MCID: SKL007
MIFTS: 26

Skeletal Muscle Regeneration malady

Bone diseases category

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 dementia. An important gene associated with Skeletal Muscle Regeneration is GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase). Affiliated tissues include skeletal muscle, bone and endothelial.

Aliases & Classifications for Skeletal Muscle Regeneration

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Skeletal Muscle Regeneration, Aliases & Descriptions:

Name: Skeletal Muscle Regeneration 63
Hereditary Inclusion Body Myopathy 63
 
Nonaka Myopathy 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


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 24)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy11.1
2dementia10.5
3hereditary inclusion body myopathy type 410.5
4muscular dystrophy10.5
5paget disease of bone10.4
6endotheliitis10.4
7leukemia10.3
8ischemia10.3
9myositis10.3
10rhabdomyosarcoma10.3
11hereditary proximal myopathy with early respiratory failure10.3
12insulin-like growth factor i10.2
13myotonic dystrophy 110.2
14obesity10.2
15duchenne muscular dystrophy10.2
16limb ischemia10.2
17inclusion body myositis10.2
18compartment syndrome10.2
19endometriosis10.2
20thyroiditis10.2
21myotonic dystrophy10.2
22dystrophinopathies10.2
23polymyositis10.2
24hypoxia10.2

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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Drug clinical trials:

Search ClinicalTrials for Skeletal Muscle Regeneration

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:

31
Skeletal muscle, Bone, Endothelial, Myeloid, Monocytes, Bone marrow, Brain, Thyroid, T cells, Tongue, Neutrophil

Animal Models for Skeletal Muscle Regeneration or affiliated genes

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Publications for Skeletal Muscle Regeneration

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Articles related to Skeletal Muscle Regeneration:

(show top 50)    (show all 254)
idTitleAuthorsYear
1
Poly(3,4-ethylenedioxythiophene) Nanoparticle and Poly(I/-caprolactone) Electrospun Scaffold Characterization for Skeletal Muscle Regeneration. (25855940)
2015
2
Doublecortin marks a new population of transiently amplifying muscle progenitor cells and is required for myofiber maturation during skeletal muscle regeneration. (25670800)
2015
3
Monocyte/macrophage-derived IGF-1 orchestrates murine skeletal muscle regeneration and modulates autocrine polarization. (25896247)
2015
4
Leucine supplementation improves skeletal muscle regeneration after cryolesion in rats. (24416379)
2014
5
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
6
Intramuscular administration of PEGylated IGF-I improves skeletal muscle regeneration after myotoxic injury. (23608055)
2013
7
Monocyte/macrophage interactions with myogenic precursor cells during skeletal muscle regeneration. (23384231)
2013
8
Myeloid hypoxia-inducible factor-1I+ is essential for skeletal muscle regeneration in mice. (23729446)
2013
9
Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration. (23577150)
2013
10
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
11
Biochemical and mechanical environment cooperatively regulate skeletal muscle regeneration. (22415307)
2012
12
Tissue engineering for skeletal muscle regeneration. (23738301)
2012
13
MASTR directs MyoD-dependent satellite cell differentiation during skeletal muscle regeneration. (22279050)
2012
14
Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. (23155423)
2012
15
Sca-1 influences the innate immune response during skeletal muscle regeneration. (21123737)
2011
16
PC4/Tis7/IFRD1 stimulates skeletal muscle regeneration and is involved in myoblast differentiation as a regulator of MyoD and NF-kappaB. (21127072)
2011
17
Uncovering the transcriptional circuitry in skeletal muscle regeneration. (21509518)
2011
18
Macrophage-specific expression of urokinase-type plasminogen activator promotes skeletal muscle regeneration. (21709151)
2011
19
Sphingosine 1-phosphate signaling is involved in skeletal muscle regeneration. (20042733)
2010
20
Sca-1 expression is required for efficient remodeling of the extracellular matrix during skeletal muscle regeneration. (19059231)
2009
21
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. (19401296)
2009
22
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
23
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
24
Tumor necrosis factor-alpha inhibition of skeletal muscle regeneration is mediated by a caspase-dependent stem cell response. (18258721)
2008
25
Delayed angiogenesis and VEGF production in CCR2-/- mice during impaired skeletal muscle regeneration. (17522124)
2007
26
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. (17185750)
2007
27
Skeletal muscle regeneration may be enhanced by overexpression of aquaporin 1 in intramuscular capillary endothelial cells. (17052860)
2007
28
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
29
VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice. (17575261)
2007
30
Bex1 knock out mice show altered skeletal muscle regeneration. (17884015)
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:

6
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_001128227.2(GNE): c.1807G> C (p.Val603Leu)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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Compounds for genes affiliated with Skeletal Muscle Regeneration

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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
1sarcolemmaGO:00423839.1AQP1, AHNAK2

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of angiogenesisGO:00457669.5AQP1, TNFSF12
2cellular response to cAMPGO:00713209.3WNT10B, AQP1
3cellular response to retinoic acidGO:00713009.1WNT10B, AQP1

Products for genes affiliated with Skeletal Muscle Regeneration

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Sources for Skeletal Muscle Regeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet