MCID: SKL007
MIFTS: 31

Skeletal Muscle Regeneration malady

Category: Bone diseases

Aliases & Classifications for Skeletal Muscle Regeneration

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Aliases & Descriptions for Skeletal Muscle Regeneration:

Name: Skeletal Muscle Regeneration 69
Hereditary Inclusion Body Myopathy 69
 
Nonaka Myopathy 66

Classifications:



Summaries for Skeletal Muscle Regeneration

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MalaCards based summary: Skeletal Muscle Regeneration, also known as hereditary inclusion body myopathy, is related to hereditary inclusion body myopathy type 4 and muscular dystrophy. An important gene associated with Skeletal Muscle Regeneration is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways are Id Signaling Pathway and CDO in myogenesis. Affiliated tissues include skeletal muscle, heart and liver, and related mouse phenotypes are cardiovascular system and adipose tissue.

Related Diseases for Skeletal Muscle Regeneration

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Graphical network of the top 20 diseases related to Skeletal Muscle Regeneration:



Diseases related to skeletal muscle regeneration

Symptoms for Skeletal Muscle Regeneration

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Drugs & Therapeutics for Skeletal Muscle Regeneration

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Drugs for Skeletal Muscle Regeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
2insulinPhase 24401

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Exercise and Inhibition of Dipeptidyl Peptidase-4 on Insulin Secretion in Subjects With Type 1 DiabetesRecruitingNCT02127047Phase 2
2MYOHEART™ (Myogenesis Heart Efficiency and Regeneration Trial)Active, not recruitingNCT00054678Phase 1
3Influence of Non-steroidal Anti-inflammatory Drugs (NSAID) on Muscle RegenerationCompletedNCT00832663
4Protein Supplementation and Skeletal Muscle Healing ProcessCompletedNCT02816411
5Blood Flow, Muscle Regeneration and SarcopeniaCompletedNCT01035060
6The Effect of Remote Ischemic Preconditioning in Patients Undergoing Major Liver SurgeryEnrolling by invitationNCT00796588

Search NIH Clinical Center for Skeletal Muscle Regeneration

Genetic Tests for Skeletal Muscle Regeneration

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Anatomical Context for Skeletal Muscle Regeneration

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MalaCards organs/tissues related to Skeletal Muscle Regeneration:

34
Skeletal muscle, Heart, Liver, Endothelial, Bone, T cells, Monocytes

Animal Models for Skeletal Muscle Regeneration or affiliated genes

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MGI Mouse Phenotypes related to Skeletal Muscle Regeneration:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3ADAM12, CTNNB1, GNE, LIF, MYOD1
2MP:00053758.2ADAM12, AHNAK, LIF, MYOD1
3MP:00053697.9ADAM12, CTNNB1, DYSF, GNE, LIF, MYOD1

Publications for Skeletal Muscle Regeneration

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Articles related to Skeletal Muscle Regeneration:

(show top 50)    (show all 302)
idTitleAuthorsYear
1
Mitochondrial maintenance via autophagy contributes to functional skeletal muscle regeneration and remodeling. (27281480)
2016
2
BRE facilitates skeletal muscle regeneration by promoting satellite cell motility and differentiation. (26740569)
2016
3
Synthetic niche to modulate regenerative potential of MSCs and enhance skeletal muscle regeneration. (27235995)
2016
4
Myogenic differentiation potential of human tonsil-derived mesenchymal stem cells and their potential for use to promote skeletal muscle regeneration. (27035161)
2016
5
MicroRNA-155 facilitates skeletal muscle regeneration by balancing pro- and anti-inflammatory macrophages. (27277683)
2016
6
FOXO1 delays skeletal muscle regeneration and suppresses myoblast proliferation. (27010781)
2016
7
Neuraminidase-1 mediates skeletal muscle regeneration. (26001931)
2015
8
Poly(3,4-ethylenedioxythiophene) Nanoparticle and Poly(I/-caprolactone) Electrospun Scaffold Characterization for Skeletal Muscle Regeneration. (25855940)
2015
9
Inflammation during skeletal muscle regeneration and tissue remodeling-application to exercise-induced muscle damage management. (26526620)
2015
10
Monocyte/macrophage-derived IGF-1 orchestrates murine skeletal muscle regeneration and modulates autocrine polarization. (25896247)
2015
11
PEDF-derived peptide promotes skeletal muscle regeneration through its mitogenic effect on muscle progenitor cells. (26040897)
2015
12
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
13
Altered macrophage phenotype transition impairs skeletal muscle regeneration. (24525152)
2014
14
Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation. (25303869)
2014
15
Cellular players in skeletal muscle regeneration. (24779022)
2014
16
Monocyte/macrophage interactions with myogenic precursor cells during skeletal muscle regeneration. (23384231)
2013
17
Myeloid hypoxia-inducible factor-1I+ is essential for skeletal muscle regeneration in mice. (23729446)
2013
18
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration. (23577150)
2013
19
The time course effects of electroacupuncture on promoting skeletal muscle regeneration and inhibiting excessive fibrosis after contusion in rabbits. (23990848)
2013
20
Sonic Hedgehog Therapy in a Mouse Model of Age-Associated Impairment of Skeletal Muscle Regeneration. (23781099)
2013
21
Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. (23155423)
2012
22
Lack of Smad3 signaling leads to impaired skeletal muscle regeneration. (22535746)
2012
23
Loss of STAT1 in bone marrow-derived cells accelerates skeletal muscle regeneration. (22649549)
2012
24
Sca-1 influences the innate immune response during skeletal muscle regeneration. (21123737)
2011
25
Macrophage-specific expression of urokinase-type plasminogen activator promotes skeletal muscle regeneration. (21709151)
2011
26
Sphingosine 1-phosphate signaling is involved in skeletal muscle regeneration. (20042733)
2010
27
Sca-1 expression is required for efficient remodeling of the extracellular matrix during skeletal muscle regeneration. (19059231)
2009
28
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. (19401296)
2009
29
Sonic hedgehog regulates angiogenesis and myogenesis during post-natal skeletal muscle regeneration. (18662193)
2009
30
Delayed angiogenesis and VEGF production in CCR2-/- mice during impaired skeletal muscle regeneration. (17522124)
2007
31
Modulation of insulin-like growth factor (IGF)-I and IGF-binding protein interactions enhances skeletal muscle regeneration and ameliorates the dystrophic pathology in mdx mice. (17823291)
2007
32
VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice. (17575261)
2007
33
Type I insulin-like growth factor receptor signaling in skeletal muscle regeneration and hypertrophy. (17947802)
2007
34
Beta-catenin overexpression augments angiogenesis and skeletal muscle regeneration through dual mechanism of vascular endothelial growth factor-mediated endothelial cell proliferation and progenitor cell mobilization. (16254206)
2006
35
Nonthermal ultrasound and exercise in skeletal muscle regeneration. (16003655)
2005
36
Direct isolation of satellite cells for skeletal muscle regeneration. (16141372)
2005
37
Mice deficient in plasminogen activator inhibitor-1 have improved skeletal muscle regeneration. (15716324)
2005
38
The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy. (15847639)
2005
39
Sox15 is required for skeletal muscle regeneration. (15367664)
2004
40
Skeletal muscle regeneration and Trypanosoma cruzi-induced myositis in rats. (14702175)
2004
41
Mitochondrial biogenesis during skeletal muscle regeneration. (11882500)
2002
42
A role of tensin in skeletal-muscle regeneration. (11389681)
2001
43
The host environment determines strain-specific differences in the timing of skeletal muscle regeneration: cross-transplantation studies between SJL/J and BALB/c mice. (9449077)
1997
44
The potential role of insulin-like growth factors in skeletal muscle regeneration. (8853466)
1996
45
The role of basic fibroblast growth factor in skeletal muscle regeneration. (1591017)
1992
46
The effect of X-irradiation on skeletal muscle regeneration in the adult rat. (3572447)
1987
47
Skeletal muscle regeneration. (7017402)
1981
48
Choline acetyltransferase and cholinesterase in skeletal muscle regeneration. (1123632)
1975
49
Metabolic studies of skeletal muscle regeneration. (4474085)
1974
50
A histological and histochemical study of skeletal muscle regeneration in polymyositis. (5444895)
1970

Variations for Skeletal Muscle Regeneration

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Clinvar genetic disease variations for Skeletal Muscle Regeneration:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNENM_001128227.2(GNE): c.2228T> C (p.Met743Thr)single nucleotide variantPathogenicrs28937594GRCh37Chr 9, 36217396: 36217396
2GNENM_005476.5(GNE): c.2086G> A (p.Val696Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908627GRCh37Chr 9, 36217445: 36217445
3GNENM_001128227.2(GNE): c.830G> A (p.Arg277Gln)single nucleotide variantPathogenicrs121908629GRCh37Chr 9, 36236861: 36236861
4GNENM_005476.5(GNE): c.1714G> C (p.Val572Leu)single nucleotide variantPathogenicrs121908632GRCh37Chr 9, 36219937: 36219937
5GNENM_001128227.2(GNE): c.1985C> T (p.Ala662Val)single nucleotide variantPathogenicrs62541771GRCh37Chr 9, 36218221: 36218221

Expression for genes affiliated with Skeletal Muscle Regeneration

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Search GEO for disease gene expression data for Skeletal Muscle Regeneration.

Pathways for genes affiliated with Skeletal Muscle Regeneration

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Pathways related to Skeletal Muscle Regeneration according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5CTNNB1, MYOD1
2
Show member pathways
9.5CTNNB1, MYOD1
39.4CTNNB1, LIF

GO Terms for genes affiliated with Skeletal Muscle Regeneration

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Cellular components related to Skeletal Muscle Regeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1costamereGO:00430349.0AHNAK, AHNAK2
2T-tubuleGO:00303158.9AHNAK, AHNAK2, DYSF
3sarcolemmaGO:00423838.3AHNAK, AHNAK2, DYSF

Biological processes related to Skeletal Muscle Regeneration according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1myoblast fusionGO:000752010.2ADAM12, MYOD1
2regulation of RNA splicingGO:00434849.9AHNAK, MYOD1
3myoblast differentiationGO:00454459.9CTNNB1, MYOD1
4positive regulation of muscle cell differentiationGO:00511499.9CTNNB1, MYOD1
5regulation of cell differentiationGO:00455959.8CTNNB1, LIF
6plasma membrane repairGO:00017789.7AHNAK2, DYSF
7positive regulation of MAPK cascadeGO:00434109.6CTNNB1, LIF
8stem cell population maintenanceGO:00198279.4CTNNB1, LIF
9cell adhesionGO:00071558.9ADAM12, CTNNB1, GNE

Molecular functions related to Skeletal Muscle Regeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear hormone receptor bindingGO:00352579.5CTNNB1, MYOD1

Sources for Skeletal Muscle Regeneration

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet