(Idiopathic) normal pressure hydrocephalus
|
0.010 |
Biomarker
|
disease |
BEFREE |
Astrogliosis and impaired aquaporin-4 and dystrophin systems in idiopathic normal pressure hydrocephalus.
|
28627088 |
2018 |
2-3 toe syndactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
3-Methylglutaconic aciduria type 2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21.
|
7616547 |
1995 |
Abnormal behavior
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
|
26365034 |
2016 |
Abnormal behavior
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
In this study, we undertook a large-scale behavioral study to evaluate fear-related behavioral disturbances in dystrophin-deficient mdx mice.
|
28087735 |
2017 |
Abnormal behavior
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Two alternative hypotheses are proposed to explain such an association: (1) the existence of a susceptibility locus for schizophrenia and spectrum disorders on the short arm of the X chromosome at Xp21; (2) that these psychiatric disorders may result from an abnormality in the expression of the dystrophin gene in the brain.
|
8445617 |
1993 |
Abnormal muscle fiber dystrophin expression
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Abnormal renal morphology
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype.
|
30887870 |
2019 |
Absence of muscle
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness.
|
22894145 |
2012 |
Absence of muscle
|
0.040 |
Biomarker
|
disease |
BEFREE |
Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration of skeletal muscle.
|
23168016 |
2012 |
Absence of muscle
|
0.040 |
Biomarker
|
disease |
BEFREE |
We have previously identified two exceptional golden retriever muscular dystrophy (GRMD) dogs with a milder course despite the total absence of muscle dystrophin.
|
25047667 |
2014 |
Absence of muscle
|
0.040 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin.
|
17428346 |
2007 |
Absence Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Accidental Falls
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Acute Erythroblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The replication structure of the human dystrophin gene in cultured masculine erythroleukemia cells (line HEL 92.1.7) was studied using the replication direction assay.
|
9339357 |
1997 |
Acute myocardial infarction
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings demonstrate a significantly higher proportion of active coxsackievirus B cardiovascular infections in patients who suddenly died of MI compared with matched control subjects, suggesting that these EVs may significantly contribute to the pathogenesis of acute MI by a focal disruption of the dystrophin-glycoprotein complex.
|
18061067 |
2007 |
Acute myocarditis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Young males presenting with apparent isolated cardiomyopathy or acute myocarditis may harbor dystrophin mutations without overt skeletal muscle pathology.
|
20206892 |
2010 |
Adolescent idiopathic scoliosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Data from human diseases or dysfunctions identified 19 genes whose mutation was associated with human BMD: 9 genes each for human height and osteoporosis; 4 genes each for human osteoarthritis (OA) and fracture risk; and 2 genes each for adolescent idiopathic scoliosis (AIS), periodontitis, osteosarcoma growth, and tooth development.
|
31646011 |
2019 |
Adult Erythroleukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The replication structure of the human dystrophin gene in cultured masculine erythroleukemia cells (line HEL 92.1.7) was studied using the replication direction assay.
|
9339357 |
1997 |
Adult Rhabdomyosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
In mice, the loss of either of two DGC proteins, dystrophin or α-sarcoglycan, is associated with a high incidence of rhabdomyosarcoma (RMS).
|
31054580 |
2019 |
Adult Rhabdomyosarcoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the LNA-based SSO cocktails display high exon 51 skipping activities on endogenous DMD mRNA in human rhabdomyosarcoma cells.
|
29768479 |
2018 |
Adult Rhabdomyosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
CRISPR/Cas9-mediated gene editing of the DMD gene in the RD cell line will allow for assessment of SSOs targeting most of the rare mutations in the DMD gene.
|
29339778 |
2018 |
Adult Rhabdomyosarcoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
This oligonucleotide strongly promoted exon 53 skipping in a dose-dependent manner during pre-mRNA splicing in rhabdomyosarcoma and DMD patient-derived cells, and it restored dystrophin protein levels in patient-derived cells.
|
30388618 |
2018 |
Adult Rhabdomyosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Dystrophin inhibits myogenic sarcoma cell migration, invasion, anchorage independence and invadopodia formation, and dystrophin inactivation was found in 96%, 100% and 62% of metastatic GIST, embryonal RMS and LMS samples, respectively.
|
24793134 |
2014 |
Adult type dermatomyositis
|
0.020 |
Biomarker
|
disease |
BEFREE |
This produced a 15-17-fold increase of DRP over normal in DMD/BMD and 4-10-fold increase over normal in PM and DM on immunoblots.
|
8440993 |
1993 |