|
ID |
Name |
Source |
pValue |
FDR B&H |
FDR B&Y |
Bonferroni |
Genes from Input
|
Genes in Annotation
|
1
|
20301582
|
Limb-Girdle Muscular Dystrophy Overview
|
Pubmed
|
4.946E-24
|
4.615E-21
|
3.423E-20
|
4.615E-21
|
7
|
21
|
2
|
20405035
|
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle.
|
Pubmed
|
4.521E-10
|
2.109E-7
|
1.564E-6
|
4.218E-7
|
3
|
10
|
3
|
23414517
|
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
|
Pubmed
|
6.872E-10
|
2.137E-7
|
1.585E-6
|
6.412E-7
|
4
|
82
|
4
|
15827562
|
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
|
Pubmed
|
2.879E-8
|
3.838E-6
|
2.846E-5
|
2.686E-5
|
2
|
2
|
5
|
14749532
|
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.
|
Pubmed
|
2.879E-8
|
3.838E-6
|
2.846E-5
|
2.686E-5
|
2
|
2
|
6
|
11532985
|
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
|
Pubmed
|
2.879E-8
|
3.838E-6
|
2.846E-5
|
2.686E-5
|
2
|
2
|
7
|
16319126
|
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.
|
Pubmed
|
2.879E-8
|
3.838E-6
|
2.846E-5
|
2.686E-5
|
2
|
2
|
8
|
25198651
|
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.
|
Pubmed
|
8.637E-8
|
8.059E-6
|
5.976E-5
|
8.059E-5
|
2
|
3
|
9
|
18096699
|
Caveolin regulates endocytosis of the muscle repair protein, dysferlin.
|
Pubmed
|
8.637E-8
|
8.059E-6
|
5.976E-5
|
8.059E-5
|
2
|
3
|
10
|
19380584
|
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
|
Pubmed
|
8.637E-8
|
8.059E-6
|
5.976E-5
|
8.059E-5
|
2
|
3
|
11
|
19143834
|
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
|
Pubmed
|
2.879E-7
|
2.238E-5
|
1.660E-4
|
2.686E-4
|
2
|
5
|
12
|
17148677
|
Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice.
|
Pubmed
|
2.879E-7
|
2.238E-5
|
1.660E-4
|
2.686E-4
|
2
|
5
|
13
|
26060189
|
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
|
Pubmed
|
4.318E-7
|
3.099E-5
|
2.298E-4
|
4.028E-4
|
2
|
6
|
14
|
20301725
|
Hypertrophic Cardiomyopathy Overview
|
Pubmed
|
6.640E-6
|
3.940E-4
|
2.922E-3
|
6.195E-3
|
2
|
22
|
15
|
20301486
|
Dilated Cardiomyopathy Overview
|
Pubmed
|
1.424E-5
|
3.940E-4
|
2.922E-3
|
1.329E-2
|
2
|
32
|
16
|
12461690
|
Clinical variability in calpainopathy: what makes the difference?
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
17
|
23332128
|
Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
18
|
21836041
|
Activation of skeletal muscle calpain-3 by eccentric exercise in humans does not result in its translocation to the nucleus or cytosol.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
19
|
22560623
|
Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
20
|
16175175
|
TRIM family proteins: retroviral restriction and antiviral defence.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
21
|
16896923
|
Identification and characterization of a novel human dysferlin transcript: dysferlin v1.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
22
|
20082313
|
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
23
|
15535137
|
In vivo and in vitro dysferlin expression in human muscle satellite cells.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
24
|
19179078
|
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
25
|
26112643
|
Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
26
|
29206848
|
Caveolin-3 promotes glycometabolism, growth and proliferation in muscle cells.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
27
|
15318348
|
Developmental and tissue-specific regulation of a novel dysferlin isoform.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
28
|
14678801
|
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
29
|
14981167
|
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
30
|
20533264
|
[Different splice of the calpain 3 gene in human skeletal muscle tissue and white blood cells].
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
31
|
15682833
|
Caveolae localization and caveolin expressions in Schwann cells of mature rat spinal nerves.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
32
|
14663034
|
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
33
|
26371419
|
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
34
|
14512171
|
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
35
|
16862423
|
The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
36
|
17405141
|
A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
37
|
16797397
|
Loss of podocyte dysferlin expression is associated with minimal change nephropathy.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
38
|
23746531
|
Nanoscale distribution of ryanodine receptors and caveolin-3 in mouse ventricular myocytes: dilation of t-tubules near junctions.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
39
|
8275093
|
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
40
|
23908349
|
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
41
|
23414389
|
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
42
|
24839933
|
Deletion of TRIM32 protects mice from anxiety- and depression-like behaviors under mild stress.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
43
|
17868276
|
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
44
|
15351423
|
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
45
|
16010686
|
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
46
|
26073173
|
Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
47
|
16141003
|
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
48
|
18853459
|
Analysis of the DYSF mutational spectrum in a large cohort of patients.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
49
|
22334415
|
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|
50
|
25630502
|
CAV3 gene sequence variations: National Genome Database and clinics.
|
Pubmed
|
1.833E-4
|
3.940E-4
|
2.922E-3
|
1.710E-1
|
1
|
1
|