Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

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

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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?

(2010) Anne Puel et al.   CURRENT OPINION IN IMMUNOLOGY

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

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

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