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Immunoglobulin mu binding protein 2

IGHMBP2, cardiac transcription factor, immunoglobulin mu-binding protein 2, SMARD1
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Nkx2.5, GATA4, HAD, AGE, CAN
Papers using IGHMBP2 antibodies
Papers on IGHMBP2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
New
Orlacchio et al., Roma, Italy. In Brain, Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
New
Teijeira et al., In Clin Neuropathol, Jan 2016
BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia.
A comprehensive gene expression analysis at sequential stages of in vitro cardiac differentiation from isolated MESP1-expressing-mesoderm progenitors.
New
Passier et al., Leiden, Netherlands. In Sci Rep, Dec 2015
We recently generated the dual cardiac fluorescent reporter MESP1(mCherry/w)NKX2-5(eGFP/w) line in human embryonic stem cells (hESCs), allowing the visualization of pre-cardiac MESP1+ mesoderm and their further commitment towards the cardiac lineage, marked by activation of the cardiac transcription factor NKX2-5.
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
Review
New
Corti et al., Milano, Italy. In J Cell Mol Med, Sep 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
The maternal-age-associated risk of congenital heart disease is modifiable.
New
Impact
Jay et al., Saint Louis, United States. In Nature, May 2015
The impact of maternal age on congenital heart disease can be modelled in mouse pups that harbour a mutation of the cardiac transcription factor gene Nkx2-5 (ref.
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.
New
Corti et al., Milano, Italy. In Sci Adv, Mar 2015
We report rescue of the disease phenotype in a SMARD1 mouse model after therapeutic delivery via systemic injection of an AAV9 construct encoding the wild-type IGHMBP2 to replace the defective gene.
Investigating the Mechanism of Hyperglycemia-Induced Fetal Cardiac Hypertrophy.
Liu et al., Guangzhou, China. In Plos One, 2014
Nkx2.5 immunofluorescent staining showed that the expression of Nkx2.5, a crucial cardiac transcription factor, was suppressed in the ventricular septum, left ventricular wall and right ventricular wall of E18.5, E15.5 and E13.5 mouse hearts.
The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.
Review
Corti et al., Milano, Italy. In J Neurol Sci, 2014
Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein.
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Review
Pu et al., Cambridge, United States. In Cold Spring Harb Perspect Med, 2014
In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4.
Heart field origin of great vessel precursors relies on nkx2.5-mediated vasculogenesis.
Impact
Burns et al., United States. In Nat Cell Biol, 2013
Further, we report that PAA endothelial differentiation relies on Nkx2.5, a canonical cardiac transcription factor not previously implicated in blood vessel formation.
Mesp1 patterns mesoderm into cardiac, hematopoietic, or skeletal myogenic progenitors in a context-dependent manner.
Impact
Kyba et al., Minneapolis, United States. In Cell Stem Cell, 2013
Mesp1 is regarded as the master regulator of cardiovascular development, initiating the cardiac transcription factor cascade to direct the generation of cardiac mesoderm.
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
GeneRIF
von Au et al., Berlin, Germany. In Pediatrics, 2012
mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity.
Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.
Review
De Luca et al., Messina, Italy. In Eur J Paediatr Neurol, 2012
SMARD 1 is inherited as an autosomal recessive trait and the mutations have been identified in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2), located on chromosome 11q13.
The distal hereditary motor neuropathies.
Review
Reilly et al., London, United Kingdom. In J Neurol Neurosurg Psychiatry, 2012
The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease.
Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.
GeneRIF
Tanuma et al., Noda, Japan. In Gene, 2010
Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells.
Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.
GeneRIF
Maxwell et al., Guangzhou, China. In Nephrol Dial Transplant, 2010
Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations.
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
GeneRIF
Fischer et al., Berlin, Germany. In Hum Mol Genet, 2009
IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients.
Interfamilial phenotypic heterogeneity in SMARD1.
GeneRIF
Wraige et al., London, United Kingdom. In Neuromuscul Disord, 2009
SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness.
A crucial role of a high mobility group protein HMGA2 in cardiogenesis.
Impact
Komuro et al., Tokyo, Japan. In Nat Cell Biol, 2008
Mechanistically, HMGA2 associated with Smad1/4 and showed synergistic trans-activation of the gene for a cardiac transcription factor Nkx2.5; a conserved HMGA2 binding site was required for the promoter activity of Nkx2.5 gene, both in P19CL6 cells and in transgenic Xenopus embryos.
Mutation in myosin heavy chain 6 causes atrial septal defect.
Impact
Brook et al., Nottingham, United Kingdom. In Nat Genet, 2005
The cardiac transcription factor TBX5 strongly regulates expression of MYH6, but mutant forms of TBX5, which cause Holt-Oram syndrome, do not.
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