra pars compacta and the ventral tegmental area. [Review]
25915474 these results reveal a sustained and essential requirement of Lmx1b for the function of midbrain dopamine neurons
25898926 38 different LMX1B polymorphisms have been found in 55 families with Nail-Patella Syndrome raising the hypothesis of a genetic heterogeneity.
25380522 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.
24720768 Results demonstrate that loss of function may not be the only way that mutated LMX1b causes haploinsufficiency. Mutated LMX1b may interfere withdownsteam transcription events.
24477276 In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes
24056967 LMX1B is a novel oncogene in ovarian cancer pathogenesis.
23687361 this study identified two novel mutations of the LMX1B gene in three unrelated families with autosomaldominant Focal Segmental Glomerulosclerosis and no extrarenal features.
23046462 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
21901133 Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
21850167 c.194 A>C (Q65P) mutation is present in the LMX1B gene of the Chilean patients with nail-patella syndrome associated with glaucoma.
21246047 effect of lmx1b on gene expression regulation in the brain
21184584 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.
20643727 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20583170 Observational study of gene-disease association. (HuGE Navigator)
20570600 Genetic variation in LMX1B may increase the risk of developing schizophrenia.
20570600 Observational study of gene-disease association. (HuGE Navigator)
20531206 LMX1B mutations is associated with Nail-Patella syndrome.
19721866 A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
19562271 podocin is specifically regulated by the transcription factor Lmx1b and by the functional polymorphism -116C/T.
19189040 Data show that three single nucleotide polymor in LMX1A and one in LMX1B are associated with Parkinson's disease.
19189040 Observational study of gene-disease association. (HuGE Navigator)
18996370 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.
18952915 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.
18952915 Observational study of gene-disease association. (HuGE Navigator)
18634531 Familial, genetic proved ((missense mutation -G599A (R200Q)of LMX1B gene))of nail patella syndrome in a mother and her son
18595794 a mutation in the LMX1B gene causes nail-patella syndrome in a Chinese population
18562181 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
18414507 The detection of two entire LMX1B gene deletions and one smaller exonic LMX1B deletion by multiplex ligation-dependent probe amplification (MLPA), is described.
17905480 Observational study of gene-disease association. (HuGE Navigator)
17728669 Observational study of gene-disease association. (HuGE Navigator)
17710881 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
17515884 Pathogenic mechanism resulting from the mutation is presumably haploinsufficiency rather than a dominant negative effect, which would explain the clinical variability in this family.
15928687 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
15638822 Single nucleotide polymorphisms in LMX1B gene is associated with nail dysplasia in the nail patella syndrome
12819019 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.
12646768 LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described
11978876 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.
11956245 The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
11956244 Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation.
11668639 novel mutations in patients with nail patella syndrome

AA Sequence

MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMR      1 - 70
VNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGC     71 - 140
FCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSG    141 - 210
DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARR    211 - 280
HQQQQEQQNSQRLGQEVLSSRMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPY    281 - 350
GNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS                      351 - 402
//

Text Mined References (60)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26526610 2015 Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.
25915474 2015 Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease.
25898926 2016 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
25416956 2014 A proteome-scale map of the human interactome network.
25380522 2014 A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
24720768 2014 Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.
24564958 2014 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
24477276 2014 Combined TSC1 and LMX1B mutations in a single patient.
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
24399192 2014 Differentiation of human epidermal neural crest stem cells (hEPI-NCSC) into virtually homogenous populations of dopaminergic neurons.
24056967 2014 Identification of LMX1B as a novel oncogene in human ovarian cancer.
23687361 2013 LMX1B mutations cause hereditary FSGS without extrarenal involvement.
23046462 2012 The signaling pathways of LMX1B and its role in glomerulosclerosis.
21901133 2011 Association of transcription factor gene LMX1B with autism.
21850167 2011 c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
21246047 2011 Adult raphe-specific deletion of Lmx1b leads to central serotonin deficiency.
21184584 2011 Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.
20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20570600 2010 Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia.
20531206 2010 A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
19721866 2009 A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
19562271 2009 The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.
19189040 2009 Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?
18996370 2009 The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes.
18952915 2009 Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.
18634531 2006 [The nail-patella syndrome: rare genetically determined cause of proteinuria].
18595794 2008 A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.
18562181 2008 A novel LMX1B nonsense mutation in a family with nail-patella syndrome.
18414507 2008 Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
17905480 2009 The transcription factor PITX3 is associated with sporadic Parkinson's disease.
17728669 2007 Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits.
17710881 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.
17515884 2007 Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15928687 2005 Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
15638822 2005 Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.
15498463 2004 The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
12819019 2003 In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
12792813 2003 Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
12646768 2003 LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11978876 2002 Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes.
11956245 2002 The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
11956244 2002 Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation.
11668639 2001 Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
10854116 2000 Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
10767331 2000 LMX1B transactivation and expression in nail-patella syndrome.
10571942 1999 Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
9837817 1998 Mutation analysis of LMX1B gene in nail-patella syndrome patients.
9618165 1998 Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
9590288 1998 Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
9590287 1998 Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
9441763 1997 Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9.
9199284 1997 Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity.