Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutieres syndrome

Article Pediatrics

Cerebrospinal Fluid Leucine-Rich Alpha-2 Glycoprotein (LRG) Levels in Children with Acute Bacterial Meningitis

Kushal Talukder et al.

Summary: Elevated CSF LRG concentration is a sensitive and specific biomarker for bacterial meningitis, with potential for differentiation from aseptic meningitis. CSF LRG should be used for the diagnostic role in bacterial meningitis.

INDIAN JOURNAL OF PEDIATRICS (2022)

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Article Immunology

TRIP6 promotes inflammatory damage via the activation of TRAF6 signaling in a murine model of DSS-induced colitis

Yun Yang et al.

Summary: TRIP6, a member of the zyxin family, serves as an adaptor protein to regulate various biological processes. Through interactions with TRAF6, it is shown to play a positive regulatory role in DSS-induced colitis, activating inflammatory TRAF6 signaling.

JOURNAL OF INFLAMMATION-LONDON (2022)

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Review Medicine, General & Internal

The role of environmental exposures and gene-environment interactions in the etiology of systemic lupus erythematous

Jennifer M. P. Woo et al.

Summary: Systemic lupus erythematosus (SLE) is a complex chronic autoimmune disease caused by both genetic and environmental factors. Genetic risk factors account for only one-third of the observed heritability, with the remaining risk attributed to environmental exposures and gene-environment interactions. Occupational exposure to crystalline silica, current smoking, and exogenous estrogens are positively associated with SLE risk. Other factors like lifestyle behaviors, UV radiation, air pollution, solvents, pesticides, vaccines and medications, and infections may also contribute to SLE risk. Alcohol use may be associated with decreased risk. Gene-environment interactions involving IL-10, ESR1, IL-33, ITGAM, and NAT2, along with smoking, UV exposure, and alcohol, have been found to influence SLE risk. Understanding these risk factors and their interactions can help in understanding SLE pathogenesis and developing preventive interventions.

JOURNAL OF INTERNAL MEDICINE (2022)

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Review Cell Biology

Intragenic CpG Islands and Their Impact on Gene Regulation

James A. Cain et al.

Summary: The mammalian genome is generally lacking in CG dinucleotides, except for CpG islands (CGIs) found in protected regions. CGIs serve as gene regulatory hubs, with a quarter of them located within genes. These intragenic CGIs play a crucial role in gene regulation, influencing transcription activity and transcriptome diversity within genes.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)

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Article Rheumatology

The interferon gene signature as a clinically relevant biomarker in autoimmune rheumatic disease

Faye A. H. Cooles et al.

Summary: The interferon gene signature (IGS) is derived from interferon-regulated genes expression, and has been increasingly reported in rheumatic diseases as a potentially clinically relevant biomarker with multiple applications.

LANCET RHEUMATOLOGY (2022)

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Article Biochemistry & Molecular Biology

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amelie Cordovado et al.

Summary: This study identifies the association between SEMA6B variants and intellectual disability (ID) and highlights the crucial role of SEMA6B in neuronal development, particularly in spine formation, maturation, and axon guidance.

HUMAN MOLECULAR GENETICS (2022)

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Article Immunology

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutieres syndrome astrocytes

Anna Maria Sole Giordano et al.

Summary: This study generated human models of Aicardi-Goutieres syndrome (AGS) using genetically modified and patient-derived pluripotent stem cells. The researchers found that spontaneous proinflammatory activation in AGS astrocytes leads to neurotoxicity and inflammation, identifying potential targets for treatment and uncovering the mechanisms of the disease.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

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Article Neurosciences

Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development

Kristyna Kolarikova et al.

Summary: Parkinsonism is a common neurodegenerative disease, and this study focused on the genetic predisposition and variants in a Moravian pedigree. Whole exome sequencing was performed on five family trios, and the presence of genetic variants related to Parkinsonism was evaluated. Although no founder mutations were found, shared variants were identified among different trios. The study suggests the accumulation of multiple risk genetic factors for Parkinsonism in the isolated Moravian population.

FRONTIERS IN NEUROSCIENCE (2022)

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Article Medicine, Research & Experimental

Rasa3 deficiency minimally affects thrombopoiesis but promotes severe thrombocytopenia due to integrin-dependent platelet clearance

Robert H. Lee et al.

Summary: Platelet homeostasis relies on tight regulation of production and clearance, with Rap1 signaling crucial for both processes. Deficiency in Rasa3 causes macrothrombocytopenia in mice due to platelet clearance in the spleen and liver, rather than impaired thrombopoiesis. Inhibiting the Rap1/talin1/alpha(IIb)beta(3) integrin axis can restore platelet count and lifespan in Rasa3-mutant mice, suggesting a potential new mechanism of platelet clearance.

JCI INSIGHT (2022)

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Review Neurosciences

Expression and functions of adenylyl cyclases in the CNS

Karan Devasani et al.

Summary: This review provides an introduction to the classification and structure of ADCYs, and discusses the regulation of mammalian ADCYs. The expression and function of each mammalian ADCY isoform in a region/cell-specific manner are summarized. Furthermore, the effects of GPCR-ADCY signaling on blood-brain barrier integrity are reviewed, and current challenges and future directions are discussed.

FLUIDS AND BARRIERS OF THE CNS (2022)

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Article Endocrinology & Metabolism

Hematologic abnormalities in Aicardi Goutieres Syndrome

Laura A. Adang et al.

Summary: AGS, a rare genetic interferonopathy, is associated with neurologic disability and systemic inflammation. Research has shown that multilineage cytopenias are common among AGS patients, including anemia, thrombocytopenia, and neutropenia. Treatment options may increase the risk of neutropenia.

MOLECULAR GENETICS AND METABOLISM (2022)

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Article Biochemistry & Molecular Biology

A CRISPR screen targeting PI3K effectors identifies RASA3 as a negative regulator of LFA-1-mediated adhesion in T cells

Kristoffer H. Johansen et al.

Summary: The study reveals the critical role of RASA3 in T cell migration, homeostasis, and function. RASA3 suppresses the activation of LFA-1 in T cells and its expression is rapidly reduced upon T cell activation. Loss of RASA3 leads to increased Rap1 activation, defective lymph node entry and egress, and impaired responses to T-dependent immunization in mice.

SCIENCE SIGNALING (2022)

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Article Developmental Biology

Investigation of HoxB3 and Growth Factors Expression in Placentas of Various Gestational Ages

Ilze Kreicberga et al.

Summary: This study evaluated the expression of TGF-β, HGF, FGF-2, FGFR1, and HoxB3 in the human placenta and their correlation with gestational time and pregnancy outcomes. The results showed that HoxB3 plays a significant role in placental development and longitudinal fetal growth, while TGF-β and FGF-2 were not as influential in later stages of placental development. The findings have clinical implications in reproductive medicine.

JOURNAL OF DEVELOPMENTAL BIOLOGY (2022)

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Article Multidisciplinary Sciences

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

Abrey J. Yeo et al.

Summary: ATM-deficient cells exhibit increased sensitivity to nutrient deprivation due to defective cross talk between the endoplasmic reticulum and mitochondrion, resulting in reduced Ca2+ release and transfer. This contributes to mitochondrial dysfunction in ATM-deficient cells, manifested by increased oxygen consumption rates and defects in mitophagy.

ISCIENCE (2021)

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Article Multidisciplinary Sciences

Integrative epigenomics in Sjogren′s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

Maria Teruel et al.

Summary: The primary Sjogren's syndrome is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The complex etiology of SS involves environmental triggers and genetic factors. Through an integrated multi-omics study, researchers identified a vast coordinated hypomethylation and overexpression in IFN-related genes known as the IFN signature in SS, as well as a strong interaction between SS-associated HLA genetic variation and the presence of Anti-Ro/SSA autoantibodies in driving the IFN epigenetic signature. Additionally, a novel epigenetic signature characterized by increased DNA methylation levels in genes enriched in pathways such as collagen metabolism and extracellular matrix organization was reported.

