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LIM homeobox transcription factor 1, beta

Lmx1b
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: Nail, LIM, CAN, Nurr1, PTX3
Papers on Lmx1b
Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
New
Bone Mineral Density in Childhood Study BMDCS et al., Copenhagen, Denmark. In Hum Mol Genet, Feb 2016
In total, 15 loci reached genome-wide significance (P-value < 5 × 10(-8)) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity.
Generation of functional human serotonergic neurons from fibroblasts.
New
Gage et al., Los Angeles, United States. In Mol Psychiatry, Jan 2016
FEV, GATA2 and LMX1B in combination with ASCL1 and NGN2 directly and efficiently generated serotonergic neurons from human fibroblasts.
Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.
Review
New
Lévesque et al., Québec, Canada. In Febs Lett, Jan 2016
LIM-HD Lmx1a and Lmx1b orchestrate complex temporal and spatial gene expression of the dopaminergic pathway, and evidence shows they are also involved in adult neuronal homeostasis.
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
New
Nunoi et al., Miyazaki, Japan. In Nephrology (carlton), Dec 2015
AIM: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder.
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
New
Al-Sannaa et al., Dhahran, Saudi Arabia. In J Cutan Med Surg, Nov 2015
It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q.
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
New
Faivre et al., Dijon, France. In Eur J Hum Genet, Oct 2015
including the STXBP1, the LMX1B and the ENG genes.
Potential signal pathway between all-trans retinoic acid and LMX1B in hypoxia-induced renal tubular epithelial cell injury.
New
Zhang et al., Guangzhou, China. In J Recept Signal Transduct Res, Jul 2015
LMX1B, a developmental LIM-homeodomain transcription factor, is widely expressed in vertebrate embryos, and it takes part in the development of diverse structures such as limbs, kidneys, eyes, brains, etc. Renal tubular epithelial cell culture was performed, and mRNA and protein expression of some factors were detected.
[Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome].
Review
Wang et al., Changzhou, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2014
Among the identified genes mutated in podocytes include NPHS2, NPHS1, WT1, TRPC6, MDR1, PLCE1, LMX1B, and LAMB2.
Nail-patella syndrome-a novel mutation in the LMX1B gene.
Vimala et al., Cochin, India. In Clin Kidney J, 2013
In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala).
The signaling pathways of LMX1B and its role in glomerulosclerosis.
Review
Qin et al., Qujing, China. In J Recept Signal Transduct Res, 2012
LMX1B, a developmental LIM-homeodomain transcription factor, is widely expressed in vertebrate embryos, and it takes part in the development of diverse structures such as limbs, kidneys, eyes, brains, etc. LMX1B contributes to transcriptional regulation of glomerular basement membrane (GBM) collagen expression by podocytes.
Detection of genes regulated by Lmx1b during limb dorsalization.
GeneRIF
Oberg et al., Loma Linda, United States. In Dev Growth Differ, 2012
Lmx1b genes are associated with skeletal development.
Collagen Type III Glomerulopathies.
Review
Cohen, Los Angeles, United States. In Adv Chronic Kidney Dis, 2012
It is owing to mutations in the gene LMX1B.
The transcription factor, Lmx1b, promotes a neuronal glutamate phenotype and suppresses a GABA one in the embryonic trigeminal brainstem complex.
GeneRIF
Chen et al., Saint Louis, United States. In Somatosens Mot Res, 2011
This study demonistrated that Lmx1b promotes a neuronal glutamate phenotype and suppresses a GABA one in the embryonic trigeminal brainstem complex
Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors.
GeneRIF
Ang et al., London, United Kingdom. In J Neurosci, 2011
This study demonstrated that Lmx1a and Lmx1b function cooperatively to regulate proliferation, specification, and differentiation of mDA progenitors, including their floor plate-like properties.
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
GeneRIF
Herrera et al., Santiago, Chile. In Mol Vis, 2010
c.194 A>C (Q65P) mutation is present in the LMX1B gene of the Chilean patients with nail-patella syndrome associated with glaucoma.
Association of transcription factor gene LMX1B with autism.
GeneRIF
Mori et al., Hamamatsu, Japan. In Plos One, 2010
Data report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report.
Nail-Patella Syndrome
Review
McIntosh et al., Seattle, United States. In Unknown Journal, 2003
LMX1B is the only gene in which pathogenic variants are known to cause NPS.
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
Impact
Lee et al., Houston, United States. In Nat Genet, 2001
Nail patella syndrome (NPS) is caused by mutations in LMX1B, encoding a LIM homeodomain transcription factor.
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
Impact
Lee et al., Houston, United States. In Nat Genet, 1998
The LIM-homeodomain protein Lmx1b plays a central role in dorso-ventral patterning of the vertebrate limb.
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
Impact
Johnson et al., Houston, United States. In Nat Genet, 1998
Dorsal-ventral limb patterning in vertebrates is thought to be controlled by the LIM-homeodomain protein Lmx1b which is expressed in a spatially and temporally restricted manner along the dorsal-ventral limb axis.
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