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Search results 101 to 148 out of 148 for Mmachc

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Type Details Score
Publication
18614015 | J:151002
First Author: Pagliarini DJ
Year: 2008
Journal: Cell
Title: A mitochondrial protein compendium elucidates complex I disease biology.
Volume: 134
Issue: 1
Pages: 112-23
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Publication
17967808 | J:152068
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
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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
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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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
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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
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Publication
- | J:78475
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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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
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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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
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Publication
- | J:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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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
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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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
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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
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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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
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Allele
Mmachc<tm1Smoc> | MGI:7786905
Name: methylmalonic aciduria cblC type, with homocystinuria; targeted mutation 1, Shanghai Model Organisms Center
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Strain
MGI:7788745 | C57BL/6JSmoc-Mmachc<tm1Smoc>/Smoc
Attribute String: coisogenic, mutant strain, targeted mutation
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Allele
Tg(CAG-Mmachc,-GFP)1Poche | MGI:6491446
Name: transgene insertion 1, Ross Poche
Allele Type: Transgenic
Attribute String: Inserted expressed sequence, Reporter
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Strain
MGI:6491474 | C57BL/6J-Tg(CAG-Mmachc,-GFP)1Poche
Attribute String: coisogenic, mutant strain, transgenic
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Genotype
Genotype
Symbol: Tg(CAG-Mmachc,-GFP)1Poche/?
Background: C57BL/6J-Tg(CAG-Mmachc,-GFP)1Poche
Zygosity: ot
Has Mutant Allele: true
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HT Experiment
GSE161763 | CblX disease is both an inborn error of cobalamin metabolism and a ribosomopathy
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Genotype
Genotype
Symbol: Tg(CAG-Mmachc,-GFP)1Poche/? Hcfc1/?
Background: involves: C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Protein
Q99LS1
Organism: Mus musculus/domesticus
Length: 296  
Fragment?: false
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Protein
A2AQT7
Organism: Mus musculus/domesticus
Length: 219  
Fragment?: true
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Protein
A2AQT8
Organism: Mus musculus/domesticus
Length: 179  
Fragment?: true
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Publication
18385497 | -
First Author: Coelho D
Year: 2008
Journal: N Engl J Med
Title: Gene identification for the cblD defect of vitamin B12 metabolism.
Volume: 358
Issue: 14
Pages: 1454-64
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Publication
24722857 | -
First Author: Jusufi J
Year: 2014
Journal: J Inherit Metab Dis
Title: Characterization of functional domains of the cblD (MMADHC) gene product.
Volume: 37
Issue: 5
Pages: 841-9
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Publication
26364851 | -
First Author: Yamada K
Year: 2015
Journal: J Biol Chem
Title: Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Volume: 290
Issue: 49
Pages: 29155-66
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Publication
23415655 | -
First Author: Gherasim C
Year: 2013
Journal: Biochimie
Title: The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Volume: 95
Issue: 5
Pages: 1023-32
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Protein Domain
IPR019362 | MMADHC
Type: Family
Description: This entry represents methylmalonic aciduria and homocystinuria type D protein (also known as cobalamin trafficking protein CblD) and homologues. These proteins are involved in cobalamin (vitamin B12) metabolism and trafficking [, , , ]CblD plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) [, , ]. It also promotes the oxidation of cob(II)alamin bound to MMACHC [].
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Publication
31905202 | J:285140
First Author: Dehaene H
Year: 2020
Journal: PLoS One
Title: THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Volume: 15
Issue: 1
Pages: e0224646
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Strain
MGI:6491476 | C57BL/6-Mmachc<tm1.1(NCOM)Mfgc> Tg(CAG-Mmachc,-GFP)1Poche
Attribute String: transgenic, targeted mutation, mutant strain, coisogenic
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Genotype
Genotype
Symbol: Mmachc/Mmachc Tg(CAG-Mmachc,-GFP)1Poche/?
Background: C57BL/6-Mmachc Tg(CAG-Mmachc,-GFP)1Poche
Zygosity: cx
Has Mutant Allele: true
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