Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19

Sebastian J. Theobald, Alexander Simonis, Theodoros Georgomanolis, +30

EMBO Molecular Medicine

Inflammasome ActivationInnate Immune SystemViral PathogenesisImmunologyImmune Regulation +19

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Daniela A. Braun, Svjetlana Lovric, David Schapiro, +55

Journal of Clinical Investigation

Glomerular DiseaseGeneticsRenal PathologySteroid-resistant Nephrotic SyndromeRenal Inflammation +20

Next Generation Sequencing of miRNAs – Strategies, Resources and Methods

Susanne Motameny, Stefanie Wolters, Peter Nürnberg, +1

Genes

EngineeringGeneticsMirna SequencingGenomicsMolecular Diagnostics +16

Mutations of <i>KIF14</i> cause primary microcephaly by impairing cytokinesis

Abubakar Moawia, Ranad Shaheen, Sajida Rasool, +23

Annals of Neurology

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Göknur Haliloğlu, Kerstin Becker, Beril Talim, +6

Journal of Human Genetics

Distal Muscle WeaknessGenetic DisorderDistal ArthrogryposisGeneticsMedical Genetics +4

A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle

Motoharu Awazawa, Paula Gabel, Eva Tsaousidou, +11

Nature Medicine

ObesityMetabolic SyndromeInsulin SignalingMolecular PhysiologyMicrorna Screen Reveals +13

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Guillaume Butler‐Laporte, Gundula Povysil, Jack A. Kosmicki, +89

PLoS Genetics

Genome-wide Association StudyDisease SusceptibilityRare VariantsExome-wide Association StudyGenetic Epidemiology +10

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, +10

Neurobiology of Disease

Synaptic PlasticityMolecular NeuroscienceNeurophysiologyNeuropsychiatryNeuroscience +6

<i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration

Neringa Jurkutė, Costin Leu, Hans‐Martin Pogoda, +16

Annals of Neurology

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, +30

The American Journal of Human Genetics

Transcriptional RegulationSystems BiologySignal TransductionMolecular PhysiologyDisease Mechanism +7