MCID: SKL007
MIFTS: 30

Skeletal Muscle Regeneration malady

Bone diseases category

Aliases & Classifications for Skeletal Muscle Regeneration

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Aliases & Descriptions for Skeletal Muscle Regeneration:

Name: Skeletal Muscle Regeneration 68
Hereditary Inclusion Body Myopathy 68
 
Nonaka Myopathy 65


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 myopathy and inclusion body myopathy, autosomal recessive. 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 Syndecan-4-mediated signaling events. Affiliated tissues include skeletal muscle, bone and endothelial, and related mouse phenotypes are liver/biliary system and immune 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 top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy11.2
2inclusion body myopathy, autosomal recessive10.7
3nonaka myopathy10.7
4muscle disorders10.7
5distal muscular dystrophy10.7
6atrophic muscular disease10.7
7muscular atrophy10.7
8muscle tissue disease10.7
9neuromuscular disease10.7
10progressive muscular dystrophy10.7
11progressive muscular atrophy10.6
12hereditary inclusion body myopathy type 410.6
13myopathy, distal, 410.5
14dementia10.5
15muscular dystrophy10.5
16anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
17newcastle disease10.4
18gne-related myopathy10.4
19hereditary proximal myopathy with early respiratory failure10.4
20ocular muscular dystrophy10.4
21reducing body myopathy10.4
22obesity10.4
23endotheliitis10.4
24leukemia10.3
25ischemia10.3
26myositis10.3
27rhabdomyosarcoma10.3
28optic atrophy 110.3
29multiple system atrophy10.3
30optic atrophy 610.3
31optic atrophy 710.3
323-methylglutaconic aciduria, type iii10.3
33foster-kennedy syndrome10.3
34spondylosis10.3
35primary optic atrophy10.3
36auditory system disease10.3
37blood protein disease10.3
38globe disease10.3
39nutritional deficiency disease10.3
40optic nerve disease10.3
41physical disorder10.3
42tongue disease10.3
43congenital muscular dystrophy due to dystroglycanopathy10.3
44optic atrophy 210.3
45dysphagia10.3
46swallowing disorders10.3
47insulin-like growth factor i10.2
48myotonic dystrophy 110.2
49duchenne muscular dystrophy10.2
50inclusion body myositis10.2

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
Sitagliptinapproved, investigationalPhase 2381486460-32-64369359
Synonyms:
(2R)-4-OXO-4-[3-(TRIFLUOROMETHYL)-5,6-DIHYDRO[1,2,4]TRIAZOLO[4,3-A]PYRAZIN-7(8H)-YL]-1-(2,4,5-TRIFLUOROPHENYL)BUTAN-2-AMINE
(2R)-4-OXO-4-[3-(trifluoromethyl)-5,6-dihydro[1,2,4]triazolo[4,3-a]pyrazin-7(8H)-yl]-1-(2,4,5-trifluorophenyl)butan-2-amine
(3R)-3-Amino-1-[3-(trifluoromethyl)-5,6,7,8-tetrahydro-1,2,4-triazolo[4,3-a]pyrazin-7-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
(3R)-3-amino-1-[3-(trifluoromethyl)-5,6-dihydro[1,2,4]triazolo[4,3-a]pyrazin-7(8H)-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
(3R)-3-amino-1-[3-(trifluoromethyl)-6,8-dihydro-5H-[1,2,4]triazolo[4,3-a]pyrazin-7-yl]-4-(2,4,5-trifluorophenyl)butan-1-one
1x70
486460-32-6
AB1004599
AC1N9ZYR
BRD-K19416115-001-01-2
BSPBio_002262
CHEBI:40237
CHEMBL1422
CID4369359
D08516
DB01261
 
DB07214
HMS2093F20
HSDB 7516
Janumet
Januvia
Januvia (merck & Co.)
LS-187389
MK-0431
MolPort-003-666-756
Sitagliptan
Sitagliptin
Sitagliptin (Prop.INN)
Sitagliptin phosphate
Sitagliptina
Sitagliptine
Sitagliptinum
UNII-QFP0P1DV7Z
Xelevia
2Insulin, Globin ZincPhase 24069
3insulinPhase 24069

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Exercise and Inhibition of Dipeptidyl Peptidase-4 on Insulin Secretion in Subjects With Type 1 DiabetesRecruitingNCT02127047Phase 2
2MYOHEARTâ„¢ (Myogenesis Heart Efficiency and Regeneration Trial)Active, not recruitingNCT00054678Phase 1
3Influence of Non-steroidal Anti-inflammatory Drugs (NSAID) on Muscle RegenerationCompletedNCT00832663
4Blood Flow, Muscle Regeneration and SarcopeniaCompletedNCT01035060
5The 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:

33
Skeletal muscle, Bone, Endothelial, Monocytes, Myeloid, Tongue, Neutrophil

Animal Models for Skeletal Muscle Regeneration or affiliated genes

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MGI Mouse Phenotypes related to Skeletal Muscle Regeneration:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5CXCL12, IGF2, LIF, MME
2MP:00053878.0CXCL12, GNE, IGF2, LIF, MME
3MP:00053697.4ADAM12, CXCL12, DES, GNE, IGF2, LIF
4MP:00053857.4ADAM12, CXCL12, DES, GNE, IGF2, LIF
5MP:00107687.1ADAM12, CXCL12, DES, GNE, IGF2, LIF

Publications for Skeletal Muscle Regeneration

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Articles related to Skeletal Muscle Regeneration:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Adult Stem Cells and Skeletal Muscle Regeneration. (26122100)
2015
2
Neuraminidase-1 mediates skeletal muscle regeneration. (26001931)
2015
3
Poly(3,4-ethylenedioxythiophene) Nanoparticle and Poly(I/-caprolactone) Electrospun Scaffold Characterization for Skeletal Muscle Regeneration. (25855940)
2015
4
Inflammation during skeletal muscle regeneration and tissue remodeling-application to exercise-induced muscle damage management. (26526620)
2015
5
Diet-induced obesity alters anabolic signalling in mice at the onset of skeletal muscle regeneration. (26052759)
2015
6
Doublecortin marks a new population of transiently amplifying muscle progenitor cells and is required for myofiber maturation during skeletal muscle regeneration. (25670800)
2015
7
Leucine supplementation improves skeletal muscle regeneration after cryolesion in rats. (24416379)
2014
8
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
9
Intramuscular administration of PEGylated IGF-I improves skeletal muscle regeneration after myotoxic injury. (23608055)
2013
10
Monocyte/macrophage interactions with myogenic precursor cells during skeletal muscle regeneration. (23384231)
2013
11
Myeloid hypoxia-inducible factor-1I+ is essential for skeletal muscle regeneration in mice. (23729446)
2013
12
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration. (23577150)
2013
13
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
14
Biochemical and mechanical environment cooperatively regulate skeletal muscle regeneration. (22415307)
2012
15
Tissue engineering for skeletal muscle regeneration. (23738301)
2012
16
MASTR directs MyoD-dependent satellite cell differentiation during skeletal muscle regeneration. (22279050)
2012
17
Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. (23155423)
2012
18
Sca-1 influences the innate immune response during skeletal muscle regeneration. (21123737)
2011
19
PC4/Tis7/IFRD1 stimulates skeletal muscle regeneration and is involved in myoblast differentiation as a regulator of MyoD and NF-kappaB. (21127072)
2011
20
Uncovering the transcriptional circuitry in skeletal muscle regeneration. (21509518)
2011
21
Sphingosine 1-phosphate signaling is involved in skeletal muscle regeneration. (20042733)
2010
22
Sca-1 expression is required for efficient remodeling of the extracellular matrix during skeletal muscle regeneration. (19059231)
2009
23
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. (19401296)
2009
24
Acceleration of skeletal muscle regeneration in a rat skeletal muscle injury model by local injection of human peripheral blood-derived CD133-positive cells. (19353523)
2009
25