SCIENTIFIC REPORTS (2021)

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Article Biochemistry & Molecular Biology

Rab34 is necessary for early stages of intracellular ciliogenesis

Michael W. Stuck et al.

Summary: Primary cilia are essential for development and health, and dysfunction is associated with a range of human pathologies. The small GTPase Rab34 was identified as a key protein in ciliary formation, particularly important for internal assembly pathway. Additionally, it was found that IMCD3 cells can utilize the internal assembly pathway for ciliogenesis.

CURRENT BIOLOGY (2021)

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Article Cell Biology

DNA Methylation Patterns in CD8+ T Cells Discern Psoriasis From Psoriatic Arthritis and Correlate With Cutaneous Disease Activity

Amandine Charras et al.

Summary: The DNA methylation profiles in CD8(+) T cells differentiate healthy controls from patients with psoriasis and PsA, reflecting the clinical activity of skin disease. This suggests that DNA methylation profiling could be a potential diagnostic and prognostic tool for personalized treatment strategies.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Immunology

The Role of Semaphorins and Their Receptors in Innate Immune Responses and Clinical Diseases of Acute Inflammation

Shreya M. Kanth et al.

Summary: Semaphorins are a group of proteins that play a critical role in neuronal development and have effects on tumors, autoimmune diseases, and immune responses. Recent literature has highlighted their regulatory role in innate immunity and diseases caused by acute injuries, such as in the kidneys, abdomen, heart, and lungs.

FRONTIERS IN IMMUNOLOGY (2021)

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Review Cell Biology

The Role of RhoH in TCR Signalling and Its Involvement in Diseases

Ana Masara Ahmad Mokhtar et al.

Summary: RhoH, an atypical member of the Rho family small GTPases, shares less than 50% sequence similarity with other members and is expressed mainly in hematopoietic cells. Its activation mechanism differs from the standard GDP/GTP cycling and may involve other types of regulation, resulting in altered protein expression. Implicated in B cell malignancies and immune-related diseases, RhoH and its associated proteins are potential therapeutic targets in cancer and immune-related diseases.

CELLS (2021)

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Article Biochemistry & Molecular Biology

Potential neurotoxic activity of diverse molecules released by microglia

Ivan A. Lindhout et al.

Summary: This review discusses various microglia neurotoxins that may be harmful to surrounding cells, including neurons. Further studies are needed to confirm the origin of these molecules in the brain or their direct neurotoxic effects. Investigations into the differential secretion patterns of neurotoxins by microglia in response to diverse stimuli are also required.

NEUROCHEMISTRY INTERNATIONAL (2021)

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Article Clinical Neurology

Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy

Rebecca Herzog et al.

Summary: A female patient in her early twenties presented with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Treatment with zonisamide resulted in significant clinical improvement, particularly in truncal myoclonus, improving the patient's gait and mobility.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

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Article Multidisciplinary Sciences

TRIP6 functions in brain ciliogenesis

Shalmali Shukla et al.

Summary: This study reveals a novel role of TRIP6, a member of the LIM domain protein family, in mammalian ciliogenesis in addition to its known involvement in focal adhesion. The homodimerization of TRIP6 is essential for its function in assembling ciliary proteins, maintaining cilia quantity and length.

NATURE COMMUNICATIONS (2021)

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Article Clinical Neurology

Developmental Outcomes of Aicardi Goutieres Syndrome

Laura Adang et al.

JOURNAL OF CHILD NEUROLOGY (2020)

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Article Genetics & Heredity

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Kohei Hamanaka et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Clinical Neurology

Tissue-resident memory T cells invade the brain parenchyma in multiple sclerosis white matter lesions

Nina L. Fransen et al.

BRAIN (2020)

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Article Biochemistry & Molecular Biology

Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response

Bhavuk Garg et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

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Review Oncology

NAMPT and NAPRT: Two Metabolic Enzymes With Key Roles in Inflammation

Valentina Audrito et al.

FRONTIERS IN ONCOLOGY (2020)

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Review Oncology

Role of platelet biomarkers in inflammatory response

Yufei Chen et al.

BIOMARKER RESEARCH (2020)

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Article Endocrinology & Metabolism

Development of a neurologic severity scale for Aicardi Goutieres Syndrome

Laura A. Adang et al.

MOLECULAR GENETICS AND METABOLISM (2020)

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Review Rheumatology

Clinical value of DNA methylation markers in autoimmune rheumatic diseases

Esteban Ballestar et al.

NATURE REVIEWS RHEUMATOLOGY (2020)

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Article Genetics & Heredity

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti et al.

NATURE GENETICS (2020)

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Article Geriatrics & Gerontology

An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene

Janou A. Y. Roubroeks et al.

NEUROBIOLOGY OF AGING (2020)

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Article Rheumatology

Protein and DNA methylation-based scores as surrogate markers for interferon system activation in patients with primary Sjogren's syndrome

Albin Bjork et al.

RMD OPEN (2020)

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Article Nutrition & Dietetics

Histidine Metabolism and Function

Margaret E. Brosnan et al.

JOURNAL OF NUTRITION (2020)

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Review Biochemistry & Molecular Biology

Niacin in the Central Nervous System: An Update of Biological Aspects and Clinical Applications

Valeria Gasperi et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

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Article Multidisciplinary Sciences

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

Sumeda Nandadasa et al.

NATURE COMMUNICATIONS (2019)

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Article Pharmacology & Pharmacy

Regulatory Role of GRK2 in the TLR Signaling-Mediated iNOS Induction Pathway in Microglial Cells

Sailesh Palikhe et al.

FRONTIERS IN PHARMACOLOGY (2019)

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Review Medicine, General & Internal

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutieres Syndrome Cohort: Report of 12 New Cases and Literature Review

Jessica Garau et al.

JOURNAL OF CLINICAL MEDICINE (2019)

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Article Immunology

Epigenetic programming underpins B cell dysfunction in human SLE

Christopher D. Scharer et al.

NATURE IMMUNOLOGY (2019)

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Article Psychiatry

Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study

Sathish Periyasamy et al.

JAMA PSYCHIATRY (2019)

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Review Immunology

The Role of Epigenetics in Autoimmune/Inflammatory Disease

Anna Elise Andrea Surace et al.

FRONTIERS IN IMMUNOLOGY (2019)

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Review Immunology

Platelets in Skin Autoimmune Diseases

Xiaobo Liu et al.

FRONTIERS IN IMMUNOLOGY (2019)

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Article Immunology

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjogren's Syndrome

Juliana Imgenberg-Kreuz et al.

FRONTIERS IN IMMUNOLOGY (2019)

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Review Biochemistry & Molecular Biology

Enhancer DNA methylation: implications for gene regulation

Allegra Angeloni et al.

DNA METHYLATION (2019)

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Article Oncology

Mechanical strain attenuates cytokine-induced ADAMTS9 expression via transient receptor potential vanilloid type 1

Takashi Ohtsuki et al.

EXPERIMENTAL CELL RESEARCH (2019)

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Article Multidisciplinary Sciences

Transcriptomic, epigenetic, and functional analyses implicate neutrophil diversity in the pathogenesis of systemic lupus erythematosus

Pragnesh Mistry et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

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Review Genetics & Heredity

Changes in Deoxyribonucleic Acid Methylation Contribute to the Pathophysiology of Multiple Sclerosis

Naiara Celarain et al.

FRONTIERS IN GENETICS (2019)

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Review Pathology

Primary Cilia in Brain Development and Diseases

Yong Ha Youn et al.

AMERICAN JOURNAL OF PATHOLOGY (2018)

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Article Rheumatology

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus

Juliana Imgenberg-Kreuz et al.

ANNALS OF THE RHEUMATIC DISEASES (2018)

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Article Clinical Neurology

The compartmentalized inflammatory response in the multiple sclerosis brain is composed of tissue-resident CD8+T lymphocytes and B cells

Joana Machado-Santos et al.

BRAIN (2018)

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Article Neurosciences

Copine-6 Binds to SNAREs and Selectively Suppresses Spontaneous Neurotransmission

Pei Liu et al.

JOURNAL OF NEUROSCIENCE (2018)

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Article Genetics & Heredity

Consistent inverse correlation between DNA methylation of the first intron and gene expression across tissues and species

Dafni Anastasiadi et al.

EPIGENETICS & CHROMATIN (2018)

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Article Genetics & Heredity

Stability of global methylation profiles of whole blood and extracted DNA under different storage durations and conditions

Yingchuan Li et al.

EPIGENOMICS (2018)

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Article Rheumatology

Twin DNA Methylation Profiling Reveals Flare-Dependent Interferon Signature and B Cell Promoter Hypermethylation in Systemic Lupus Erythematosus

Constance J. Ulff-Moller et al.

ARTHRITIS & RHEUMATOLOGY (2018)

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Article Physiology

Increased Reactive Oxygen Species and Cell Cycle Defects Contribute to Anemia in the RASA3 Mutant Mouse Model scat

Emily S. Hartman et al.

FRONTIERS IN PHYSIOLOGY (2018)

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Review Biochemistry & Molecular Biology

The MRE11-RAD50-NBS1 Complex Conducts the Orchestration of Damage Signaling and Outcomes to Stress in DNA Replication and Repair

Aleem Syed et al.

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 87 (2018)

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Article Neurosciences

Regulation of Dendritic Spine Morphology in Hippocampal Neurons by Copine-6

Katja Burk et al.

CEREBRAL CORTEX (2018)

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Article Biochemistry & Molecular Biology

Absence of RNase H2 triggers generation of immunogenic micronuclei removed by autophagy

Kareen Bartsch et al.

HUMAN MOLECULAR GENETICS (2017)

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Article Allergy

DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrinassociated periodic syndromes

Roser Vento-Tormo et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)

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Article Biochemistry & Molecular Biology

Adenylyl cyclase type 9 gene polymorphisms are associated with asthma and allergy in Brazilian children

Helena M. P. Teixeira et al.

MOLECULAR IMMUNOLOGY (2017)

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Review Genetics & Heredity

DNA methylation in systemic lupus erythematosus

Christian M. Hedrich et al.

EPIGENOMICS (2017)

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Article Oncology

Differential methylation at MHC in CD4+ T cells is associated with multiple sclerosis independently of HLA-DRB1

Vicki E. Maltby et al.

CLINICAL EPIGENETICS (2017)

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Article Biochemical Research Methods

ChAMP: updated methylation analysis pipeline for Illumina BeadChips

Yuan Tian et al.

BIOINFORMATICS (2017)

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Article Rheumatology

Genome-wide DNA methylation analysis in multiple tissues in primary Sjogren's syndrome reveals regulatory effects at interferon-induced genes

Juliana Imgenberg-Kreuz et al.

ANNALS OF THE RHEUMATIC DISEASES (2016)

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Article Clinical Neurology

Increased expression of copine VI in patients with refractory epilepsy and a rat model

Binglin Zhu et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)

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Article Multidisciplinary Sciences

The calcium sensor Copine-6 regulates spine structural plasticity and learning and memory

Judith R. Reinhard et al.

NATURE COMMUNICATIONS (2016)

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Article Genetics & Heredity

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Yanick J. Crow et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

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Article Physiology

Pulmonary CD103 expression regulates airway inflammation in asthma

Emilie Bernatchez et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2015)

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Article Cardiac & Cardiovascular Systems

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease

Bing Yu et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2015)

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Article Immunology

Toll-like Receptor 4 Engagement on Dendritic Cells Restrains Phago-Lysosome Fusion and Promotes Cross-Presentation of Antigens

Andres Alloatti et al.

IMMUNITY (2015)

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Article Dermatology

Integrin αE(CD103) Is Involved in Regulatory T-Cell Function in Allergic Contact Hypersensitivity

Andrea Braun et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2015)

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Article Biochemistry & Molecular Biology

limma powers differential expression analyses for RNA-sequencing and microarray studies

Matthew E. Ritchie et al.

NUCLEIC ACIDS RESEARCH (2015)

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Article Cardiac & Cardiovascular Systems

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease

Bing Yu et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2015)

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Article Biology

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutieres syndrome

Yoong Wearn Lim et al.

ELIFE (2015)

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Article Psychiatry

Brain-specific epigenetic markers of schizophrenia

L. F. Wockner et al.

TRANSLATIONAL PSYCHIATRY (2015)

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Article Biochemistry & Molecular Biology

Reduction of hRNase H2 activity in Aicardi - Goutieres syndrome cells leads to replication stress and genome instability

Sara Pizzi et al.

HUMAN MOLECULAR GENETICS (2015)

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Article Medicine, Research & Experimental

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

Claudia Guenther et al.

JOURNAL OF CLINICAL INVESTIGATION (2015)

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Article Multidisciplinary Sciences

Overexpression of RhoH Permits to Bypass the Pre-TCR Checkpoint

Norimasa Tamehiro et al.

PLOS ONE (2015)

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Review Immunology

Aicardi-Goutieres syndrome and the type I interferonopathies

Yanick J. Crow et al.

NATURE REVIEWS IMMUNOLOGY (2015)

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Article Rheumatology

DNA methylation patterns in naive CD4+ T cells identify epigenetic susceptibility loci for malar rash and discoid rash in systemic lupus erythematosus

Paul Renauer et al.

LUPUS SCIENCE & MEDICINE (2015)

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Article Genetics & Heredity

De novo identification of differentially methylated regions in the human genome

Timothy J. Peters et al.

EPIGENETICS & CHROMATIN (2015)

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Article Biochemical Research Methods

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

Martin J. Aryee et al.

BIOINFORMATICS (2014)

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Article Oncology

DNA methylation status is more reliable than gene expression at detecting cancer in prostate biopsy

A. Paziewska et al.

BRITISH JOURNAL OF CANCER (2014)

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Review Immunology

Aicardi-Goutieres syndrome: a model disease for systemic autoimmunity

M. A. Lee-Kirsch et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2014)

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Article Clinical Neurology

Association mapping of the PARK10 region for Parkinson's disease susceptibility genes

Jia Y. Wan et al.

PARKINSONISM & RELATED DISORDERS (2014)

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Review Cell Biology

Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts

Kenneth B. Gagnon et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2013)

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Article Clinical Neurology

G Protein-Coupled Receptor Kinase 2 and Group I Metabotropic Glutamate Receptors Mediate Inflammation-Induced Sensitization to Excitotoxic Neurodegeneration

Vincent Degos et al.

ANNALS OF NEUROLOGY (2013)

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Article Clinical Neurology

Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian I. Rice et al.

LANCET NEUROLOGY (2013)

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Article Biochemistry & Molecular Biology

Novel estrogen target gene ZAS3 is overexpressed in systemic lupus erythematosus

Nicholas A. Young et al.

MOLECULAR IMMUNOLOGY (2013)

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Review Rheumatology

Gene-function studies in systemic lupus erythematosus

Jose C. Crispin et al.

NATURE REVIEWS RHEUMATOLOGY (2013)

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Article Biochemistry & Molecular Biology

INTERFEROME v2.0: an updated database of annotated interferon-regulated genes

Irina Rusinova et al.

NUCLEIC ACIDS RESEARCH (2013)

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Article Genetics & Heredity

Genome-Wide DNA Methylation Analysis of Systemic Lupus Erythematosus Reveals Persistent Hypomethylation of Interferon Genes and Compositional Changes to CD4+T-cell Populations

Devin M. Absher et al.

PLOS GENETICS (2013)

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Article Genetics & Heredity

A whole genome methylation analysis of systemic lupus erythematosus: hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity

S-Y Lin et al.

GENES AND IMMUNITY (2012)

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Article Genetics & Heredity

Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature

Gillian I. Rice et al.

NATURE GENETICS (2012)

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Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

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