Search Results - "Peter, A T"
-
1
Mercury 4.0: from visualization to analysis, design and prediction
Published in Journal of applied crystallography (01-02-2020)“…The program Mercury, developed at the Cambridge Crystallographic Data Centre, was originally designed primarily as a crystal structure visualization tool. Over…”
Get full text
Journal Article -
2
Benchmarking deep learning splice prediction tools using functional splice assays
Published in Human mutation (01-07-2021)“…Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger RNA splicing. Though genetic variants in the canonical splice motifs…”
Get full text
Journal Article -
3
Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
Published in Genome Biology (29-03-2018)“…The multifaceted control of gene expression requires tight coordination of regulatory mechanisms at transcriptional and post-transcriptional level. Here, we…”
Get full text
Journal Article -
4
Endosomal and Phagosomal SNAREs
Published in Physiological reviews (01-07-2018)“…The soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) protein family is of vital importance for organelle communication. The…”
Get full text
Journal Article -
5
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
Published in Scientific reports (03-10-2017)“…Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental…”
Get full text
Journal Article -
6
Fluorescence Lifetime Imaging of pH along the Secretory Pathway
Published in ACS chemical biology (21-01-2022)“…Many cellular processes are dependent on correct pH levels, and this is especially important for the secretory pathway. Defects in pH homeostasis in distinct…”
Get full text
Journal Article -
7
Anhydrous Proton Conduction Through a Chemically Robust Electrolyte Enabling a High‐Temperature Non‐Precious Metal Catalyzed Fuel Cell
Published in Small (Weinheim an der Bergstrasse, Germany) (01-04-2024)“…Fuel cells offer great promise for portable electricity generation, but their use is currently limited by their low durability, excessive operating…”
Get full text
Journal Article -
8
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Published in Nature communications (28-10-2021)“…The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the…”
Get full text
Journal Article -
9
Will the Digital Mass Filter Be the Next High-Resolution High-Mass Analyzer?
Published in Journal of the American Society for Mass Spectrometry (06-10-2021)“…Mass filter operation in higher stability zones is known to provide better resolution. Unfortunately, for sine driven instruments, higher stability zone…”
Get full text
Journal Article -
10
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Published in Nature communications (28-02-2024)“…Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative…”
Get full text
Journal Article -
11
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation
Published in International journal of molecular sciences (30-06-2020)“…Glycosylation is an important post-translational modification for both intracellular and secreted proteins. For glycosylation to occur, cargo must be…”
Get full text
Journal Article -
12
Digital Mass Analysis in a Linear Ion Trap without Auxiliary Waveforms
Published in Journal of the American Society for Mass Spectrometry (02-01-2020)“…Mass analysis in a linear ion trap is traditionally performed using resonant ejection induced by auxiliary waveforms. For sinusoidally driven ion traps without…”
Get full text
Journal Article -
13
Implementing Digital-Waveform Technology for Extended m/z Range Operation on a Native Dual-Quadrupole FT-IM-Orbitrap Mass Spectrometer
Published in Journal of the American Society for Mass Spectrometry (01-12-2021)“…Here, we describe a digital-waveform dual-quadrupole mass spectrometer that enhances the performance of our drift tube FT-IMS high-resolution Orbitrap mass…”
Get full text
Journal Article -
14
Gateways to the FANTOM5 promoter level mammalian expression atlas
Published in Genome Biology (05-01-2015)“…The FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE. Based…”
Get full text
Journal Article -
15
Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer
Published in PloS one (08-11-2016)“…Gene coexpression network analysis is a powerful "data-driven" approach essential for understanding cancer biology and mechanisms of tumor development. Yet,…”
Get full text
Journal Article -
16
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
Published in Human mutation (01-10-2019)“…Phenotype‐based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently…”
Get full text
Journal Article -
17
Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT
Published in Scientific reports (05-09-2024)“…Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is the leading cause of childhood chronic kidney failure and a significant cause of chronic kidney…”
Get full text
Journal Article -
18
Human Monocyte-Derived Dendritic Cells Produce Millimolar Concentrations of ROS in Phagosomes Per Second
Published in Frontiers in immunology (29-05-2019)“…Neutrophils kill ingested pathogens by the so-called oxidative burst, where reactive oxygen species (ROS) are produced in the lumen of phagosomes at very high…”
Get full text
Journal Article -
19
The effects of low levels of dystrophin on mouse muscle function and pathology
Published in PloS one (16-02-2012)“…Duchenne muscular dystrophy (DMD) is a severe progressive muscular disorder caused by reading frame disrupting mutations in the DMD gene, preventing the…”
Get full text
Journal Article -
20
Oxidized phagosomal NOX2 complex is replenished from lysosomes
Published in Journal of cell science (01-04-2017)“…In dendritic cells, the NADPH oxidase 2 complex (NOX2) is recruited to the phagosomal membrane during antigen uptake. NOX2 produces reactive oxygen species…”
Get full text
Journal Article