Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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Title
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Authors
Keywords
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Journal
Science Immunology
Volume 4, Issue 41, Pages eaax7965
Publisher
American Association for the Advancement of Science (AAAS)
Online
2019-11-30
DOI
10.1126/sciimmunol.aax7965
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Note: Only part of the references are listed.- Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2
- (2019) Sagar Bhattad et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
- (2018) Patrick R. Blackburn et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders
- (2018) Nicoletta Zoppi et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
- (2018) Shen-Ying Zhang et al. CELL
- Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts
- (2018) et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Mucocutaneous IL-17 immunity in mice and humans: host defense vs. excessive inflammation
- (2017) J Li et al. Mucosal Immunology
- TGF-β Family Signaling in Connective Tissue and Skeletal Diseases
- (2017) Elena Gallo MacFarlane et al. Cold Spring Harbor Perspectives in Biology
- Complex heatmaps reveal patterns and correlations in multidimensional genomic data
- (2016) Zuguang Gu et al. BIOINFORMATICS
- Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
- (2016) J. Toubiana et al. BLOOD
- Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
- (2016) Josephina A.N. Meester et al. GENETICS IN MEDICINE
- Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+T cells into distinct effector subsets
- (2016) Cindy S. Ma et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The mutation significance cutoff: gene-level thresholds for variant predictions
- (2016) Yuval Itan et al. NATURE METHODS
- Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
- (2016) Nicola Chiarelli et al. PLoS One
- Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
- (2016) Romain Lévy et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cell Signaling and Stress Responses
- (2016) Gökhan S. Hotamisligil et al. Cold Spring Harbor Perspectives in Biology
- Non-Smad Signaling Pathways of the TGF-β Family
- (2016) Ying E. Zhang Cold Spring Harbor Perspectives in Biology
- Nuclear Envelope Protein SUN2 Promotes Cyclophilin-A-Dependent Steps of HIV Replication
- (2016) Xavier Lahaye et al. Cell Reports
- Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
- (2015) Christopher T. Gordon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
- (2015) Delfien Syx et al. HUMAN MUTATION
- Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
- (2015) Cindy S. Ma et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
- (2015) Yun Ling et al. JOURNAL OF EXPERIMENTAL MEDICINE
- The human gene damage index as a gene-level approach to prioritizing exome variants
- (2015) Yuval Itan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
- (2015) S. Okada et al. SCIENCE
- HTSeq--a Python framework to work with high-throughput sequencing data
- (2014) S. Anders et al. BIOINFORMATICS
- Defective antiviral CD8 T-cell response and viral clearance in the absence of c-Jun N-terminal kinases
- (2014) Yong-Qin Wang et al. IMMUNOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4
- (2014) Laia Alsina et al. NATURE IMMUNOLOGY
- Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
- (2013) Christopher T. Gordon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis
- (2013) Bertrand Boisson et al. IMMUNITY
- Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
- (2013) Marco Ritelli et al. Orphanet Journal of Rare Diseases
- The human gene connectome as a map of short cuts for morbid allele discovery
- (2013) Y. Itan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene
- (2012) Roberto Mendoza-Londono et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- STAR: ultrafast universal RNA-seq aligner
- (2012) Alexander Dobin et al. BIOINFORMATICS
- Th17 Cells in Immunity to Candida albicans
- (2012) Nydiaris Hernández-Santos et al. Cell Host & Microbe
- Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
- (2012) Anne Puel et al. Current Opinion in Allergy and Clinical Immunology
- Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
- (2012) Mark E Lindsay et al. NATURE GENETICS
- Differential Requirement for c-Jun N-terminal Kinase 1 in Lung Inflammation and Host Defense
- (2012) Jos Van der Velden et al. PLoS One
- SnIPRE: Selection Inference Using a Poisson Random Effects Model
- (2012) Kirsten E. Eilertson et al. PLoS Computational Biology
- Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
- (2011) Pekka Nieminen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Transcription Factor Smad-Independent T Helper 17 Cell Induction by Transforming-Growth Factor-β Is Mediated by Suppression of Eomesodermin
- (2011) Kenji Ichiyama et al. IMMUNITY
- Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
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- Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
- (2011) Ingrid M B H van de Laar et al. JOURNAL OF MEDICAL GENETICS
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
- (2011) Ingrid M B H van de Laar et al. NATURE GENETICS
- STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
- (2011) Frank L. van de Veerdonk et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
- (2011) A. Puel et al. SCIENCE
- Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?
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- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
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- Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines
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- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Regulation of the immune response by stress-activated protein kinases
- (2009) Mercedes Rincón et al. IMMUNOLOGICAL REVIEWS
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes
- (2009) Alexandra F Freeman et al. PEDIATRIC RESEARCH
- Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3
- (2008) Cindy S. Ma et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells
- (2008) Ludovic de Beaucoudrey et al. JOURNAL OF EXPERIMENTAL MEDICINE
- IL-21 and TGF-β are required for differentiation of human TH17 cells
- (2008) Li Yang et al. NATURE
- Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
- (2008) Joshua D. Milner et al. NATURE
- A critical function for transforming growth factor-β, interleukin 23 and proinflammatory cytokines in driving and modulating human TH-17 responses
- (2008) Elisabetta Volpe et al. NATURE IMMUNOLOGY
- The differentiation of human TH-17 cells requires transforming growth factor-β and induction of the nuclear receptor RORγt
- (2008) Nicolas Manel et al. NATURE IMMUNOLOGY
- Pyogenic Bacterial Infections in Humans with MyD88 Deficiency
- (2008) H. von Bernuth et al. SCIENCE
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