0000000000054804

AUTHOR

Stephan Weißbach

showing 2 related works from this author

More than a pore: How voltage-gated calcium channels act on different levels of neuronal communication regulation.

2021

ABSTRACT Voltage-gated calcium channels (VGCCs) represent key regulators of the calcium influx through the plasma membrane of excitable cells, like neurons. Activated by the depolarization of the membrane, the opening of VGCCs induces very transient and local changes in the intracellular calcium concentration, known as calcium nanodomains, that in turn trigger calcium-dependent signaling cascades and the release of chemical neurotransmitters. Based on their central importance as concierges of excitation-secretion coupling and therefore neuronal communication, VGCCs have been studied in multiple aspects of neuronal function and malfunction. However, studies on molecular interaction partners …

0301 basic medicineα2δ subunitsBiophysicschemistry.chemical_elementReviewNeurotransmissionCalciumBiochemistrySynaptic TransmissionCalcium in biology03 medical and health sciencesvoltage-induced calcium releasealternative splicing0302 clinical medicinevoltage-gated calcium channelsCavβ subunitsVGCC auxiliary subunitsCalcium SignalingIon channelNeuronssynaptogenesisVoltage-dependent calcium channelChemistryRyanodine receptorDepolarization030104 developmental biologyIon channelsCalciumgene regulationNeuroscience030217 neurology & neurosurgeryIntracellularResearch ArticleChannels (Austin, Tex.)
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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines

2021

Abstract Background Next Generation Sequencing (NGS) is the fundament of various studies, providing insights into questions from biology and medicine. Nevertheless, integrating data from different experimental backgrounds can introduce strong biases. In order to methodically investigate the magnitude of systematic errors in single nucleotide variant calls, we performed a cross-sectional observational study on a genomic cohort of 99 subjects each sequenced via (i) Illumina HiSeq X, (ii) Illumina HiSeq, and (iii) Complete Genomics and processed with the respective bioinformatic pipeline. We also repeated variant calling for the Illumina cohorts with GATK, which allowed us to investigate the e…

Aginglcsh:QH426-470lcsh:BiotechnologyLongevity610 MedizinGATK ; Next-generation sequencing (NGS) technologies ; Illumina ; Longevity ; Complete genomics ; Healthy aging ; Wellderly ; Aging ; Platform-biasesPlatform-biasesPolymorphism Single Nucleotide570 Life sciencesIlluminaNext-generation sequencing (NGS) technologieslcsh:TP248.13-248.65610 Medical sciences620 Engineering and allied operationsHumansComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsGATKGenomicsPhysik (inkl. Astronomie)620 Ingenieurwissenschaften und MaschinenbauWellderlylcsh:GeneticsCross-Sectional StudiesHealthy agingComplete genomics570 BiowissenschaftenResearch Article
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