[PDF] Top 20 Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
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Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
... role in normal cardiac function. The generation and propagation of electrical impulses throughout the atria, the ventricles, and the Purkinje network are critically dependent on normal ... Voir le document complet
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The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance
... investigated the cosegregation of SCN5A mutations with BrS among large genotyped families ( 41 ...). SCN5A mutations exhibit low penetrance (61% after drug testing) in families, lead- ... Voir le document complet
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Phenotypes Associated with Down-Regulation of Sl-IAA27 Support Functional Diversity Among Aux/IAA Family Members in Tomato
... promotes the association of Aux/IAAs with the SKP1-Cullin-F-box (SCF) complex through binding to the auxin transport inhibitor response1 (TIR1) or to its paralogs AUXIN RECEPTOR F-BOX (AFB) ... Voir le document complet
14
Common variants at five new loci associated with early-onset inflammatory bowel disease.
... subjects with Crohn's disease and ulcerative colitis, and healthy ...of the biopsies for IBD cases and healthy controls were obtained from the ascending colon, with the exception of one ... Voir le document complet
13
A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain.
... evaluated the accuracy of the this algorithm, by carrying out haplotype reconstruction in parallel, using the Bayesian statistical method implemented in Phase ...obtained with ... Voir le document complet
27
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
... find the molecular basis of this apparently distinct entity, we decided to perform exome sequencing in both affected ...data, the paper by Gordon et ...considered in this family as ... Voir le document complet
13
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
... 33 phenotypes observed in P1-2 in the present ...interfering with its assembly and attenuating the innate immune ...function in the RIG-I/MDA5/ MAVS protective IFN ... Voir le document complet
9
Identification of Genomic Variants Associated with Adolescent Idiopathic Scoliosis (AIS) in French-Canadian Population
... for the irreproducibility of genetic associations lie in various factors that affect the statistical power in association studies [Hirschhorn, Lohmueller, Byrne et ...power in ... Voir le document complet
96
Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population
... minute in Sub-Saharan Africa [ 51 , 52 ...resulted in the genetic retention in malaria endemic areas of certain allelic variants that confer partial protection against ...disease. ... Voir le document complet
19
Respiratory Sinus Arrhythmia Is Prospectively Associated With Early Trajectories of Acculturation Among New International Students
... scores. In line with other longitudinal studies ...2012), the results showed an increase in mainstream orientation ...scores. The rapid changes observed here – within a few months – ... Voir le document complet
18
Three Common Intronic Variants in the Maternal and Fetal Thiamine Pyrophosphokinase Gene (TPK1) are Associated with Birth Weight
... 2000). In summary, several common polymorphisms of the TPK1 gene appear to be associated with birth ...that the currently asso- ciated SNPs are only markers of neighbouring uniden- ... Voir le document complet
9
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
... of the patients’ platelets displayed giant α-granules, which is a character- istic feature of PTS 24,25 and have been previously reported in FLI1 variant-associated thrombocytopenia, 8 albeit ... Voir le document complet
12
Tyrosine phosphorylation of RNA polymerase II CTD is associated with antisense promoter transcription and active enhancers in mammalian cells
... Tyr1P in yeast, which is located at gene bodies and proposed to play a role in elongation by impairing termination factor recruitment ( Mayer et ...divergent in both length and sequence between yeast ... Voir le document complet
20
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
... represent the major cause of PCD with IDA defects and axonemal disorganiza- ...analyses in selected patients ensure to find mutations with high probability, even if clinical or ciliary ... Voir le document complet
2
Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage
... to the manufacturer’s ...by the Gentyane facility (INRA Crouël, Clermont-Ferrand, ...cycles) with the primer pool and the TaqMan PreAmplification Master Mix ...remove the ... Voir le document complet
36
Classification of the fibronectin variants with curvelets
... of the extracellular matrix (ECM) in the evolution of certain diseases ...captures the physical properties of the ECM, could convey certain connections between the topology of ... Voir le document complet
5
APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types
... associated with any known transcription factors, the motifs for nuclear factor 1 (NF1), activator protein 1 (AP-1) and nuclear factor kB (NF-kB) were markedly enriched in the promoters ... Voir le document complet
34
Control of Huntington’s Disease-Associated Phenotypes by the Striatum-Enriched Transcription Factor Foxp2
... protein in the striatum, as compared to their isogenic controls and measured by western blot analysis ...0.1 in R6/2 normalized to controls) ( Figure 4 B). A decrease in Foxp2 mRNA expression ... Voir le document complet
10
Towards a gene-level map of resilience to genetic variants associated with autism
... of the difference in volume in different brain regions between carriers and non-carriers of HC-S-LoFs among UK-Biobank ...method with two clusters. All individuals carrying HC- S-LoFs were ... Voir le document complet
31
PAC: Privacy-Preserving Arrhythmia Classification with Neural Networks
... preserving arrhythmia classification with neural networks. Authors in [2] use 2PC combined with a partially homomorphic encryption ...between the client who protects the input ... Voir le document complet
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