Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Spatiotemporal distribution of fibrinogen in marmoset and human inflammatory demyelination

(2018) Nathanael J Lee et al.   BRAIN

A novel PADRE-Kv1.3 vaccine effectively induces therapeutic antibodies and ameliorates experimental autoimmune encephalomyelitis in rats

(2018) Cheng Fan et al.   CLINICAL IMMUNOLOGY

Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk

(2018) Yan Zhang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Beneficial Effects of the Calcium Channel Blocker CTK 01512-2 in a Mouse Model of Multiple Sclerosis

(2018) Rodrigo B. M. Silva et al.   MOLECULAR NEUROBIOLOGY

Unified understanding of MS course is required for drug development

(2018) Timothy Coetzee et al.   Nature Reviews Neurology

Fibrinogen in neurological diseases: mechanisms, imaging and therapeutics

(2018) Mark A. Petersen et al.   NATURE REVIEWS NEUROSCIENCE

P2X7 receptor mediates NLRP3-dependent IL-1β secretion and parasite proliferation in Toxoplasma gondii-infected human small intestinal epithelial cells

(2018) Juan-Hua Quan et al.   Parasites & Vectors

Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders

(2018) Mikhail M. Kostik et al.   RHEUMATOLOGY INTERNATIONAL

Nfat/calcineurin signaling promotes oligodendrocyte differentiation and myelination by transcription factor network tuning

(2018) Matthias Weider et al.   Nature Communications

Dysregulation of RNF213 promotes cerebral hypoperfusion

(2018) Takaaki Morimoto et al.   Scientific Reports

Worldwide prevalence of familial multiple sclerosis: A systematic review and meta-analysis

(2018) Mohammad Hossein Harirchian et al.   Multiple Sclerosis and Related Disorders

NLR-Dependent Regulation of Inflammation in Multiple Sclerosis

(2018) Marjan Gharagozloo et al.   Frontiers in Immunology

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis

(2018) Iliana Michailidou et al.   Acta Neuropathologica Communications

Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

(2018) Elia Gil-Varea et al.   Journal of Neuroinflammation

A rare P2RX7 variant in a Hungarian family with multiple sclerosis

(2018) Tobias Zrzavy et al.   Multiple Sclerosis and Related Disorders

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis

(2017) Anthony L. Traboulsee et al.   HUMAN GENETICS

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis

(2017) A Dessa Sadovnick et al.   HUMAN MUTATION

The mitochondrial Na+/Ca2+ exchanger is essential for Ca2+ homeostasis and viability

(2017) Timothy S. Luongo et al.   NATURE

Amelioration of amyloid β-induced retinal inflammatory responses by a LXR agonist TO901317 is associated with inhibition of the NF-κB signaling and NLRP3 inflammasome

(2017) Chunyan Lei et al.   NEUROSCIENCE

Endothelial Wnt/β-catenin signaling reduces immune cell infiltration in multiple sclerosis

(2017) Justin E. Lengfeld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nimodipine fosters remyelination in a mouse model of multiple sclerosis and induces microglia-specific apoptosis

(2017) Andrea Schampel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plasmin(ogen) at the Nexus of Fibrinolysis, Inflammation, and Complement

(2017) Jonathan Foley   SEMINARS IN THROMBOSIS AND HEMOSTASIS

UBR2 Enriched in p53 Deficient Mouse Bone Marrow Mesenchymal Stem Cell-Exosome Promoted Gastric Cancer Progression via Wnt/β-Catenin Pathway

(2017) Jiahui Mao et al.   STEM CELLS

The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature

(2017) Qian Zhang et al.   World Neurosurgery

Expression of a urokinase-type plasminogen activator during tumor growth leads to angiogenesis via galanin activation in tumor-bearing mice

(2017) Hiroyuki Yamamoto et al.   FEBS Open Bio

Suppression of Inflammatory Demyelinaton and Axon Degeneration through Inhibiting Kv3 Channels

(2017) Peter Jukkola et al.   Frontiers in Molecular Neuroscience

Extensive Basal Level Activation of Complement Mannose-Binding Lectin-Associated Serine Protease-3: Kinetic Modeling of Lectin Pathway Activation Provides Possible Mechanism

(2017) Gábor Oroszlán et al.   Frontiers in Immunology

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

(2017) Laura Ortega-Moreno et al.   PLoS One

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

(2017) Ales Maver et al.   Scientific Reports

Genome-wide association study in essential tremor identifies three new loci

(2016) Stefanie H. Müller et al.   BRAIN

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

(2016) Hansen Lui et al.   CELL

Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness

(2016) M. Neuillé et al.   CLINICAL GENETICS

Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca 2+ /NFAT Signaling

(2016) Beate Scholz et al.   DEVELOPMENTAL CELL

Complementing the inflammasome

(2016) Martha Triantafilou et al.   IMMUNOLOGY

The cardiomyocyte protein αT-catenin contributes to asthma through regulating pulmonary vein inflammation

