|  Help  |  About  |  Contact Us

Search our database by keyword

- or -

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 62 out of 62 for Ighmbp2

Category restricted to Publication (x)

0.044s

Categories

Category: Publication
« show all
Type Details Score
Publication
19158098 | J:146154
First Author: Guenther UP
Year: 2009
Journal: Hum Mol Genet
Title: IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Volume: 18
Issue: 7
Pages: 1288-300
•
•
•
•
•
Publication
15069027 | J:90418
First Author: Maddatu TP
Year: 2004
Journal: Hum Mol Genet
Title: Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.
Volume: 13
Issue: 11
Pages: 1105-15
•
•
•
•
•
Publication
22965130 | J:314557
First Author: Lim SC
Year: 2012
Journal: Nucleic Acids Res
Title: The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Volume: 40
Issue: 21
Pages: 11009-22
•
•
•
•
•
Publication
19299493 | J:148546
First Author: de Planell-Saguer M
Year: 2009
Journal: Hum Mol Genet
Title: Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
Volume: 18
Issue: 12
Pages: 2115-26
•
•
•
•
•
Publication
15269181 | J:92862
First Author: Grohmann K
Year: 2004
Journal: Hum Mol Genet
Title: Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Volume: 13
Issue: 18
Pages: 2031-42
•
•
•
•
•
Publication
11528396 | J:71530
First Author: Grohmann K
Year: 2001
Journal: Nat Genet
Title: Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Volume: 29
Issue: 1
Pages: 75-7
•
•
•
•
•
Publication
16174646 | J:102748
First Author: Maddatu TP
Year: 2005
Journal: Hum Mol Genet
Title: Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.
Volume: 14
Issue: 21
Pages: 3179-89
•
•
•
•
•
Publication
11106437 | J:66270
First Author: Miao M
Year: 2000
Journal: Eur J Biochem
Title: The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein.
Volume: 267
Issue: 24
Pages: 7237-46
•
•
•
•
•
Publication
34726235 | J:326540
First Author: Smith CE
Year: 2022
Journal: Hum Mol Genet
Title: The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Volume: 31
Issue: 8
Pages: 1293-1307
•
•
•
•
•
Publication
26601156 | J:288092
First Author: Nizzardo M
Year: 2015
Journal: Sci Adv
Title: Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.
Volume: 1
Issue: 2
Pages: e1500078
•
•
•
•
•
Publication
36413117 | J:337488
First Author: Martin PB
Year: 2023
Journal: Hum Mol Genet
Title: Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Volume: 32
Issue: 8
Pages: 1276-1288
•
•
•
•
•
Publication
29272405 | J:256997
First Author: Villalón E
Year: 2018
Journal: Hum Mol Genet
Title: Selective vulnerability in neuronal populations in nmd/SMARD1 mice.
Volume: 27
Issue: 4
Pages: 679-690
•
•
•
•
•
Publication
29928949 | J:265077
 
First Author: Surrey V
Year: 2018
Journal: Neuroscience
Title: Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
Volume: 386
Pages: 24-40
•
•
•
•
•
Publication
23295857 | J:197642
 
First Author: Krieger F
Year: 2013
Journal: Neurobiol Dis
Title: Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ.
Volume: 54
Pages: 169-82
•
•
•
•
•
Publication
8493094 | J:4973
First Author: Mizuta TR
Year: 1993
Journal: Nucleic Acids Res
Title: Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences.
Volume: 21
Issue: 8
Pages: 1761-6
•
•
•
•
•
Publication
31256932 | J:291805
First Author: Villalón E
Year: 2019
Journal: Biochem Biophys Res Commun
Title: Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1.
Volume: 516
Issue: 1
Pages: 313-319
•
•
•
•
•
Publication
15888478 | J:99795
First Author: Ruiz R
Year: 2005
Journal: Hum Mol Genet
Title: Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice.
Volume: 14
Issue: 13
Pages: 1825-37
•
•
•
•
•
Publication
15358184 | J:91301
First Author: Uchiumi F
Year: 2004
Journal: Biochem Biophys Res Commun
Title: Characterization of Smubp-2 as a mouse mammary tumor virus promoter-binding protein.
Volume: 321
Issue: 2
Pages: 355-63
•
•
•
•
•
Publication
7767002 | J:22796
First Author: Sebastiani G
Year: 1995
Journal: Mamm Genome
Title: Localization of the Catf1 transcription factor gene to mouse chromosome 19.
Volume: 6
Issue: 2
Pages: 147-8
•
•
•
•
•
Publication
7665561 | J:28757
First Author: Shieh SY
Year: 1995
Journal: J Biol Chem
Title: Molecular characterization of the rat insulin enhancer-binding complex 3b2. Cloning of a binding factor with putative helicase motifs.
Volume: 270
Issue: 37
Pages: 21503-8
•
•
•
•
•
Publication
7613514 | J:23643
First Author: Tanner A
Year: 1995
Journal: Cell Biol Int
Title: Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9.
Volume: 19
Issue: 1
Pages: 71-5
•
•
•
•
•
Publication
10087069 | J:53928
First Author: Cooper JD
Year: 1999
Journal: J Neurosci
Title: Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment.
Volume: 19
Issue: 7
Pages: 2556-67
•
•
•
•
•
Publication
10709991 | J:61295
First Author: Scimeca JC
Year: 2000
Journal: Bone
Title: The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.
Volume: 26
Issue: 3
Pages: 207-13
•
•
•
•
•
Publication
7749225 | J:23584
First Author: Cook SA
Year: 1995
Journal: Mamm Genome
Title: Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration.
Volume: 6
Issue: 3
Pages: 187-91
•
•
•
•
•
Publication
9883726 | J:51890
First Author: Cox GA
Year: 1998
Journal: Neuron
Title: Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.
Volume: 21
Issue: 6
Pages: 1327-37
•
•
•
•
•
Publication
12917329 | J:85091
First Author: Matsuoka TA
Year: 2003
Journal: Mol Cell Biol
Title: Members of the large Maf transcription family regulate insulin gene transcription in islet beta cells.
Volume: 23
Issue: 17
Pages: 6049-62
•
•
•
•
•
Publication
19741192 | J:154181
First Author: Zhang B
Year: 2009
Journal: Blood
Title: Repulsive axon guidance molecule Slit3 is a novel angiogenic factor.
Volume: 114
Issue: 19
Pages: 4300-9
•
•
•
•
•
Publication
10527800 | J:58176
First Author: Elliott JL
Year: 1999
Journal: Neurobiol Dis
Title: Experimental models of amyotrophic lateral sclerosis.
Volume: 6
Issue: 5
Pages: 310-20
•
•
•
•
•
Publication
8861101 | J:32832
First Author: Kaestner KH
Year: 1996
Journal: Mech Dev
Title: Expression of the winged helix genes fkh-4 and fkh-5 defines domains in the central nervous system.
Volume: 55
Issue: 2
Pages: 221-30
•
•
•
•
•
Publication
22988430 | J:190636
 
First Author: Wiese CB
Year: 2012
Journal: Front Neurosci
Title: A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract.
Volume: 6
Pages: 130
•
•
•
•
•
Publication
- | J:237616
     
First Author: MGI and IMPC
Year: 2017
Journal: MGI Direct Data Submission
Title: MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
•
•
•
•
•
Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
•
•
•
•
•
Publication
- | J:94790
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Mouse Synonym Curation
•
•
•
•
•
Publication
12904583 | J:85162
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
•
•
•
•
•
Publication
15618518 | J:91257
First Author: Gray PA
Year: 2004
Journal: Science
Title: Mouse brain organization revealed through direct genome-scale TF expression analysis.
Volume: 306
Issue: 5705
Pages: 2255-7
•
•
•
•
•
Publication
14681479 | J:122989
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
•
•
•
•
•
Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
•
•
•
•
•
Publication
- | J:171409
     
First Author: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Molecular Anatomy Project
•
•
•
•
•
Publication
- | J:72247
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
•
•
•
•
•
Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
•
•
•
•
•
Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
•
•
•
•
•
Publication
- | J:155856
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
•
•
•
•
•
Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
•
•
•
•
•
Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
•
•
•
•
•
Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
•
•
•
•
•
Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
•
•
•
•
•
Publication
- | J:164563
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
•
•
•
•
•
Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
•
•
•
•
•
Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
•
•
•
•
•
Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
•
•
•
•
•
Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
•
•
•
•
•
Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
•
•
•
•
•
Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
•
•
•
•
•
Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
•
•
•
•
•
Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
•
•
•
•
•
Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
•
•
•
•
•
Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
•
•
•
•
•
Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
•
•
•
•
•
Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
•
•
•
•
•
Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
•
•
•
•
•
Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
•
•
•
•
•
Publication
9341218 | -
First Author: Biswas EE
Year: 1997
Journal: Biochemistry
Title: Yeast DNA helicase A: cloning, expression, purification, and enzymatic characterization.
Volume: 36
Issue: 43
Pages: 13277-84
•
•
•
•
•




MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom