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ProteomicsPeriostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion [r(CUG)exp] located in the 3' untranslated region of the DMPK gene. Symptoms include skeletal and cardiac muscle dysfunction and fibrosis. In DM1, there is a lack of establi...
ORGANISM(S): Mus musculus (Mouse) 
2023-05-02 | PXD024107 | Pride
Dm1 biomarker Dmsxl Dmpk Clinical proteomics Ctg-trinucleotide expansion Steinert’s disease 
TranscriptomicsDystrophia Myotonica Biomarker Discovery Initiative
As part of the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) a dataset was obtained from 35 participants, including 31 Myotonic Dystrophy type 1 (DM1) cases and four unaffected controls. All DM1 cases in this research were heterozygous for the abnormally expanded CTG repeat. The mode o...
ORGANISM(S): Homo sapiens 
2019-05-31 | E-MTAB-7983 | biostudies-arrayexpress
ProteomicsLarge-scale Proteomics Profiling of Peripheral Blood of DM1 patients identifies biomarkers for disease severity and physical activity - Validation cohort
Myotonic Dystrophy type 1 (DM1) is a progressive multisystem disease with large heterogeneity in disease onset, symptom development, progression rates and severity. This poses significant challenges to the design of clinical trials. To overcome some of these challenges, this study aims to identify p...
ORGANISM(S): Homo sapiens (Human) 
2026-01-19 | PXD060035 | Pride
UnknownElevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1).
Not available
S-EPMC9363395 | biostudies-literature
GenomicsBlood transcriptome profiling links immunity to disease severity in myotonic dystrophy type 1 (DM1).
The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to a) ascertain if transcriptome changes were associated with increa...
EGAS00001006926 | EGA
GenomicsBiomarker Data from KATHERINE: A Phase III Study of Adjuvant Trastuzumab Emtansine versus Trastuzumab in Patients with Residual Invasive Disease after Neoadjuvant Therapy for HER2-Positive Breast Cancer
KATHERINE (NCT01772472) compared adjuvant trastuzumab emtansine (T-DM1) and trastuzumab following neoadjuvant HER2-targeted therapy and chemotherapy in patients with residual invasive breast cancer at surgery. Exploratory analyses investigated the relationship between invasive disease-free survival ...
EGAS00001006229 | EGA
UnknownBiomarker Data from the Phase III KATHERINE Study of Adjuvant T-DM1 versus Trastuzumab for Residual Invasive Disease after Neoadjuvant Therapy for HER2-Positive Breast Cancer.
Not available
S-EPMC10102844 | biostudies-literature
UnknownFluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).
Not available
S-EPMC9917343 | biostudies-literature
UnknownOverexpression of Staufen1 in DM1 mouse skeletal muscle exacerbates dystrophic and atrophic features.
Not available
S-EPMC7399530 | biostudies-literature
UnknownBlood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
Not available
S-EPMC8954763 | biostudies-literature
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