(2016) Stephen Sai Folmsbee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Beyond the inflammasome: regulatory NOD-like receptor modulation of the host immune response following virus exposure

(2016) Sheryl Coutermarsh-Ott et al.   JOURNAL OF GENERAL VIROLOGY

Analysis of CH25H in multiple sclerosis and neuromyelitis optica

(2016) Amanda L. Forwell et al.   JOURNAL OF NEUROIMMUNOLOGY

Angiogenic factors are associated with multiple sclerosis

(2016) Sajad Karampoor et al.   JOURNAL OF NEUROIMMUNOLOGY

Complement is activated in progressive multiple sclerosis cortical grey matter lesions

(2016) Lewis M. Watkins et al.   Journal of Neuroinflammation

Bidirectional Crosstalk between C5a Receptors and the NLRP3 Inflammasome in Macrophages and Monocytes

(2016) Mikel D. Haggadone et al.   MEDIATORS OF INFLAMMATION

Microglia-Induced Activation of Noncanonical Wnt Signaling Aggravates Neurodegeneration in Demyelinating Disorders

(2016) Takeshi Shimizu et al.   MOLECULAR AND CELLULAR BIOLOGY

Activation of Wnt signaling promotes hippocampal neurogenesis in experimental autoimmune encephalomyelitis

(2016) Reiner Schneider et al.   Molecular Neurodegeneration

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Complement in disease: a defence system turning offensive

(2016) Daniel Ricklin et al.   Nature Reviews Nephrology

Case-Control Studies Are Not Familial Studies

(2016) Zhe Wang et al.   NEURON

NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk

(2016) Jack Antel et al.   NEURON

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

(2016) Zhe Wang et al.   NEURON

Complement and microglia mediate early synapse loss in Alzheimer mouse models

(2016) S. Hong et al.   SCIENCE

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

(2016) A. Dessa Sadovnick et al.   G3-Genes Genomes Genetics

Roles of the mitochondrial Na+-Ca2+ exchanger, NCLX, in B lymphocyte chemotaxis

(2016) Bongju Kim et al.   Scientific Reports

Ion Channels in Innate and Adaptive Immunity

(2015) Stefan Feske et al.   Annual Review of Immunology

The Inflammasomes and Autoinflammatory Syndromes

(2015) Lori Broderick et al.   Annual Review of Pathology-Mechanisms of Disease

Fibrinolysis and the control of blood coagulation

(2015) John C. Chapin et al.   BLOOD REVIEWS

Latitude, sun exposure and vitamin D supplementation: associations with quality of life and disease outcomes in a large international cohort of people with multiple sclerosis

(2015) George A. Jelinek et al.   BMC Neurology

New functions for alpha-catenins in health and disease: from cancer to heart regeneration

(2015) Alexia Vite et al.   CELL AND TISSUE RESEARCH

NFAT1 deficit and NFAT2 deficit attenuate EAE via different mechanisms

(2015) Lena Dietz et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Disease-modifying treatments for multiple sclerosis - a review of approved medications

(2015) Ø. Torkildsen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Leucine-rich repeat kinase 2-sensitive Na+/Ca2+ exchanger activity in dendritic cells

(2015) Jing Yan et al.   FASEB JOURNAL

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

(2015) Ben J. Gu et al.   HUMAN MOLECULAR GENETICS

The NLRP12 Sensor Negatively Regulates Autoinflammatory Disease by Modulating Interleukin-4 Production in T Cells

(2015) John R. Lukens et al.   IMMUNITY

The nod-like receptor, Nlrp12, plays an anti-inflammatory role in experimental autoimmune encephalomyelitis

(2015) Marjan Gharagozloo et al.   Journal of Neuroinflammation

Reincarnation of ancient links between coagulation and complement

(2015) E. M. Conway   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Increased inflammasome related gene expression profile in PBMC may facilitate T helper 17 cell induction in multiple sclerosis

(2015) E. Peelen et al.   MOLECULAR IMMUNOLOGY

Inflammasomes: mechanism of action, role in disease and therapeutics

(2015) Haitao Guo et al.   NATURE MEDICINE

Plasminogen Activator Inhibitor-1 Antagonist TM5484 Attenuates Demyelination and Axonal Degeneration in a Mice Model of Multiple Sclerosis

(2015) Nicolas Pelisch et al.   PLoS One

Complement Component C3 and Butyrylcholinesterase Activity Are Associated with Neurodegeneration and Clinical Disability in Multiple Sclerosis

(2015) Shahin Aeinehband et al.   PLoS One

Mitochondria: diversity in the regulation of the NLRP3 inflammasome

(2015) Prajwal Gurung et al.   TRENDS IN MOLECULAR MEDICINE

Mitochondria, calcium, and tumor suppressor Fus1: At the crossroad of cancer, inflammation, and autoimmunity

(2015) Roman Uzhachenko et al.   Oncotarget

Modulation of Closed−State Inactivation in Kv2.1/Kv6.4 Heterotetramers as Mechanism for 4−AP Induced Potentiation

(2015) Jeroen I. Stas et al.   PLoS One

Emerging pathophysiological roles for fibrinolysis

(2014) Chantelle M. Rein-Smith et al.   CURRENT OPINION IN HEMATOLOGY

Multiple Sclerosis: Current and Emerging Disease-Modifying Therapies and Treatment Strategies

(2014) Dean M. Wingerchuk et al.   MAYO CLINIC PROCEEDINGS

The Wnt/β-Catenin Signaling Pathway Controls the Inflammatory Response in Infections Caused by Pathogenic Bacteria

(2014) Octavio Silva-García et al.   MEDIATORS OF INFLAMMATION

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Dysfunctional Wnt/β-catenin signaling contributes to blood–brain barrier breakdown in Alzheimer’s disease

(2014) Lumei Liu et al.   NEUROCHEMISTRY INTERNATIONAL

Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression

(2014) Anthony L. Traboulsee et al.   NEUROGENETICS

Atlas of Multiple Sclerosis 2013: A growing global problem with widespread inequity

(2014) P. Browne et al.   NEUROLOGY

Consensus design of a NOD receptor leucine rich repeat domain with binding affinity for a muramyl dipeptide, a bacterial cell wall fragment

(2014) Rachael Parker et al.   PROTEIN SCIENCE

Vitamin D as an Early Predictor of Multiple Sclerosis Activity and Progression

(2014) Alberto Ascherio et al.   JAMA Neurology

Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients

(2013) Toshiaki Hitomi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Differential regulation of Wnt/beta-catenin signaling by Liver X Receptors in Schwann cells and oligodendrocytes

(2013) Ghjuvan’Ghjacumu Shackleford et al.   BIOCHEMICAL PHARMACOLOGY

C3a modulates IL-1  secretion in human monocytes by regulating ATP efflux and subsequent NLRP3 inflammasome activation

(2013) E. Asgari et al.   BLOOD

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

(2013) Nelly Abdelfatah et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cutting Edge: The NLRP3 Inflammasome Links Complement-Mediated Inflammation and IL-1  Release

(2013) F. Laudisi et al.   JOURNAL OF IMMUNOLOGY

Mitochondrial Exchanger NCLX Plays a Major Role in the Intracellular Ca2+ Signaling, Gliotransmission, and Proliferation of Astrocytes

(2013) J. Parnis et al.   JOURNAL OF NEUROSCIENCE

The SLC8 gene family of sodium–calcium exchangers (NCX) – Structure, function, and regulation in health and disease

(2013) Daniel Khananshvili   MOLECULAR ASPECTS OF MEDICINE

Sterols and oxysterols in immune cell function

(2013) Nathanael J Spann et al.   NATURE IMMUNOLOGY

STX6 rs1411478 is not associated with increased risk of Parkinson's disease

(2013) Joanne Trinh et al.   PARKINSONISM & RELATED DISORDERS

Multiple functions of the noncanonical Wnt pathway

(2013) Eva Gómez-Orte et al.   TRENDS IN GENETICS

Wnt your brain be inflamed? Yes, it Wnt!

(2013) Bianca Marchetti et al.   TRENDS IN MOLECULAR MEDICINE

Ligand action on sodium, potassium, and calcium channels: role of permeant ions

(2013) Boris S. Zhorov et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Recognition of Bacteria by Inflammasomes

(2012) Jakob von Moltke et al.   Annual Review of Immunology

NFAT control of innate immunity

(2012) J. Fric et al.   BLOOD

Identification of Selective Inhibitors of the Potassium Channel Kv1.1-1.2(3)by High-Throughput Virtual Screening and Automated Patch Clamp

(2012) Sören J. Wacker et al.   ChemMedChem

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

Kv1.3 Deletion Biases T Cells toward an Immunoregulatory Phenotype and Renders Mice Resistant to Autoimmune Encephalomyelitis

(2012) A. R. Gocke et al.   JOURNAL OF IMMUNOLOGY

Complement Protein C1q Directs Macrophage Polarization and Limits Inflammasome Activity during the Uptake of Apoptotic Cells

(2012) M. E. Benoit et al.   JOURNAL OF IMMUNOLOGY

The calcineurin–NFAT pathway allows for urokinase receptor-mediated beta3 integrin signaling to cause podocyte injury

(2012) Bin Zhang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

P2X4 Receptors Influence Inflammasome Activation after Spinal Cord Injury

(2012) J. P. de Rivero Vaccari et al.   JOURNAL OF NEUROSCIENCE

The complex world of WNT receptor signalling

(2012) Christof Niehrs   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

(2011) Isabelle Jéru et al.   ARTHRITIS AND RHEUMATISM

Alpha T-catenin (CTNNA3): a gene in the hand is worth two in the nest

(2011) James D. Smith et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation

(2011) Guoliang Cui et al.   JOURNAL OF CLINICAL INVESTIGATION

Interplay between LXR and Wnt/ -Catenin Signaling in the Negative Regulation of Peripheral Myelin Genes by Oxysterols

(2011) J. Makoukji et al.   JOURNAL OF NEUROSCIENCE

Pivotal role of mitochondrial Na+-Ca2+exchange in antigen receptor mediated Ca2+signalling in DT40 and A20 B lymphocytes

(2011) Bongju Kim et al.   JOURNAL OF PHYSIOLOGY-LONDON

Effects of SCR-3 on the immunosuppression accompanied with the systemic inflammatory response syndrome

(2011) Jun Li et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Coronin 2A mediates actin-dependent de-repression of inflammatory response genes

(2011) Wendy Huang et al.   NATURE

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

(2011) Caroline Rooryck et al.   NATURE GENETICS

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

(2010) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pannexin-1 hemichannel-mediated ATP release together with P2X1 and P2X4 receptors regulate T-cell activation at the immune synapse

(2010) T. Woehrle et al.   BLOOD

WNT signaling in activated microglia is proinflammatory

(2010) Carina Halleskog et al.   GLIA

Peroxisome proliferator-activated receptor δ agonists inhibit T helper type 1 (Th1) and Th17 responses in experimental allergic encephalomyelitis

(2010) Saravanan Kanakasabai et al.   IMMUNOLOGY

Peroxisome proliferator–activated receptor δ limits the expansion of pathogenic Th cells during central nervous system autoimmunity

(2010) Shannon E. Dunn et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Molecular Intercommunication between the Complement and Coagulation Systems

(2010) U. Amara et al.   JOURNAL OF IMMUNOLOGY

Steroid Receptor Coactivator 3 Is Required for Clearing Bacteria and Repressing Inflammatory Response in Escherichia coli-Induced Septic Peritonitis

(2010) Q. Chen et al.   JOURNAL OF IMMUNOLOGY

CNS-specific expression of C3a and C5a exacerbate demyelination severity in the cuprizone model

(2010) Sarah A. Ingersoll et al.   MOLECULAR IMMUNOLOGY

Identification of 5 ,6 -Epoxycholesterol as a Novel Modulator of Liver X Receptor Activity

(2010) T. J. Berrodin et al.   MOLECULAR PHARMACOLOGY

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

(2010) Jan O. Aasly et al.   MOVEMENT DISORDERS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The structure of C2b, a fragment of complement component C2 produced during C3 convertase formation

(2009) Vengadesan Krishnan et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Autocrine regulation of T-cell activation by ATP release and P2X7 receptors

(2009) Linda Yip et al.   FASEB JOURNAL

Impaired Mast Cell-Driven Immune Responses in Mice Lacking the Transcription Factor NFATc2

(2009) Marc Becker et al.   JOURNAL OF IMMUNOLOGY

Peroxisome Proliferator-Activated Receptor-γ Agonists Promote Differentiation and Antioxidant Defenses of Oligodendrocyte Progenitor Cells

(2009) Antonietta Bernardo et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mitochondrial Ca2+ Cycling Facilitates Activation of the Transcription Factor NFAT in Sensory Neurons

(2009) M.-S. Kim et al.   JOURNAL OF NEUROSCIENCE

Akt/Protein Kinase B and Glycogen Synthase Kinase-3  Signaling Pathway Regulates Cell Migration through the NFAT1 Transcription Factor

(2009) M. Yoeli-Lerner et al.   MOLECULAR CANCER RESEARCH

P2X7 Nucleotide Receptor is Coupled to GSK-3 Inhibition and Neuroprotection in Cerebellar Granule Neurons

(2009) Felipe Ortega et al.   NEUROTOXICITY RESEARCH

NCLX is an essential component of mitochondrial Na+/Ca2+ exchange

(2009) R. Palty et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS