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UnknownAbnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.
Patients with Marfan syndrome (MFS), a multisystem disorder caused by mutations in the gene encoding the extracellular matrix (ECM) protein fibrillin 1, are unusually vulnerable to stress-induced cardiac dysfunction. The prevailing view is that MFS-associated cardiac dysfunction is the result of aor...
S-EPMC3934180 | biostudies-literature
UnknownNusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe muscle atrophy and weakness in the limbs and trunk. We report interim efficacy and safety outcomes as of March 29, 2019 in 25 children with genetically diagnosed SMA who first received nusinersen in infancy while pre...
S-EPMC7127286 | biostudies-literature
Genomics2013-11-19-17-24-36-breez-MB-2013-10-18-Whole_exome_DNAseq_Medulloblastoma - samples
Illumina HiSeq sequence data (with >80x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009); duplicate reads were removed from the final BAM file. No realignment or recalibration was performed. The whole exome sequencing data of 20 SHH medulloblastomas ...
EGAD00001000698 | EGA
GenomicsSHH medulloblastoma samples
Sequencing data of human SHH medulloblastoma samples
EGAS00001000607 | EGA
UnknownClinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma.

Purpose

We sought to investigate clinical outcomes of relapsed medulloblastoma and to compare molecular features between patient-matched diagnostic and relapsed tumors.

Methods

Children and infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced ...
S-EPMC8078396 | biostudies-literature
UnknownA global metagenomic map of urban microbiomes and antimicrobial resistance.
We present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60 cities over 3 years, representing the first systematic, worldwide catalog of the urban microbial ecosystem. This atlas provides an annotated, geospatial profile of microbial strains, functional characteristics, an...
S-EPMC8238498 | biostudies-literature
UnknownRelationship Between Severity of Ischemia and Coronary Artery Disease for Different Stress Test Modalities in the ISCHEMIA Trial.

Background

The relationship between the extent and severity of stress-induced ischemia and the extent and severity of anatomic coronary artery disease (CAD) in patients with obstructive CAD is multifactorial and includes the intensity of stress achieved, type of testing used, presence and ex...
S-EPMC11658795 | biostudies-literature
UnknownSafety and efficacy of combined portal and hepatic vein embolisation in patients with colorectal liver metastases (DRAGON1): a multicentre, single-arm clinical trial.

Background

Major liver resection is often required for complete clearance of colorectal liver metastases (CRLM). Patients with insufficient future liver remnant (FLR) volume/function are at high risk of post-hepatectomy liver failure (PHLF) and require FLR hypertrophy-inducing procedures to ...
S-EPMC12008670 | biostudies-literature
UnknownGenetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620). W...
S-EPMC2922003 | biostudies-literature
UnknownTowards cascading genetic risk in Alzheimer's disease.
Alzheimer's disease typically progresses in stages, which have been defined by the presence of disease-specific biomarkers: amyloid (A), tau (T) and neurodegeneration (N). This progression of biomarkers has been condensed into the ATN framework, in which each of the biomarkers can be either positive...
S-EPMC11292901 | biostudies-literature
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