MCID: SKL007
MIFTS: 32

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 71
Hereditary Inclusion Body Myopathy 71
 
Nonaka Myopathy 68

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 testis sarcoma. An important gene associated with Skeletal Muscle Regeneration is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways is miRs in Muscle Cell Differentiation. Affiliated tissues include skeletal muscle, liver and heart, and related mouse phenotypes are adipose tissue and cardiovascular system.

Related Diseases for Skeletal Muscle Regeneration

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Diseases related to Skeletal Muscle Regeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary inclusion body myopathy type 412.1
2testis sarcoma10.5DES, MYOD1
3breast rhabdomyosarcoma10.5DES, MYOD1
4gallbladder sarcoma10.5DES, MYOD1
5transitional papilloma10.5DES, MYOD1
6subacute leukemia10.5DES, MYOD1
7acquired night blindness10.5DES, MYOD1
8prostate rhabdomyosarcoma10.4DES, MYOD1
9fibrosarcoma10.4DES, MYOD1
10emerinopathy10.4DES, MYOD1
11omphalocele10.4DES, MYOD1
12orbit rhabdomyosarcoma10.4DES, MYOD1
13adult central nervous system primitive neuroectodermal neoplasm10.4DES, MYOD1
14vulvar sebaceous carcinoma10.4DES, MYOD1
15megarbane jalkh syndrome10.3DES, MYOD1
16spindle cell sarcoma10.2EZH2, MYOD1
173-methylglutaconic aciduria10.2ADAM12, LIF
18rhabdomyosarcoma 2, alveolar10.2DES, MYOD1
19multiple spinal canal and spinal cord meningioma10.1EZH2, LIF
20advanced sleep-phase syndrome, familial, 210.1DES, MYOD1
21muscular dystrophy10.0
22obesity10.0
23endotheliitis9.9
24leukemia9.8
25rhabdomyosarcoma9.8
26ischemia9.8
27myositis9.8
28non-syndromic intellectual disability9.8GNE, SQSTM1
29insulin-like growth factor i9.7
30myotonic dystrophy 19.7
31duchenne muscular dystrophy9.7
32inclusion body myositis9.7
33limb ischemia9.7
34tonsillitis9.7
35endometriosis9.7
36compartment syndrome9.7
37thyroiditis9.7
38myotonic dystrophy9.7
39dystrophinopathies9.7
40polymyositis9.7
41hypoxia9.7
42allergic bronchopulmonary aspergillosis, familial9.5GNE, SQSTM1
43hyperphenylalaninemia9.5ADAM12, GNE, LIF, MYOD1
44classic variant of chromophobe renal cell carcinoma9.5GNE, MYOD1

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



Diseases related to skeletal muscle regeneration

Symptoms & Phenotypes for Skeletal Muscle Regeneration

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MGI Mouse Phenotypes related to Skeletal Muscle Regeneration according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.9ADAM12, LIF, MYOD1, SQSTM1
2MP:00053858.9ADAM12, DES, EZH2, GNE, LIF, MYOD1
3MP:00107688.0ADAM12, DES, EZH2, GNE, LIF, MYOD1
4MP:00053696.3ADAM12, BCL9, DES, EZH2, GJD4, GNE

Drugs & Therapeutics for Skeletal Muscle Regeneration

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 24524
2Insulin, Globin ZincPhase 24523
3Dipeptidyl-Peptidase IV InhibitorsPhase 2846
4Sitagliptin PhosphatePhase 2416
5IncretinsPhase 21537
6
protease inhibitorsPhase 25320
Synonyms:
 
protease inhibitors
7Hypoglycemic AgentsPhase 25733
8Hormone AntagonistsPhase 212778
9HIV Protease InhibitorsPhase 25319
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
11HormonesPhase 213979
12Liver Extracts3868
13Peripheral Nervous System Agents22776
14Caseins104
15Antirheumatic Agents10627
16Analgesics11287
17Analgesics, Non-Narcotic6260
18Anti-Inflammatory Agents10355
19Anti-Inflammatory Agents, Non-Steroidal4295
20Whey ProteinNutraceutical208

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Exercise and Inhibition of Dipeptidyl Peptidase-4 on Insulin Secretion in Subjects With Type 1 DiabetesActive, not recruitingNCT02127047Phase 2
2MYOHEARTâ„¢ (Myogenesis Heart Efficiency and Regeneration Trial)Unknown statusNCT00054678Phase 1
3The Effect of Remote Ischemic Preconditioning in Patients Undergoing Major Liver SurgeryUnknown statusNCT00796588
4Influence of Non-steroidal Anti-inflammatory Drugs (NSAID) on Muscle RegenerationCompletedNCT00832663
5Protein Supplementation and Skeletal Muscle Healing ProcessCompletedNCT02816411
6Blood Flow, Muscle Regeneration and SarcopeniaCompletedNCT01035060

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:

36
Skeletal muscle, Liver, Heart, Endothelial, Bone, Myeloid, Monocytes

Publications for Skeletal Muscle Regeneration

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Articles related to Skeletal Muscle Regeneration:

(show top 50)    (show all 311)
idTitleAuthorsYear
1
Skeletal Muscle Regeneration, Repair and Remodelling in Aging: The Importance of Muscle Stem Cells and Vascularization. (27760421)
2017
2
Mitochondrial maintenance via autophagy contributes to functional skeletal muscle regeneration and remodeling. (27281480)
2016
3
BRE facilitates skeletal muscle regeneration by promoting satellite cell motility and differentiation. (26740569)
2016
4
Synthetic niche to modulate regenerative potential of MSCs and enhance skeletal muscle regeneration. (27235995)
2016
5
Myogenic differentiation potential of human tonsil-derived mesenchymal stem cells and their potential for use to promote skeletal muscle regeneration. (27035161)
2016
6
Peroxisome Proliferator Activated Receptor Beta (PPARI^) activity increases the immune response and shortens the early phases of skeletal muscle regeneration. (27939528)
2016
7
MicroRNA-155 facilitates skeletal muscle regeneration by balancing pro- and anti-inflammatory macrophages. (27277683)
2016
8
Stem cells migration during skeletal muscle regeneration - the role of Sdf-1/Cxcr4 and Sdf-1/Cxcr7 axis. (27736296)
2016
9
FOXO1 delays skeletal muscle regeneration and suppresses myoblast proliferation. (27010781)
2016
10
Diet-induced Obesity and Matrix Metalloproteinase Gene Expression at the Onset of Skeletal Muscle Regeneration: 2078 Board #230 June 2, 2: 00 PM - 3: 30 PM. (27360903)
2016
11
Differential effects of leucine supplementation in young and aged mice at the onset of skeletal muscle regeneration. (27327351)
2016
12
REDOX CONTROL OF SKELETAL MUSCLE REGENERATION. (28027662)
2016
13
Skeletal muscle regeneration via engineered tissue culture over electrospun nanofibrous Chitosan/PVA scaffold. (26945909)
2016
14
Dynamic Phosphorylation of the Myocyte Enhancer Factor 2CI+1 Splice Variant Promotes Skeletal Muscle Regeneration and Hypertrophy. (27612437)
2016
15
Macrophage depletion impairs skeletal muscle regeneration: The roles of regulatory factors for muscle regeneration. (27888539)
2016
16
Macrophage PPARI^, a Lipid Activated Transcription Factor Controls the Growth Factor GDF3 and Skeletal Muscle Regeneration. (27836432)
2016
17
The Akt/mTOR pathway: Data comparing young and aged mice with leucine supplementation at the onset of skeletal muscle regeneration. (27617277)
2016
18
Combination of small RNAs for skeletal muscle regeneration. (26625904)
2016
19
Skeletal Muscle Regeneration and Oxidative Stress Are Altered in Chronic Kidney Disease. (27486747)
2016
20
HMGB2 regulates satellite-cell-mediated skeletal muscle regeneration through IGF2BP2. (27672022)
2016
21
Evaluation of skeletal muscle regeneration in experimental model after malnutrition. (27382997)
2016
22
Dietary Flaxseed Mitigates Impaired Skeletal Muscle Regeneration: in Vivo, in Vitro and in Silico Studies. (26941581)
2016
23
Exosomes from differentiating human skeletal muscle cells trigger myogenesis of stem cells and provide biochemical cues for skeletal muscle regeneration. (26699421)
2016
24
Macrophage Depletion Impairs Skeletal Muscle Regeneration: the Roles of Pro-fibrotic Factors, Inflammation, and Oxidative Stress. (27605219)
2016
25
Molecular circuitry of stem cell fate in skeletal muscle regeneration, ageing and disease. (26956195)
2016
26
Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration. (27855784)
2016
27
Cardiotoxin Induced Injury and Skeletal Muscle Regeneration. (27492166)
2016
28
Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. (26751696)
2016
29
Regulation of myogenesis and skeletal muscle regeneration: effects of oxygen levels on satellite cell activity. (27601440)
2016
30
The role of TGF-I^1 during skeletal muscle regeneration. (28035727)
2016
31
MicroRNA-29a in Adult Muscle Stem Cells Controls Skeletal Muscle Regeneration During Injury and Exercise Downstream of Fibroblast Growth Factor-2. (26731484)
2016
32
Exercise conditioning in old mice improves skeletal muscle regeneration. (27306336)
2016
33
Skeletal muscle regeneration and impact of aging and nutrition. (26690801)
2016
34
Pharmacological blockage of fibro/adipogenic progenitor expansion and suppression of regenerative fibrogenesis is associated with impaired skeletal muscle regeneration. (27376715)
2016
35
S100B protein in skeletal muscle regeneration: regulation of myoblast and macrophage functions. (27054019)
2016
36
Skeletal muscle regeneration in cancer cachexia. (26857538)
2016
37
Fgf regulates dedifferentiation during skeletal muscle regeneration in adult zebrafish. (27267062)
2016
38
Differential Expression Of Pgc1I+4 During Skeletal Muscle Regeneration And Myogenic Differentiation: 2069 Board #221 June 2, 2: 00 PM - 3: 30 PM. (27360894)
2016
39
Regulatory T cells and skeletal muscle regeneration. (27479876)
2016
40
Effects of intramuscular administration of 1I+,25(OH)2D3during skeletal muscle regeneration on regenerative capacity, muscular fibrosis, and angiogenesis. (27032903)
2016
41
Neuraminidase-1 mediates skeletal muscle regeneration. (26001931)
2015
42
Poly(3,4-ethylenedioxythiophene) Nanoparticle and Poly(I/-caprolactone) Electrospun Scaffold Characterization for Skeletal Muscle Regeneration. (25855940)
2015
43
Inflammation during skeletal muscle regeneration and tissue remodeling-application to exercise-induced muscle damage management. (26526620)
2015
44
Monocyte/macrophage-derived IGF-1 orchestrates murine skeletal muscle regeneration and modulates autocrine polarization. (25896247)
2015
45
PEDF-derived peptide promotes skeletal muscle regeneration through its mitogenic effect on muscle progenitor cells. (26040897)
2015
46
Myeloid HIFs Are Dispensable for Resolution of Inflammation during Skeletal Muscle Regeneration. (25750431)
2015
47
mTOR is necessary for proper satellite cell activity and skeletal muscle regeneration. (25998386)
2015
48
Mesenchymal-stem-cell-derived exosomes accelerate skeletal muscle regeneration. (25862500)
2015
49
Low Intensity Exercise Training Improves Skeletal Muscle Regeneration Potential. (26733888)
2015
50
Characteristics of the Localization of Connexin 43 in Satellite Cells during Skeletal Muscle Regeneration In Vivo. (26019374)
2015

