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Search results 1 to 100 out of 181 for Smchd1

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
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: mouse, laboratory
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: Jansz N
Year: 2018
Journal: Nat Struct Mol Biol
Title: Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters.
Volume: 25
Issue: 9
Pages: 766-777
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: Benetti N
Year: 2022
Journal: Nat Commun
Title: Maternal SMCHD1 regulates Hox gene expression and patterning in the mouse embryo.
Volume: 13
Issue: 1
Pages: 4295
Publication
First Author: Wanigasuriya I
Year: 2022
Journal: Epigenetics Chromatin
Title: Maternal SMCHD1 controls both imprinted Xist expression and imprinted X chromosome inactivation.
Volume: 15
Issue: 1
Pages: 26
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
Protein
Organism: Mus musculus/domesticus
Length: 87  
Fragment?: true
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: Jansz N
Year: 2018
Journal: Cell Rep
Title: Smchd1 Targeting to the Inactive X Is Dependent on the Xist-HnrnpK-PRC1 Pathway.
Volume: 25
Issue: 7
Pages: 1912-1923.e9
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: Tapia Del Fierro A
Year: 2023
Journal: Nat Commun
Title: SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Volume: 14
Issue: 1
Pages: 5466
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
Publication
First Author: Wang CY
Year: 2019
Journal: Genetics
Title: Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.
Volume: 213
Issue: 2
Pages: 685-703
Publication  
First Author: Ichihara S
Year: 2022
Journal: Development
Title: SmcHD1 underlies the formation of H3K9me3 blocks on the inactive X chromosome in mice.
Volume: 149
Issue: 15
Protein
Organism: Mus musculus/domesticus
Length: 2007  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 119  
Fragment?: true
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: Ruebel ML
Year: 2019
Journal: Am J Physiol Cell Physiol
Title: SMCHD1 terminates the first embryonic genome activation event in mouse two-cell embryos and contributes to a transcriptionally repressive state.
Volume: 317
Issue: 4
Pages: C655-C664
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: Wanigasuriya I
Year: 2020
Journal: Elife
Title: Smchd1 is a maternal effect gene required for genomic imprinting.
Volume: 9
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: Liu R
Year: 2016
Journal: Genom Data
Title: Transcriptional profiling of the epigenetic regulator Smchd1.
Volume: 7
Pages: 144-7
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
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
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
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
Specimen Label: F
Detected: true
Specimen Num: 1
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
Specimen Label: F
Detected: true
Specimen Num: 2
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
Specimen Label: M
Detected: true
Specimen Num: 3
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
Specimen Label: M
Detected: true
Specimen Num: 4
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
Specimen Label: F
Detected: true
Specimen Num: 5
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
Specimen Label: F
Detected: true
Specimen Num: 6
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
Specimen Label: M
Detected: true
Specimen Num: 7
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
Specimen Label: M
Detected: true
Specimen Num: 8
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
Specimen Label: F
Detected: false
Specimen Num: 9
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
Specimen Label: F
Detected: false
Specimen Num: 10
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
Specimen Label: M
Detected: false
Specimen Num: 11
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
Specimen Label: M
Detected: false
Specimen Num: 12
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
Specimen Label: F
Detected: true
Specimen Num: 1
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
Specimen Label: F
Detected: true
Specimen Num: 2
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
Specimen Label: M
Detected: true
Specimen Num: 3
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
Specimen Label: M
Detected: true
Specimen Num: 4
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
Specimen Label: F
Detected: true
Specimen Num: 5
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
Specimen Label: F
Detected: true
Specimen Num: 6
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
Specimen Label: M
Detected: true
Specimen Num: 7
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
Specimen Label: M
Detected: true
Specimen Num: 8
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
Specimen Label: F
Detected: false
Specimen Num: 9
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
Specimen Label: F
Detected: false
Specimen Num: 10
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
Specimen Label: M
Detected: false
Specimen Num: 11
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
Specimen Label: M
Detected: false
Specimen Num: 12
GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360354
Stage: TS04
Assay Id: MGI:6457358
Age: embryonic day 3.5
Image: 4
Specimen Label: Cdx2
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360355
Stage: TS05
Assay Id: MGI:6457362
Age: embryonic day 4.25
Image: 4
Specimen Label: Cdx2
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360354
Stage: TS04
Assay Id: MGI:6457358
Age: embryonic day 3.5
Image: 4
Specimen Label: non-mutant
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:6457353
Assay Type: RT-PCR
Annotation Date: 2020-09-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360355
Stage: TS05
Assay Id: MGI:6457362
Age: embryonic day 4.25
Image: 4
Specimen Label: non-mutant
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F D1/+
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: F +/+
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: M D1/D1
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: M D1/+
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429140
Age: embryonic day 10.5
Specimen Label: M +/+
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429161
Age: embryonic day 9.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429161
Age: embryonic day 9.5
Specimen Label: F +/+
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429161
Age: embryonic day 9.5
Specimen Label: M D1/D1
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429161
Age: embryonic day 9.5
Specimen Label: M +/+
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429174
Age: embryonic day 10.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429174
Age: embryonic day 10.5
Specimen Label: F +/+
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429174
Age: embryonic day 10.5
Specimen Label: M D1/D1
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7429104
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429174
Age: embryonic day 10.5
Specimen Label: M +/+
Detected: true
Specimen Num: 4
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
Specimen Label: 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:1737920
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5540807
Age: embryonic day 12.5
Image: GUDMAP:8340
Specimen Label: GUDMAP:8340
Detected: true
Specimen Num: 2