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Search results 1 to 100 out of 261 for Mtm1

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Type Details Score
Gene
4534 | MTM1
Type: gene
Organism: human
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Gene
465904 | MTM1
Type: gene
Organism: chimpanzee
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Gene
533622 | MTM1
Type: gene
Organism: cattle
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Gene
422388 | MTM1
Type: gene
Organism: chicken
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Gene
560881 | mtm1
Type: gene
Organism: zebrafish
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Gene
703131 | MTM1
Type: gene
Organism: macaque, rhesus
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Gene
548545 | mtm1
Type: gene
Organism: frog, western clawed
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Gene
612385 | MTM1
Type: gene
Organism: dog, domestic
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Gene
288762 | Mtm1
Type: gene
Organism: rat
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Protein Coding Gene
MGI:1099452 | Mtm1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
23390130 | J:194971
First Author: Joubert R
Year: 2013
Journal: Hum Mol Genet
Title: Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
Volume: 22
Issue: 9
Pages: 1856-66
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Publication
22068590 | J:179741
First Author: Pierson CR
Year: 2012
Journal: Hum Mol Genet
Title: Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Volume: 21
Issue: 4
Pages: 811-25
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Publication
24726641 | J:210955
First Author: Lawlor MW
Year: 2014
Journal: Am J Pathol
Title: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Volume: 184
Issue: 6
Pages: 1831-42
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Publication
23444364 | J:200663
First Author: Amoasii L
Year: 2013
Journal: J Cell Sci
Title: Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Volume: 126
Issue: Pt 8
Pages: 1806-19
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Publication
21135508 | J:171846
First Author: Hnia K
Year: 2011
Journal: J Clin Invest
Title: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Volume: 121
Issue: 1
Pages: 70-85
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Publication
23695157 | J:201107
First Author: Al-Qusairi L
Year: 2013
Journal: FASEB J
Title: Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Volume: 27
Issue: 8
Pages: 3384-94
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Publication
23307925 | J:194988
First Author: Lawlor MW
Year: 2013
Journal: Hum Mol Genet
Title: Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Volume: 22
Issue: 8
Pages: 1525-38
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Publication
23917616 | J:203880
First Author: Royer B
Year: 2013
Journal: EMBO Rep
Title: The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Volume: 14
Issue: 10
Pages: 907-15
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Allele
Tg(MtTPRMET)243Lng | MGI:3054048
Name: transgene insertion 243, T Jake Liang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Publication
23109424 | J:192845
First Author: Fetalvero KM
Year: 2013
Journal: Mol Cell Biol
Title: Defective autophagy and mTORC1 signaling in myotubularin null mice.
Volume: 33
Issue: 1
Pages: 98-110
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Publication
12391329 | J:81791
First Author: Buj-Bello A
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.
Volume: 99
Issue: 23
Pages: 15060-5
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Publication
23071445 | J:193729
First Author: Amoasii L
Year: 2012
Journal: PLoS Genet
Title: Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Volume: 8
Issue: 10
Pages: e1002965
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Publication
25087613 | J:230243
First Author: Agrawal PB
Year: 2014
Journal: Am J Hum Genet
Title: SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Volume: 95
Issue: 2
Pages: 218-26
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Publication
19846786 | J:154672
First Author: Al-Qusairi L
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Volume: 106
Issue: 44
Pages: 18763-8
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Publication
35694952 | J:334595
 
First Author: Sarikaya E
Year: 2022
Journal: Dis Model Mech
Title: Natural history of a mouse model of X-linked myotubular myopathy.
Volume: 15
Issue: 7
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Publication
33076971 | J:313503
First Author: Ross JA
Year: 2020
Journal: Acta Neuropathol Commun
Title: rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
Volume: 8
Issue: 1
Pages: 167
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Publication
27155155 | J:235466
First Author: Mansour R
Year: 2016
Journal: Biochem Biophys Res Commun
Title: Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Volume: 476
Issue: 3
Pages: 167-73
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Publication
28589938 | J:251686
 
First Author: Tasfaout H
Year: 2017
Journal: Nat Commun
Title: Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
Volume: 8
Pages: 15661
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Publication
28934386 | J:250315
First Author: Raess MA
Year: 2017
Journal: Hum Mol Genet
Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Volume: 26
Issue: 19
Pages: 3736-3748
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Publication
24569376 | J:209721
First Author: Cowling BS
Year: 2014
Journal: J Clin Invest
Title: Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Volume: 124
Issue: 3
Pages: 1350-63
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Publication
36369230 | J:336523
First Author: Gómez-Oca R
Year: 2022
Journal: Nat Commun
Title: Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Volume: 13
Issue: 1
Pages: 6849
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Publication
30894500 | J:273116
 
First Author: Lionello VM
Year: 2019
Journal: Sci Transl Med
Title: Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Volume: 11
Issue: 484
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Publication
27548528 | J:237297
First Author: Sabha N
Year: 2016
Journal: J Clin Invest
Title: PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
Volume: 126
Issue: 9
Pages: 3613-25
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Publication
36943412 | J:341022
 
First Author: Massana-Muñoz X
Year: 2023
Journal: JCI Insight
Title: Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice.
Volume: 8
Issue: 9
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Publication
9736772 | J:62647
First Author: Laporte J
Year: 1998
Journal: Hum Mol Genet
Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Volume: 7
Issue: 11
Pages: 1703-12
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Protein Coding Gene
MGP_CAROLIEiJ_G0033128 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0035781 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0035764 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0035686 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0035751 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0035454 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1099452 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0036281 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0034746 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0035429 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0035582 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0035533 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0035671 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0035568 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0036302 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0034446 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0034888 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0031671 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0034282 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
12118066 | J:175210
First Author: Laporte J
Year: 2002
Journal: J Cell Sci
Title: The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Volume: 115
Issue: Pt 15
Pages: 3105-17
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Publication
22645112 | J:191352
First Author: Dowling JJ
Year: 2012
Journal: Dis Model Mech
Title: Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Volume: 5
Issue: 6
Pages: 852-9
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Publication
29192144 | J:255940
First Author: Mariot V
Year: 2017
Journal: Nat Commun
Title: Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Volume: 8
Issue: 1
Pages: 1859
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Publication
24452262 | J:213528
First Author: Childers MK
Year: 2014
Journal: Sci Transl Med
Title: Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Volume: 6
Issue: 220
Pages: 220ra10
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Publication
30451843 | J:267820
First Author: Gayi E
Year: 2018
Journal: Nat Commun
Title: Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Volume: 9
Issue: 1
Pages: 4848
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Publication
29358706 | J:337032
First Author: Gavriilidis C
Year: 2018
Journal: Nat Cell Biol
Title: The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle.
Volume: 20
Issue: 2
Pages: 198-210
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Publication
30451841 | J:268075
First Author: Maani N
Year: 2018
Journal: Nat Commun
Title: Tamoxifen therapy in a murine model of myotubular myopathy.
Volume: 9
Issue: 1
Pages: 4849
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Publication
14500759 | J:86856
First Author: Chaussade C
Year: 2003
Journal: Mol Endocrinol
Title: Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport.
Volume: 17
Issue: 12
Pages: 2448-60
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429149
Age: embryonic day 9.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429149
Age: embryonic day 9.5
Specimen Label: F +/+
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429149
Age: embryonic day 9.5
Specimen Label: M D1/D1
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7429149
Age: embryonic day 9.5
Specimen Label: M +/+
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429169
Age: embryonic day 10.5
Specimen Label: F D1/D1
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Female
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429169
Age: embryonic day 10.5
Specimen Label: F +/+
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429169
Age: embryonic day 10.5
Specimen Label: M D1/D1
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
     
Probe: MGI:7429113
Assay Type: RT-PCR
Annotation Date: 2023-01-30
Strength: Present
Sex: Male
Emaps: EMAPS:1603917
Stage: TS17
Assay Id: MGI:7429169
Age: embryonic day 10.5
Specimen Label: M +/+
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:2061166
Assay Type: RNA in situ
Annotation Date: 2007-03-21
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1618914
Pattern: Not Specified
Stage: TS14
Assay Id: MGI:3700532
Age: embryonic day 9.0
Note: A cyclical expression pattern could not be validated.
Specimen Label: None
Detected: true
Specimen Num: 1
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Publication
21281811 | J:169075
First Author: Lawlor MW
Year: 2011
Journal: Am J Pathol
Title: Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Volume: 178
Issue: 2
Pages: 784-93
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Publication
22841819 | J:188703
First Author: Lawlor MW
Year: 2012
Journal: Am J Pathol
Title: Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Volume: 181
Issue: 3
Pages: 961-8
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Publication
18454193 | J:149432
First Author: Zhang Y
Year: 2008
Journal: PLoS Genet
Title: Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements.
Volume: 4
Issue: 2
Pages: e1000007
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Publication
- | J:24000
     
First Author: Mouse Chromosome Committee
Year: 1995
Journal: Personal Communication
Title: Personal Communication to Mouse Chromosome Committee
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Publication
19436707 | J:149430
First Author: Concepcion D
Year: 2009
Journal: PLoS Genet
Title: Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing.
Volume: 5
Issue: 5
Pages: e1000484
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Publication
18434328 | J:136876
First Author: Buj-Bello A
Year: 2008
Journal: Hum Mol Genet
Title: AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Volume: 17
Issue: 14
Pages: 2132-43
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Publication
18425126 | J:142334
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
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Publication
32994313 | J:298043
     
First Author: Prokic I
Year: 2020
Journal: Dis Model Mech
Title: Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration.
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Publication
17095659 | J:116164
First Author: Dequéant ML
Year: 2006
Journal: Science
Title: A complex oscillating network of signaling genes underlies the mouse segmentation clock.
Volume: 314
Issue: 5805
Pages: 1595-8
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Publication
19898483 | J:155594
First Author: Lu BC
Year: 2009
Journal: Nat Genet
Title: Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.
Volume: 41
Issue: 12
Pages: 1295-302
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Publication
- | J:72400
       
First Author: Mouse Genome Sequence and Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Mouse Genome Sequence Project Annotation
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
- | J:82809
     
First Author: European Mouse Mutant Archive
Year: 2003
Journal: Unpublished
Title: Information obtained from the European Mouse Mutant Archive (EMMA)
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Publication
- | J:68100
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
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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:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
- | J:326541
       
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
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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: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
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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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
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
21677750 | J:173534
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
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
- | J:60000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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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:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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