Type |
Details |
Score |
Publication |
First Author: |
Díaz-Manera J |
Year: |
2010 |
Journal: |
Cell Death Dis |
Title: |
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. |
Volume: |
1 |
|
Pages: |
e61 |
|
•
•
•
•
•
|
Publication |
First Author: |
Farini A |
Year: |
2012 |
Journal: |
Exp Cell Res |
Title: |
Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model. |
Volume: |
318 |
Issue: |
10 |
Pages: |
1160-74 |
|
•
•
•
•
•
|
Publication |
First Author: |
White Z |
Year: |
2021 |
Journal: |
Front Physiol |
Title: |
Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions. |
Volume: |
12 |
|
Pages: |
675322 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kostek CA |
Year: |
2002 |
Journal: |
Am J Pathol |
Title: |
Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. |
Volume: |
160 |
Issue: |
3 |
Pages: |
833-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Urao N |
Year: |
2017 |
Journal: |
Hum Mol Genet |
Title: |
Thrombospondin-1 and disease progression in dysferlinopathy. |
Volume: |
26 |
Issue: |
24 |
Pages: |
4951-4960 |
|
•
•
•
•
•
|
Publication |
First Author: |
Uaesoontrachoon K |
Year: |
2013 |
Journal: |
J Pathol |
Title: |
The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. |
Volume: |
231 |
Issue: |
2 |
Pages: |
199-209 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kombairaju P |
Year: |
2014 |
Journal: |
Front Physiol |
Title: |
Genetic silencing of Nrf2 enhances X-ROS in dysferlin-deficient muscle. |
Volume: |
5 |
|
Pages: |
57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Evans S |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling. |
Volume: |
10 |
Issue: |
1 |
Pages: |
14129 |
|
•
•
•
•
•
|
Publication |
First Author: |
Defour A |
Year: |
2017 |
Journal: |
Hum Mol Genet |
Title: |
Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. |
Volume: |
26 |
Issue: |
11 |
Pages: |
1979-1991 |
|
•
•
•
•
•
|
Publication |
First Author: |
McDade JR |
Year: |
2021 |
Journal: |
FEBS J |
Title: |
Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle. |
Volume: |
288 |
Issue: |
1 |
Pages: |
160-174 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lemckert FA |
Year: |
2016 |
Journal: |
Cardiovasc Res |
Title: |
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. |
Volume: |
110 |
Issue: |
2 |
Pages: |
178-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Urao N |
Year: |
2016 |
Journal: |
Neuromuscul Disord |
Title: |
Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient mice. |
Volume: |
26 |
Issue: |
3 |
Pages: |
240-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hogarth MW |
Year: |
2019 |
Journal: |
Nat Commun |
Title: |
Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B. |
Volume: |
10 |
Issue: |
1 |
Pages: |
2430 |
|
•
•
•
•
•
|
Publication |
First Author: |
Demonbreun AR |
Year: |
2011 |
Journal: |
Hum Mol Genet |
Title: |
Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. |
Volume: |
20 |
Issue: |
4 |
Pages: |
779-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hernández-Deviez DJ |
Year: |
2006 |
Journal: |
Hum Mol Genet |
Title: |
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. |
Volume: |
15 |
Issue: |
1 |
Pages: |
129-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Di Fulvio S |
Year: |
2011 |
Journal: |
PLoS One |
Title: |
Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. |
Volume: |
6 |
Issue: |
12 |
Pages: |
e28563 |
|
•
•
•
•
•
|
Publication |
First Author: |
McDade JR |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin. |
Volume: |
23 |
Issue: |
7 |
Pages: |
1677-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Barton ER |
Year: |
2019 |
Journal: |
Muscle Nerve |
Title: |
Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. |
Volume: |
60 |
Issue: |
4 |
Pages: |
464-473 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cai C |
Year: |
2009 |
Journal: |
J Biol Chem |
Title: |
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. |
Volume: |
284 |
Issue: |
23 |
Pages: |
15894-902 |
|
•
•
•
•
•
|
Publication |
First Author: |
Quattrocelli M |
Year: |
2019 |
Journal: |
JCI Insight |
Title: |
Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming. |
Volume: |
4 |
Issue: |
24 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Rawat R |
Year: |
2010 |
Journal: |
Am J Pathol |
Title: |
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle. |
Volume: |
176 |
Issue: |
6 |
Pages: |
2891-900 |
|
•
•
•
•
•
|
Publication |
First Author: |
Han R |
Year: |
2010 |
Journal: |
J Clin Invest |
Title: |
Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice. |
Volume: |
120 |
Issue: |
12 |
Pages: |
4366-74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Barzilai-Tutsch H |
Year: |
2018 |
Journal: |
Hum Mol Genet |
Title: |
A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice. |
Volume: |
27 |
Issue: |
16 |
Pages: |
2817-2829 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nagaraju K |
Year: |
2008 |
Journal: |
Am J Pathol |
Title: |
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. |
