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 68
Hereditary Inclusion Body Myopathy 68
 
Nonaka Myopathy 65

Classifications:



External Ids:

UMLS65 C1853926

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 inclusion body myositis. 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 WNT ligand biogenesis and trafficking and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include skeletal muscle, liver and heart, and related mouse phenotype muscle.

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):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 24278
2Dipeptidyl-Peptidase IV InhibitorsPhase 2779
3Protease InhibitorsPhase 24558
4Sitagliptin PhosphatePhase 2399
5IncretinsPhase 21326
6Insulin, Globin ZincPhase 24278
7Hypoglycemic AgentsPhase 24503
8HIV Protease InhibitorsPhase 24558
9Hormone AntagonistsPhase 210002
10HormonesPhase 211748
11Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
12Antirheumatic Agents8496
13Peripheral Nervous System Agents18510
14Anti-Inflammatory Agents, Non-Steroidal3549
15Analgesics9358
16Anti-Inflammatory Agents8478
17Analgesics, Non-Narcotic5184
18Liver Extracts3572

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, Liver, Heart, Brain, Endothelial, Neutrophil, Bone

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:00053698.2ADAM12, BCL9, GNE, WNT10B

Publications for Skeletal Muscle Regeneration

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Articles related to Skeletal Muscle Regeneration:

(show top 50)    (show all 267)
idTitleAuthorsYear
1
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome. (26837408)
2016
2
Hemophagocytic lymphohistiocytosis and pelger-huA25013716)
2014
3
Macrolides and mortality in severe community-acquired pneumonia*. (24434459)
2014
4
Nine human sparganosis cases in Thailand with molecular identification of causative parasite species. (24842879)
2014
5
In vitro antiviral activity of dermaseptin S(4) and derivatives from amphibian skin against herpes simplex virus type 2. (23161023)
2013
6
Regulation of hippocampal cGMP levels as a candidate to treat cognitive deficits in Huntington's disease. (24040016)
2013
7
Differential membrane type 1 matrix metalloproteinase substrate processing with ischemia-reperfusion: relationship to interstitial microRNA dynamics and myocardial function. (23102905)
2013
8
Lipoma of the sinus tarsi. (24225911)
2013
9
Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. (23089243)
2013
10
TREX exposes the RNA-binding domain of Nxf1 to enable mRNA export. (22893130)
2012
11
Circadian genes, the stress axis, and alcoholism. (23134053)
2012
12
Tissue factor and glycoprotein C on herpes simplex virus type 1 are protease-activated receptor 2 cofactors that enhance infection. (22374699)
2012
13
Update on targeted therapies for clear cell renal cell carcinoma. (21330923)
2011
14
Progress and promise: the current status of spinal muscular atrophy therapeutics. (22031667)
2011
15
Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism. (22031648)
2011
16
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex. (21415462)
2011
17
Ectopic Cushing's syndrome caused by a well differentiated ACTH-secreting neuroendocrine carcinoma of the ileum. (20162505)
2010
18
Elastofibroma dorsi: management, outcome and review of the literature. (20130320)
2010
19
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction? (19445731)
2009
20
Effect of oil pulling on plaque induced gingivitis: a randomized, controlled, triple-blind study. (19336860)
2009
21
Hearing loss in Turner syndrome: results of a multicentric study. (18997489)
2008
22
ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts. (18617639)
2008
23
Reduced nitric oxide bioavailability in chronic renal failure: a new factor of progression?]. (18473302)
2008
24
Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. (17890912)
2007
25
Virological and immunological characteristics of fatal Epstein-Barr virus mononucleosis in a 17-year-old Caucasian male presenting with meningoencephalitis and hemophagocytic syndrome. (17849323)
2007
26
Changing the p53 master regulatory network: ELEMENTary, my dear Mr Watson. (17401428)
2007
27
Prevention by NCX 4016, a nitric oxide-donating aspirin, but not by aspirin, of the acute endothelial dysfunction induced by exercise in patients with intermittent claudication. (17334512)
2007
28
Good syndrome coexisting with leukopenia. (18036947)
2007
29
Expression of endoderm stem cell markers: evidence for the presence of adult stem cells in human thyroid glands. (16839255)
2006
30
RNA-mediated sequestration of the RNA helicase eIF4A by Pateamine A inhibits translation initiation. (17185224)
2006
31
Possible regulation of microtubules through destabilization of tubulin. (16202601)
2005
32
Wild-type p53 protein is up-regulated upon cyclic adenosine monophosphate-induced differentiation of human endometrial stromal cells. (15472230)
2004
33
Gamma interferon triggers interaction between ICSBP (IRF-8) and TEL, recruiting the histone deacetylase HDAC3 to the interferon-responsive element. (12370291)
2002
34
Relationship between diversity of hepatitis C virus quasispecies and viremia, activity of liver disease and response to interferon therapy]. (12196822)
2002
35
The role of angiotensin converting enzyme inhibitors and angiotensin II receptor antagonists in the management of diabetic complications. (12269846)
2002
36
Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. (11318937)
2001
37
Determinants of enhanced thromboxane biosynthesis in renal transplantation. (11260423)
2001
38
Microsatellite instability and alternative genetic pathway in intrahepatic cholangiocarcinoma. (11580146)
2001
39
The effects of the combined use of mineral water with ascorbic acid and rutin experimentally and clinically]. (11094893)
2000
40
Altered endothelin-3 and endothelin-B receptor mRNA expression in Hirschsprung's disease. (10466607)
1999
41
Clinical significance of arterial blood gas analysis for detection and/or treatment of central sleep apnea in patients with heart failure. (10338545)
1999
42
Identification of a second aryl phosphate-binding site in protein- tyrosine phosphatase 1B: a paradigm for inhibitor design. (9391040)
1997
43
Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. (9284704)
1997
44
A familial disorder with duodenal atresia and tetralogy of Fallot. (8957509)
1996
45
Cleavage analysis of insulin-like growth factor (IGF)-dependent IGF-binding protein-4 proteolysis and expression of protease-resistant IGF-binding protein-4 mutants. (7533161)
1995
46
Adenomatous lesions of the temporal bone immunohistochemical analysis and theories of histogenesis. (8572112)
1995
47
A phase II trial of preirradiation carboplatin in newly diagnosed germinoma of the central nervous system. (8039122)
1994
48
Derivatives of 1-aminooxy-3-aminopropane as polyamine antimetabolites: stability and effects on BHK21/C13 cells. (7896733)
1994
49
Localization and production of plasminogen activator inhibitor-1 in human healthy and atherosclerotic arteries. (7686395)
1993
50

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:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1WNT10B, WNT7A
29.1WNT10B, WNT7A
3
Show member pathways
9.1WNT10B, WNT7A
49.1WNT10B, WNT7A
59.1WNT10B, WNT7A
69.1WNT10B, WNT7A
7
Show member pathways
8.5BCL9, WNT10B, WNT7A
8
Show member pathways
8.5BCL9, WNT10B, WNT7A
98.5BCL9, WNT10B, WNT7A
10
Show member pathways
8.5BCL9, WNT10B, WNT7A
11
Show member pathways
8.5BCL9, WNT10B, WNT7A
12
Show member pathways
8.0ACTN2, BCL9, WNT10B, WNT7A

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
1chondrocyte differentiationGO:00020629.5WNT10B, WNT7A
2cell fate commitmentGO:00451659.4WNT10B, WNT7A
3neuron differentiationGO:00301829.4WNT10B, WNT7A
4Wnt signaling pathwayGO:00160559.1WNT10B, WNT7A
5positive regulation of canonical Wnt signaling pathwayGO:00902639.0WNT10B, WNT7A
6canonical Wnt signaling pathwayGO:00600708.6BCL9, WNT10B, WNT7A

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