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Search results 1 to 100 out of 111 for Dhcr7

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0.048s
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
Publication
First Author: Yu H
Year: 2005
Journal: Brain Res Dev Brain Res
Title: Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression.
Volume: 156
Issue: 1
Pages: 46-60
Publication
First Author: Tint GS
Year: 2006
Journal: J Lipid Res
Title: The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols.
Volume: 47
Issue: 7
Pages: 1535-41
Publication  
First Author: Yu H
Year: 2007
Journal: BMC Dev Biol
Title: Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.
Volume: 7
Pages: 27
Publication
First Author: Correa-Cerro LS
Year: 2005
Journal: Mol Genet Metab
Title: 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Volume: 84
Issue: 2
Pages: 112-26
Publication
First Author: Fitzky BU
Year: 1998
Journal: Proc Natl Acad Sci U S A
Title: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Volume: 95
Issue: 14
Pages: 8181-6
Publication
First Author: Waage-Baudet H
Year: 2003
Journal: Int J Dev Neurosci
Title: Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.
Volume: 21
Issue: 8
Pages: 451-9
Publication
First Author: Blassberg R
Year: 2016
Journal: Hum Mol Genet
Title: Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Volume: 25
Issue: 4
Pages: 693-705
Publication
First Author: Matabosch X
Year: 2009
Journal: J Steroid Biochem Mol Biol
Title: Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Volume: 116
Issue: 1-2
Pages: 61-70
Publication
First Author: Serra M
Year: 2010
Journal: J Steroid Biochem Mol Biol
Title: Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome.
Volume: 122
Issue: 5
Pages: 318-25
Publication
First Author: Fitzky BU
Year: 2001
Journal: J Clin Invest
Title: 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Volume: 108
Issue: 6
Pages: 905-15
Publication
First Author: Matabosch X
Year: 2010
Journal: J Steroid Biochem Mol Biol
Title: Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
Volume: 122
Issue: 5
Pages: 303-9
Publication
First Author: Correa-Cerro LS
Year: 2006
Journal: Hum Mol Genet
Title: Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
Volume: 15
Issue: 6
Pages: 839-51
Publication
First Author: Solcà C
Year: 2007
Journal: Mol Genet Metab
Title: Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.
Volume: 91
Issue: 1
Pages: 7-14
Publication
First Author: Waage-Baudet H
Year: 2005
Journal: Dev Neurosci
Title: Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.
Volume: 27
Issue: 6
Pages: 378-96
Publication
First Author: Jiang XS
Year: 2010
Journal: Hum Mol Genet
Title: Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.
Volume: 19
Issue: 7
Pages: 1347-57
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
Publication
First Author: Wassif CA
Year: 2001
Journal: Hum Mol Genet
Title: Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Volume: 10
Issue: 6
Pages: 555-64
Publication
First Author: Patti GJ
Year: 2010
Journal: Neuroscience
Title: Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome.
Volume: 170
Issue: 3
Pages: 858-64
Publication
First Author: Kovarova M
Year: 2006
Journal: J Exp Med
Title: Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.
Volume: 203
Issue: 5
Pages: 1161-71
Publication
First Author: Xu L
Year: 2012
Journal: Neurobiol Dis
Title: DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.
Volume: 45
Issue: 3
Pages: 923-9
Publication
First Author: Liu W
Year: 2014
Journal: J Lipid Res
Title: A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome.
Volume: 55
Issue: 2
Pages: 329-37
Publication
First Author: Xu L
Year: 2013
Journal: J Lipid Res
Title: Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.
Volume: 54
Issue: 4
Pages: 1135-43
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2852723
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2850023
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2762123
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1797223
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_24
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_23
Detected: true
Specimen Num: 12
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_04
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_03
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_02
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1859023
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_01
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2845723
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1832123
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2760523
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2769723
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_18
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_17
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_16
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_15
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_09
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_08
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:1060743
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1842623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4824296
Age: embryonic day 14.5
Image: euxassay_002715_07
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1869223
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2851823
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2853323
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5000837
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1795023
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5541396
Age: embryonic day 15.5
Image: GUDMAP:9301
Detected: true
Specimen Num: 1
Publication  
First Author: Yu H
Year: 2004
Journal: BMC Dev Biol
Title: Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome.
Volume: 4
Pages: 1
Protein
Organism: Mus musculus
Length: 471  
Fragment?: false
Publication
First Author: Gondré-Lewis MC
Year: 2006
Journal: J Cell Sci
Title: Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.
Volume: 119
Issue: Pt 9
Pages: 1876-85
Publication
First Author: Lindegaard ML
Year: 2008
Journal: Hum Mol Genet
Title: Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome.
Volume: 17
Issue: 23
Pages: 3806-13
Publication  
First Author: Gou-Fàbregas M
Year: 2016
Journal: Sci Rep
Title: 7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome.
Volume: 6
Pages: 28534
Publication
First Author: Nwokoro NA
Year: 2001
Journal: Mol Genet Metab
Title: Genetic disorders of cholesterol biosynthesis in mice and humans.
Volume: 74
Issue: 1-2
Pages: 105-19
Publication
First Author: Moy SS
Year: 2009
Journal: Genes Brain Behav
Title: Social approach in genetically engineered mouse lines relevant to autism.
Volume: 8
Issue: 2
Pages: 129-42
Publication
First Author: Hogenboom S
Year: 2002
Journal: J Lipid Res
Title: Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
Volume: 43
Issue: 1
Pages: 90-8
Publication
First Author: Sacchetti P
Year: 2009
Journal: Cell Stem Cell
Title: Liver X receptors and oxysterols promote ventral midbrain neurogenesis in vivo and in human embryonic stem cells.
Volume: 5
Issue: 4
Pages: 409-19
Publication
First Author: Şişecioğlu M
Year: 2015
Journal: J Lipid Res
Title: A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo.
Volume: 56
Issue: 8
Pages: 1551-9
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication
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      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication      
First Author: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Mhttps://www.facebase.org/mouseanatomy/olecular Anatomy Project
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: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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: 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: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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: 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      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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: 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: Mouse Genome Informatics, the Protein Information Resource and the Protein Ontology Consortium
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load
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 (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