Volume: |
172 |
Issue: |
3 |
Pages: |
774-85 |
|
•
•
•
•
•
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Publication |
First Author: |
Kanagawa M |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. |
Volume: |
9 |
Issue: |
9 |
Pages: |
e106721 |
|
•
•
•
•
•
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Publication |
First Author: |
Ma J |
Year: |
2017 |
Journal: |
Mol Ther Methods Clin Dev |
Title: |
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. |
Volume: |
7 |
|
Pages: |
123-131 |
|
•
•
•
•
•
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Publication |
First Author: |
Guha TK |
Year: |
2019 |
Journal: |
Mol Ther Methods Clin Dev |
Title: |
Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy. |
Volume: |
15 |
|
Pages: |
294-304 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kubozono K |
Year: |
2020 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα. |
Volume: |
529 |
Issue: |
3 |
Pages: |
720-725 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lin P |
Year: |
2012 |
Journal: |
FASEB J |
Title: |
Nonmuscle myosin IIA facilitates vesicle trafficking for MG53-mediated cell membrane repair. |
Volume: |
26 |
Issue: |
5 |
Pages: |
1875-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon NJ |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. |
Volume: |
278 |
Issue: |
50 |
Pages: |
50466-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sher RB |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. |
Volume: |
281 |
Issue: |
8 |
Pages: |
4938-48 |
|
•
•
•
•
•
|
Publication |
First Author: |
Spector I |
Year: |
2013 |
Journal: |
Am J Pathol |
Title: |
The involvement of collagen triple helix repeat containing 1 in muscular dystrophies. |
Volume: |
182 |
Issue: |
3 |
Pages: |
905-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pines M |
Year: |
2017 |
Journal: |
Am J Pathol |
Title: |
Elevated Expression of Moesin in Muscular Dystrophies. |
Volume: |
187 |
Issue: |
3 |
Pages: |
654-664 |
|
•
•
•
•
•
|
Publication |
First Author: |
Winter L |
Year: |
2022 |
Journal: |
Life Sci Alliance |
Title: |
Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome. |
Volume: |
5 |
Issue: |
11 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Burzyn D |
Year: |
2013 |
Journal: |
Cell |
Title: |
A special population of regulatory T cells potentiates muscle repair. |
Volume: |
155 |
Issue: |
6 |
Pages: |
1282-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim M |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells. |
Volume: |
11 |
Issue: |
1 |
Pages: |
6375 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lostal W |
Year: |
2019 |
Journal: |
Sci Transl Med |
Title: |
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A. |
Volume: |
11 |
Issue: |
520 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Sharma A |
Year: |
2010 |
Journal: |
Arterioscler Thromb Vasc Biol |
Title: |
A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis. |
Volume: |
30 |
Issue: |
11 |
Pages: |
2196-204 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matsuda C |
Year: |
2008 |
Journal: |
FEBS Lett |
Title: |
Affixin activates Rac1 via betaPIX in C2C12 myoblast. |
Volume: |
582 |
Issue: |
8 |
Pages: |
1189-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Beedle AM |
Year: |
2007 |
Journal: |
J Biol Chem |
Title: |
Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. |
Volume: |
282 |
Issue: |
23 |
Pages: |
16713-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Barnabei MS |
Year: |
2012 |
Journal: |
PLoS One |
Title: |
Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts. |
Volume: |
7 |
Issue: |
3 |
Pages: |
e32880 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kravtsova VV |
Year: |
2020 |
Journal: |
Am J Physiol Cell Physiol |
Title: |
Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models of myodystrophy. |
Volume: |
318 |
Issue: |
5 |
Pages: |
C1030-C1041 |
|
•
•
•
•
•
|
Publication |
First Author: |
Burr AR |
Year: |
2014 |
Journal: |
Mol Cell Biol |
Title: |
Na+ dysregulation coupled with Ca2+ entry through NCX1 promotes muscular dystrophy in mice. |
Volume: |
34 |
Issue: |
11 |
Pages: |
1991-2002 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rouillon J |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. |
Volume: |
24 |
Issue: |
17 |
Pages: |
4916-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Turk R |
Year: |
2006 |
Journal: |
FASEB J |
Title: |
Common pathological mechanisms in mouse models for muscular dystrophies. |
Volume: |
20 |
Issue: |
1 |
Pages: |
127-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Laure L |
Year: |
2009 |
Journal: |
FEBS J |
Title: |
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. |
Volume: |
276 |
Issue: |
3 |
Pages: |
669-84 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cowling BS |
Year: |
2017 |
Journal: |
J Clin Invest |
Title: |
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. |
Volume: |
127 |
Issue: |
12 |
Pages: |
4477-4487 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shaw CA |
Year: |
2006 |
Journal: |
Am J Pathol |
Title: |
Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. |
Volume: |
169 |
Issue: |
6 |
Pages: |
2148-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Heydemann A |
Year: |
2007 |
Journal: |
Biochim Biophys Acta |
Title: |
Genetic modifiers of muscular dystrophy: implications for therapy. |
Volume: |
1772 |
Issue: |
2 |
Pages: |
216-28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Azakir BA |
Year: |
2010 |
Journal: |
PLoS One |
Title: |
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. |
Volume: |
5 |
Issue: |
4 |
Pages: |
e10122 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tran V |
Year: |
2022 |
Journal: |
Nat Commun |
Title: |
Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration. |
Volume: |
13 |
Issue: |
1 |
Pages: |
7077 |
|
•
•
•
•
•
|
Publication |
First Author: |
Reynolds JO |
Year: |
2013 |
Journal: |
Cardiovasc Res |
Title: |
Junctophilin-2 is necessary for T-tubule maturation during mouse heart development. |
Volume: |
100 |
Issue: |
1 |
Pages: |
44-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sharma P |
Year: |
2015 |
Journal: |
Nat Commun |
Title: |
Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. |
Volume: |
6 |
|
Pages: |
8391 |
|
•
•
•
•
•
|
Publication |
First Author: |
Prokic I |
Year: |
2020 |
Journal: |
Dis Model Mech |
Title: |
Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bhattacharyya S |
Year: |
2016 |
Journal: |
Sci Rep |
Title: |
Endocytic recycling protein EHD1 regulates primary cilia morphogenesis and SHH signaling during neural tube development. |
Volume: |
6 |
|
Pages: |
20727 |
|
•
•
•
•
•
|
Publication |
First Author: |
Karatsai O |
Year: |
2023 |
Journal: |
Biochim Biophys Acta Mol Basis Dis |
Title: |
Unconventional myosin VI in the heart: Involvement in cardiac dysfunction progressing with age. |
Volume: |
1869 |
Issue: |
6 |
Pages: |
166748 |
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cobellis G |
Year: |
2005 |
Journal: |
Nucleic Acids Res |
Title: |
Tagging genes with cassette-exchange sites. |
Volume: |
33 |
Issue: |
4 |
Pages: |
e44 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from The Jackson Laboratory, Bar Harbor, ME |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
RIKEN Data Curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
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: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
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: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
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: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
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 |
|
•
•
•
•
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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 |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Publication |
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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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 |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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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). |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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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 |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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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 |
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Allele |
Name: |
dysferlin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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DO Term |
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Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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Allele |
Name: |
transgene insertion 3, Kevin P Campbell |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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Strain |
Attribute String: |
mutant strain, transgenic, congenic |
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Publication |
First Author: |
Campbell K |
Year: |
2011 |
Journal: |
MGI Direct Data Submission |
Title: |
Direct Data Submission 2010/12/22 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
140
 |
Fragment?: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
67
 |
Fragment?: |
true |
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Protein Domain |
Type: |
Family |
Description: |
Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF []. |
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Publication |
First Author: |
O'Leary TP |
Year: |
2020 |
Journal: |
Genes Brain Behav |
Title: |
Age-related deterioration of motor function in male and female 5xFAD mice from 3 to 16 months of age. |
Volume: |
19 |
Issue: |
3 |
Pages: |
e12538 |
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