Variations for Skeletal Muscle Regeneration

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Clinvar genetic disease variations for Skeletal Muscle Regeneration:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1GNENM_005476.5(GNE): c.1760T> C (p.Ile587Thr)SNVLikely pathogenic, Pathogenicrs748949603GRCh37Chr 9, 36219891: 36219891
2GNENM_001128227.2(GNE): c.740T> C (p.Val247Ala)SNVLikely pathogenic, Pathogenicrs779694939GRCh38Chr 9, 36236954: 36236954
3GNENM_005476.5(GNE): c.527A> T (p.Asp176Val)SNVPathogenicrs139425890GRCh37Chr 9, 36246117: 36246117
4GNENM_001128227.2(GNE): c.2228T> C (p.Met743Thr)SNVPathogenicrs28937594GRCh37Chr 9, 36217396: 36217396
5GNENM_001128227.2(GNE): c.1820G> A (p.Gly607Glu)SNVPathogenicrs121908625GRCh37Chr 9, 36219924: 36219924
6GNENM_001190383.1(GNE): c.1669G> A (p.Ala557Thr)SNVPathogenicrs121908626GRCh37Chr 9, 36218222: 36218222
7GNENM_005476.5(GNE): c.2086G> A (p.Val696Met)SNVLikely pathogenic, Pathogenicrs121908627GRCh37Chr 9, 36217445: 36217445
8GNENM_001128227.2(GNE): c.1002T> A (p.Cys334Ter)SNVPathogenicrs121908628GRCh37Chr 9, 36233990: 36233990
9GNENM_001128227.2(GNE): c.830G> A (p.Arg277Gln)SNVLikely pathogenic, Pathogenicrs121908629GRCh37Chr 9, 36236861: 36236861
10GNENM_001128227.2(GNE): c.766G> A (p.Asp256Asn)SNVPathogenicrs121908630GRCh37Chr 9, 36236925: 36236925
11GNENM_001128227.2(GNE): c.1472C> T (p.Ala491Val)SNVPathogenicrs121908631GRCh37Chr 9, 36223402: 36223402
12GNENM_005476.5(GNE): c.1714G> C (p.Val572Leu)SNVPathogenicrs121908632GRCh37Chr 9, 36219937: 36219937
13GNENM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val)indelPathogenicrs121908633GRCh37Chr 9, 36233991: 36233992
14GNENM_001128227.2(GNE): c.1985C> T (p.Ala662Val)SNVPathogenicrs62541771GRCh37Chr 9, 36218221: 36218221
15GNENM_001128227.2(GNE): c.604A> G (p.Met202Val)SNVPathogenicrs121908634GRCh37Chr 9, 36246133: 36246133
16SQSTM1NM_003900.4(SQSTM1): c.970_1165delSNVPathogenicrs796051870GRCh38Chr 5, 179833783: 179833783

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
19.5EZH2, MYOD1

GO Terms for genes affiliated with Skeletal Muscle Regeneration

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

idNameGO IDScoreTop Affiliating Genes
1myotube differentiation involved in skeletal muscle regenerationGO:001490810.1BCL9, MYOD1
2myoblast fusionGO:00075209.7ADAM12, MYOD1, TMEM8C
3skeletal muscle cell differentiationGO:00359149.6BCL9, MYOD1

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

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:003149010.0EZH2, MYOD1
2core promoter bindingGO:00010479.5EZH2, MYOD1

Sources for Skeletal Muscle Regeneration

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet