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Search results 1 to 100 out of 123 for Smchd1

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0.038s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Domain
Type: Family
Description: SMCHD1 plays roles in X-chromosome inactivation, imprinting and double-strand break repair. Mutations in the SMCHD1 gene have been linked to Facioscapulohumeral dystrophy. Its N-terminal half contains a GHKL (gyrase, Hsp90, histidine kinase, MutL) ATPase motif, whereas its C terminus contains an SMC (structural maintenance of chromosomes) domain homologous to that found in cohesins and condensins, which has DNA-binding activity and provides an interface for homodimerization [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Lemmers RJ
Year: 2012
Journal: Nat Genet
Title: Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Volume: 44
Issue: 12
Pages: 1370-4
Publication
First Author: Leong HS
Year: 2013
Journal: Cancer Res
Title: Epigenetic regulator Smchd1 functions as a tumor suppressor.
Volume: 73
Issue: 5
Pages: 1591-9
Publication
First Author: Chen K
Year: 2016
Journal: Biochem J
Title: The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.
Volume: 473
Issue: 12
Pages: 1733-44
Publication
First Author: de Greef JC
Year: 2018
Journal: Hum Mol Genet
Title: Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
Volume: 27
Issue: 4
Pages: 716-731
Publication
First Author: Gdula MR
Year: 2019
Journal: Nat Commun
Title: The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome.
Volume: 10
Issue: 1
Pages: 30
Publication
First Author: Brideau NJ
Year: 2015
Journal: Mol Cell Biol
Title: Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.
Volume: 35
Issue: 23
Pages: 4053-68
Publication
First Author: Chen K
Year: 2016
Journal: Biochem J
Title: The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration.
Volume: 473
Issue: 6
Pages: 733-42
Protein
Organism: Mus musculus
Length: 2007  
Fragment?: false
Publication
First Author: Gendrel AV
Year: 2013
Journal: Mol Cell Biol
Title: Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes.
Volume: 33
Issue: 16
Pages: 3150-65
Publication  
First Author: Sakakibara Y
Year: 2018
Journal: Development
Title: Role of SmcHD1 in establishment of epigenetic states required for the maintenance of the X-inactivated state in mice.
Volume: 145
Issue: 18
Publication
First Author: Roberts AR
Year: 2011
Journal: Chromosoma
Title: Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo.
Volume: 120
Issue: 4
Pages: 377-85
Publication  
First Author: Liu R
Year: 2016
Journal: Genom Data
Title: Transcriptional profiling of the epigenetic regulator Smchd1.
Volume: 7
Pages: 144-7
Publication
First Author: Chen K
Year: 2015
Journal: Proc Natl Acad Sci U S A
Title: Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation.
Volume: 112
Issue: 27
Pages: E3535-44
Publication
First Author: Midic U
Year: 2018
Journal: Mol Reprod Dev
Title: Novel key roles for structural maintenance of chromosome flexible domain containing 1 (Smchd1) during preimplantation mouse development.
Volume: 85
Issue: 7
Pages: 635-648
Publication
First Author: Blewitt ME
Year: 2008
Journal: Nat Genet
Title: SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Volume: 40
Issue: 5
Pages: 663-9
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:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: false
Specimen Num: 12
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: false
Specimen Num: 11
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: false
Specimen Num: 10
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: false
Specimen Num: 9
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6155672
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155697
Age: embryonic day 12.5
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: false
Specimen Num: 12
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: false
Specimen Num: 11
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: false
Specimen Num: 10
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Absent
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: false
Specimen Num: 9
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Male
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6155676
Assay Type: Western blot
Annotation Date: 2018-05-11
Strength: Present
Sex: Female
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:6155684
Age: embryonic day 12.5
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Absent
Sex: Male
Emaps: EMAPS:1797020
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: false
Specimen Num: 1
GXD Expression
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:3087020
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8340
Note: signal is weak relative to the primary sex cord
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1736620
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8340
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1796820
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1797220
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2010-12-30
Strength: Present
Sex: Male
Emaps: EMAPS:1797220
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:4849744
Age: embryonic day 12.5
Note: Although expression is found in the testis cords, no expression is found at the gonad-mesonephros border on the gonad side.
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Absent
Sex: Male
Emaps: EMAPS:1797320
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Absent
Sex: Male
Emaps: EMAPS:2914820
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2913820
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2010-12-30
Strength: Present
Sex: Male
Emaps: EMAPS:2913820
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:4849744
Age: embryonic day 12.5
Note: Expression is present at the gonad-mesonephros border on the mesonephric side.
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Absent
Sex: Male
Emaps: EMAPS:2915820
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Absent
Sex: Male
Emaps: EMAPS:1868720
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2010-12-30
Strength: Absent
Sex: Male
Emaps: EMAPS:1868720
Stage: TS20
Assay Id: MGI:4849744
Age: embryonic day 12.5
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:1737920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8340
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2909820
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2010-12-30
Strength: Present
Sex: Male
Emaps: EMAPS:2909820
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:4849744
Age: embryonic day 12.5
Detected: true
Specimen Num: 1
GXD Expression
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2014-02-07
Strength: Present
Sex: Male
Emaps: EMAPS:2914320
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8339
Note: weak signal
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:4845996
Assay Type: RNA in situ
Annotation Date: 2010-12-30
Strength: Present
Sex: Male
Emaps: EMAPS:2914320
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:4849744
Age: embryonic day 12.5
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3233872
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Pattern: Ubiquitous
Stage: TS23
Assay Id: MGI:4828328
Age: embryonic day 14.5
Image: euxassay_008416_16
Detected: true
Specimen Num: 1
Publication
First Author: Blewitt ME
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse.
Volume: 102
Issue: 21
Pages: 7629-34
Publication
First Author: Delbridge ARD
Year: 2019
Journal: Cell Rep
Title: Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects.
Volume: 27
Issue: 2
Pages: 442-454.e5
Publication
First Author: Daxinger L
Year: 2013
Journal: Genome Biol
Title: An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse.
Volume: 14
Issue: 9
Pages: R96
Publication      
First Author: Toronto Centre for Phenogenomics
Year: 2013
Journal: MGI Direct Data Submission
Title: Strains and alleles submitted by Toronto Centre for Phenogenomics (NorCOMM2, funded by Genome Canada and Ontario Genomics Institute OGI-051).
Publication
First Author: Combes AN
Year: 2009
Journal: Dev Dyn
Title: Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development.
Volume: 238
Issue: 5
Pages: 1033-41
Publication
First Author: Okazaki N
Year: 2003
Journal: DNA Res
Title: Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
Volume: 10
Issue: 4
Pages: 167-80
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: 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: GUDMAP Consortium
Year: 2004
Journal: www.gudmap.org
Title: GUDMAP: the GenitoUrinary Development Molecular 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: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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: 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: 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