MCID: SKL007
MIFTS: 32

Skeletal Muscle Regeneration malady

Category: Bone diseases

Aliases & Classifications for Skeletal Muscle Regeneration

About this section

Aliases & Descriptions for Skeletal Muscle Regeneration:

Name: Skeletal Muscle Regeneration 70
Hereditary Inclusion Body Myopathy 70
 
Nonaka Myopathy 67

Classifications:



Summaries for Skeletal Muscle Regeneration

About this section
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

About this section

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 for Skeletal Muscle Regeneration

About this section

Drugs & Therapeutics for Skeletal Muscle Regeneration

About this section

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

About this section

Anatomical Context for Skeletal Muscle Regeneration

About this section

MalaCards organs/tissues related to Skeletal Muscle Regeneration:

35
Skeletal muscle, Liver, Heart, Endothelial, Bone, Myeloid, Monocytes

Animal Models for Skeletal Muscle Regeneration or affiliated genes

About this section

MGI Mouse Phenotypes related to Skeletal Muscle Regeneration:

40
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

Publications for Skeletal Muscle Regeneration

About this section

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
Neuraminidase-1 mediates skeletal muscle regeneration. (26001931)
2015
11
Poly(3,4-ethylenedioxythiophene) Nanoparticle and Poly(I/-caprolactone) Electrospun Scaffold Characterization for Skeletal Muscle Regeneration. (25855940)
2015
12
Inflammation during skeletal muscle regeneration and tissue remodeling-application to exercise-induced muscle damage management. (26526620)
2015
13
Monocyte/macrophage-derived IGF-1 orchestrates murine skeletal muscle regeneration and modulates autocrine polarization. (25896247)
2015
14
PEDF-derived peptide promotes skeletal muscle regeneration through its mitogenic effect on muscle progenitor cells. (26040897)
2015
15
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
16
Altered macrophage phenotype transition impairs skeletal muscle regeneration. (24525152)
2014
17
Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation. (25303869)
2014
18
Cellular players in skeletal muscle regeneration. (24779022)
2014
19
Monocyte/macrophage interactions with myogenic precursor cells during skeletal muscle regeneration. (23384231)
2013
20
Myeloid hypoxia-inducible factor-1I+ is essential for skeletal muscle regeneration in mice. (23729446)
2013
21
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration. (23577150)
2013
22
The time course effects of electroacupuncture on promoting skeletal muscle regeneration and inhibiting excessive fibrosis after contusion in rabbits. (23990848)
2013
23
Sonic Hedgehog Therapy in a Mouse Model of Age-Associated Impairment of Skeletal Muscle Regeneration. (23781099)
2013
24
Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. (23155423)
2012
25
Lack of Smad3 signaling leads to impaired skeletal muscle regeneration. (22535746)
2012
26
Sca-1 influences the innate immune response during skeletal muscle regeneration. (21123737)
2011
27
Macrophage-specific expression of urokinase-type plasminogen activator promotes skeletal muscle regeneration. (21709151)
2011
28
Sphingosine 1-phosphate signaling is involved in skeletal muscle regeneration. (20042733)
2010
29
Sca-1 expression is required for efficient remodeling of the extracellular matrix during skeletal muscle regeneration. (19059231)
2009
30
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. (19401296)
2009
31
Sonic hedgehog regulates angiogenesis and myogenesis during post-natal skeletal muscle regeneration. (18662193)
2009
32
Delayed angiogenesis and VEGF production in CCR2-/- mice during impaired skeletal muscle regeneration. (17522124)
2007
33
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
34
VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice. (17575261)
2007
35
Type I insulin-like growth factor receptor signaling in skeletal muscle regeneration and hypertrophy. (17947802)
2007
36
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
37
Nonthermal ultrasound and exercise in skeletal muscle regeneration. (16003655)
2005
38
Direct isolation of satellite cells for skeletal muscle regeneration. (16141372)
2005
39
Mice deficient in plasminogen activator inhibitor-1 have improved skeletal muscle regeneration. (15716324)
2005
40
Sox15 is required for skeletal muscle regeneration. (15367664)
2004
41
Skeletal muscle regeneration and Trypanosoma cruzi-induced myositis in rats. (14702175)
2004
42
Mitochondrial biogenesis during skeletal muscle regeneration. (11882500)
2002
43
A role of tensin in skeletal-muscle regeneration. (11389681)
2001
44
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
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

About this section

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

About this section
Search GEO for disease gene expression data for Skeletal Muscle Regeneration.

Pathways for genes affiliated with Skeletal Muscle Regeneration

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1myotube differentiation involved in skeletal muscle regenerationGO:00149089.9BCL9, MYOD1
2skeletal muscle cell differentiationGO:00359149.6BCL9, MYOD1
3myoblast fusionGO:00075209.3ADAM12, MYOD1, TMEM8C

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

idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:00314909.5EZH2, MYOD1
2core promoter bindingGO:00010479.5EZH2, MYOD1

Sources for Skeletal Muscle Regeneration

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet