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Cardiac phenotypes
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Caudal regression syndrome is a rare complex congenital anomaly with reduced penetrance and phenotypic variability characterized by osseous defects of the caudal spine, lower limb anomalies, and accompanying genitourinary, gastrointestinal/anorectal, and cardiac system soft tissue defects.
5p
vitiki
30-01-2024
3
2
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Describe the magnetic resonance imaging characteristics of hypertrophic cardiomyopathy. Subjects and methods: A prospective, cross-sectional study on 30 patients with hypertrophic cardiomyopathy at the Vietnam Heart Institute, undergoing cardiac magnetic resonance imaging at the Center for Radiology, Bach Mai Hospital from July 2021 to September 2022.
8p
vigamora
23-05-2023
6
2
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Little is known about the impact of trans-acting genetic variation on the rates with which proteins are synthesized by ribosomes. Here, we investigate the influence of such distant genetic loci on the efficiency of mRNA translation and define their contribution to the development of complex disease phenotypes within a panel of rat recombinant inbred lines.
34p
viarchimedes
26-01-2022
10
0
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Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes.
8p
vimariana2711
22-12-2020
6
1
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Cardiotoxicity, characterized by severe cardiac dysfunction, is a major problem in patients treated with different classes of anticancer drugs. Development of predictable human-based models and assays for drug screening are crucial for preventing potential drug-induced adverse effects. Current animal in vivo models and cell lines are not always adequate to represent human biology.
12p
vicolorado2711
22-10-2020
21
0
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Regulator of G protein signaling (RGS) proteins suppress G protein coupled receptor signaling by catalyzing the hydrolysis of Gα-bound guanine nucleotide triphosphate. Transgenic mice in which RGS-mediated regulation of Gαi2 is lost (RGS insensitive Gαi2 G184S) exhibit beneficial (protection against ischemic injury) and detrimental (enhanced fibrosis) cardiac phenotypes.
13p
vienzym2711
03-04-2020
23
2
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: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.
9p
vivalanbo2711
19-03-2020
18
1
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We achieved possibility of isolation, characterization human umbilical cord blood endothelial progenitor cells (EPCs), examination potency of EPCs to form new blood vessels and differentiation into cardiomyoctes in canines with acute myocardial infarction (AMI). EPCs were separated and cultured from umbilical cord blood. Their phenotypes were confirmed by uptake of double stains dioctadecyl tetramethylindocarbocyanine-labeled acetylated LDL and FITClabeled Ulex europaeus agglutinin 1 (DILDL-UEA-1). EPCs of cord blood were counted.
12p
trinhthamhodang1
16-11-2019
23
0
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While cardiac hypertrophy elicited by pathological stimuli eventually leads to cardiac dysfunction, exercise-induced hypertrophy does not. This sug-gests that a beneficial hypertrophic phenotype exists. In search of an under-lying molecular substrate we used microarray technology to identify cardiac gene expression in response to exercise. Rats exercised for seven weeks on a treadmill were characterized by invasive blood pressure mea-surements and echocardiography.
12p
awards
06-04-2013
33
2
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Genomics and other "omics” technologies have largely contributed to the identification and the development of biomarkers. Due to genetic causes of variability among individuals, genotyping and gene expression analysis are indeed key elements of the emergence of personalised medicine. However, genomic technologies have limitations (functional significance of genetic variants, false negatives, etc) and cannot encompass all approaches for the development of stratification biomarkers.
8p
quynho77
14-11-2012
46
0
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