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Search results 1 to 74 out of 74 for Ahdc1

0.024s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Domain
Type: Family
Description: AT-hook DNA-binding motif-containing protein 1 (AHDC1) is uncharacterized, but truncating mutations in the gene lead to mental retardation, autosomal dominant 25 (MRD25). Patients suffered hypotonia, intellectual disability, global developmental delay, mildly dysmorphic facial features and in some cases sleep apnea [].
Publication
First Author: Xia F
Year: 2014
Journal: Am J Hum Genet
Title: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Volume: 94
Issue: 5
Pages: 784-9
Protein
Organism: Mus musculus
Length: 1594  
Fragment?: false
Publication
First Author: Quintero-Rivera F
Year: 2015
Journal: Hum Mol Genet
Title: MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Volume: 24
Issue: 8
Pages: 2375-89
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1640519
Stage: TS19
Assay Id: MGI:5696265
Age: embryonic day 11.5
Image: 3
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1640524
Stage: TS24
Assay Id: MGI:5696265
Age: embryonic day 16.5
Image: 3
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1640527
Stage: TS27
Assay Id: MGI:5696265
Age: postnatal newborn
Image: 3
Detected: false
Specimen Num: 9
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610519
Stage: TS19
Assay Id: MGI:5696265
Age: embryonic day 11.5
Image: 3
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610524
Stage: TS24
Assay Id: MGI:5696265
Age: embryonic day 16.5
Image: 3
Detected: false
Specimen Num: 5
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:5696265
Age: postnatal newborn
Image: 3
Detected: false
Specimen Num: 8
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610519
Stage: TS19
Assay Id: MGI:5696266
Age: embryonic day 11.5
Image: 3
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610521
Stage: TS21
Assay Id: MGI:5696266
Age: embryonic day 13.5
Image: 3
Detected: false
Specimen Num: 3
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610522
Stage: TS22
Assay Id: MGI:5696266
Age: embryonic day 14.5
Image: 3
Detected: false
Specimen Num: 4
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610524
Stage: TS24
Assay Id: MGI:5696266
Age: embryonic day 16.5
Image: 3
Detected: false
Specimen Num: 5
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:5696266
Age: postnatal newborn
Image: 3
Detected: false
Specimen Num: 6
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:5696266
Age: postnatal adult
Image: 3
Detected: false
Specimen Num: 7
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689419
Stage: TS19
Assay Id: MGI:5696265
Age: embryonic day 11.5
Image: 3
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689424
Stage: TS24
Assay Id: MGI:5696265
Age: embryonic day 16.5
Image: 3
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:5696264
Assay Type: RT-PCR
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689427
Stage: TS27
Assay Id: MGI:5696265
Age: postnatal newborn
Image: 3
Detected: false
Specimen Num: 10
GXD Expression    
Probe: MGI:5696267
Assay Type: RNA in situ
Annotation Date: 2015-11-17
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610519
Stage: TS19
Assay Id: MGI:5696270
Age: embryonic day 11.5
Image: 3B
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:5696267
Assay Type: RNA in situ
Annotation Date: 2015-11-17
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1603919
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5696270
Age: embryonic day 11.5
Image: 3B
Detected: true
Specimen Num: 1
Publication
First Author: Schebelle L
Year: 2010
Journal: Nucleic Acids Res
Title: Efficient conditional and promoter-specific in vivo expression of cDNAs of choice by taking advantage of recombinase-mediated cassette exchange using FlEx gene traps.
Volume: 38
Issue: 9
Pages: e106
Publication
First Author: Osipovich AB
Year: 2005
Journal: Genome Res
Title: Post-entrapment genome engineering: first exon size does not affect the expression of fusion transcripts generated by gene entrapment.
Volume: 15
Issue: 3
Pages: 428-35
Publication
First Author: Araki K
Year: 1999
Journal: Cell Mol Biol (Noisy-le-grand)
Title: Exchangeable gene trap using the Cre/mutated lox system.
Volume: 45
Issue: 5
Pages: 737-50
Publication
First Author: Taniwaki T
Year: 2005
Journal: Dev Growth Differ
Title: Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette.
Volume: 47
Issue: 3
Pages: 163-72
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Function or Process or Component Unknown following Literature Review
Publication
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
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
Publication
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      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication
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
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
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
Publication
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
Publication          
First Author: MGD Nomenclature Committee
Year: 1995
Publication      
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
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
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      
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      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
DO Term