Age influences the early events of skeletal muscle regeneration: studies of whole muscle grafts transplanted between young (8 weeks) and old (13-21 months) mice. (18364250)
2008
26
Tumor necrosis factor-alpha inhibition of skeletal muscle regeneration is mediated by a caspase-dependent stem cell response. (18258721)
2008
27
Delayed angiogenesis and VEGF production in CCR2-/- mice during impaired skeletal muscle regeneration. (17522124)
2007
28
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. (17185750)
2007
29
Skeletal muscle regeneration may be enhanced by overexpression of aquaporin 1 in intramuscular capillary endothelial cells. (17052860)
2007
30
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
31
Increased expression of deltaCaMKII isoforms in skeletal muscle regeneration: Implications in dystrophic muscle disease. (16215994)
2006
32
The plasminogen activation system in skeletal muscle regeneration: antagonistic roles of urokinase-type plasminogen activator (uPA) and its inhibitor (PAI-1). (15970552)
2005
33
Hematopoietic contribution to skeletal muscle regeneration by myelomonocytic precursors. (15353585)
2004
34
Heparan sulfate proteoglycans are increased during skeletal muscle regeneration: requirement of syndecan-3 for successful fiber formation. (14627628)
2004
35
Highly coordinated gene regulation in mouse skeletal muscle regeneration. (12477723)
2003
36
Mitochondrial biogenesis during skeletal muscle regeneration. (11882500)
2002
37
Skeletal muscle regeneration after insulin-like growth factor I gene transfer by recombinant Sendai virus vector. (11526451)
2001
38
Regulation of alpha7 integrin by mechanical stress during skeletal muscle regeneration. (11369187)
2001
39
Murray L. Barr Award Lecture. Studies of the dynamics of skeletal muscle regeneration: the mouse came back! (9666302)
1998
40
Growth factors in skeletal muscle regeneration. (8971480)
1996
41
Skeletal muscle regeneration after injury: an overview. (8167787)
1994
42
Effect of torbafylline on mitochondrial calmitine in mouse skeletal muscle regeneration after injection of a myotoxic drug. (8229057)
1993
43
The role of basic fibroblast growth factor in skeletal muscle regeneration. (1591017)
1992
44
The effect of X-irradiation on skeletal muscle regeneration in the adult rat. (3572447)
1987
45
Time course of changes in protein synthesis in marcaine-induced skeletal muscle regeneration. (6083423)
1984
46
Skeletal muscle regeneration after myonecrosis induced by crude venom and a myotoxin from the snake Bothrops asper (Fer-de-Lance). (6523503)
1984
47
Skeletal muscle regeneration. (7017402)
1981
48
Skeletal muscle: regeneration and transplantation studies. (7020842)
1980
49
Choline acetyltransferase and cholinesterase in skeletal muscle regeneration. (1123632)
1975
50
Origin of myoblasts during skeletal muscle regeneration. Electron microscopic observations. (5776329)
1969

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_001128227.2(GNE): c.1472C> T (p.Ala491Val)single nucleotide variantPathogenicrs121908631GRCh37Chr 9, 36223402: 36223402
3GNENM_005476.5(GNE): c.1714G> C (p.Val572Leu)single nucleotide variantPathogenicrs121908632GRCh37Chr 9, 36219937: 36219937
4GNENM_001128227.2(GNE): c.1000_1001delTGinsGT (p.Cys334Val)indelPathogenicrs121908633GRCh37Chr 9, 36233991: 36233992
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 pathways (with members indented)ScoreTop Affiliating Genes
19.5ADAM12, CXCL12

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
1positive regulation of MAPK cascadeGO:004341010.0IGF2, LIF
2positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8IGF2, LIF
3organ regenerationGO:00311009.7CXCL12, LIF
4cell adhesionGO:00071559.2ADAM12, CXCL12, GNE
5positive regulation of cell proliferationGO:00082849.0CXCL12, IGF2, LIF

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.7ADAM12, MME
2growth factor activityGO:00080839.0CXCL12, IGF2, LIF

Sources for Skeletal Muscle Regeneration

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet