The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

E5 can be expressed in anal cancer and leads to epidermal growth factor receptor-induced invasion in a human papillomavirus 16-transformed anal epithelial cell line

(2018) Erin Isaacson Wechsler et al.   JOURNAL OF GENERAL VIROLOGY

Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis

(2018) Leila Youssefian et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A new mechanism of interferon’s antiviral action: Induction of autophagy, essential for paramyxovirus replication, is inhibited by the interferon stimulated gene, TDRD7

(2018) Gayatri Subramanian et al.   PLoS Pathogens

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses

(2018) Sarah J. de Jong et al.   Frontiers in Microbiology

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

(2017) Ian T. Lamborn et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease

(2017) E. Imahorn et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient

(2017) Y.-Q. Liu et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

(2017) Arnaud P. J. Giese et al.   Nature Communications

Identification ofLCKmutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma

(2016) S.-L. Li et al.   BRITISH JOURNAL OF DERMATOLOGY

Genetic analysis of a novel splice-site mutation inTMC8reveals thein vivoimportance of the transmembrane channel-like domain ofTMC8

(2016) T. Miyauchi et al.   BRITISH JOURNAL OF DERMATOLOGY

CIB1: a small protein with big ambitions

(2016) Tina M. Leisner et al.   FASEB JOURNAL

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

(2016) Monkol Lek et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

SnapShot: Antiviral Restriction Factors

(2015) Silvia F. Kluge et al.   CELL

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human genetic basis of interindividual variability in the course of infection

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Severe infectious diseases of childhood as monogenic inborn errors of immunity

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Recent advances in understanding the pathophysiology of primary T cell immunodeficiencies

(2015) Alain Fischer   TRENDS IN MOLECULAR MEDICINE

TMC1 and TMC2 Localize at the Site of Mechanotransduction in Mammalian Inner Ear Hair Cell Stereocilia

(2015) Kiyoto Kurima et al.   Cell Reports

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

FSuite: exploiting inbreeding in dense SNP chip and exome data

(2014) Steven Gazal et al.   BIOINFORMATICS

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

(2014) P. Stepensky et al.   BLOOD

Characterization of skin lesions induced by skin-tropic α- and β-papillomaviruses in a patient with epidermodysplasia verruciformis

(2014) C. Borgogna et al.   BRITISH JOURNAL OF DERMATOLOGY

Calcium- and integrin-binding protein-1 is down-regulated in the sperm of patients with oligoasthenozoospermia

(2014) Wei Sun et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

(2014) Asbjorg Stray-Pedersen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

α- and β-Papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions

(2014) Manuela M. Landini et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Loss of the HPV-Infection Resistance EVER2 Protein Impairs NF-κB Signaling Pathways in Keratinocytes

(2014) Françoise Vuillier et al.   PLoS One

Differential expression and function of human IL-12Rβ2 polymorphic variants

(2013) Roelof A. de Paus et al.   MOLECULAR IMMUNOLOGY

TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear

(2013) Bifeng Pan et al.   NEURON

EVER2 protein binds TRADD to promote TNF-α-induced apoptosis

(2013) G Gaud et al.   Cell Death & Disease

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

EVER2 Deficiency is Associated with Mild T-cell Abnormalities

(2012) Amandine Crequer et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

(2012) Ozden Sanal et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

(2012) Amandine Crequer et al.   JOURNAL OF CLINICAL INVESTIGATION

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

EVER Proteins, Key Elements of the Natural Anti-Human Papillomavirus Barrier, Are Regulated upon T-Cell Activation

(2012) Maciej Lazarczyk et al.   PLoS One

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

(2012) Amandine Crequer et al.   PLoS One

A conserved cysteine cluster, essential for transcriptional activity, mediates homodimerization of human metal-responsive transcription factor-1 (MTF-1)

(2011) Viola Günther et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Homozygosity for the c.917A → T (p.N306l) Polymorphism in the EVER2/TMC8 Gene of Two Sisters with Epidermodysplasia Verruciformis Lewandowsky-Lutz Originally Described by Wilhelm Lutz

(2011) Andreas W. Arnold et al.   DERMATOLOGY

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

(2011) Yoshiyuki Kawashima et al.   JOURNAL OF CLINICAL INVESTIGATION

Lack of EVER2 Protein in Two Epidermodysplasia Verruciformis Patients with Skin Cancer Presenting Previously Unreported Homozygous Genetic Deletions in the EVER2 Gene

(2011) Manuela M. Landini et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

(2011) A. V. Grant et al.   JOURNAL OF MEDICAL GENETICS

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Genomic analysis of the first laboratory-mouse papillomavirus

(2010) J. Joh et al.   JOURNAL OF GENERAL VIROLOGY

CIB1 is a regulator of pathological cardiac hypertrophy

(2010) Joerg Heineke et al.   NATURE MEDICINE

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

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

Novel Laboratory Mouse Papillomavirus (MusPV) Infection

(2010) A. Ingle et al.   VETERINARY PATHOLOGY

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

CIB1 deficiency results in impaired thrombosis: the potential role of CIB1 in outside-in signaling through integrin αIIbβ3

(2009) M. U. NAIK et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The EVER Proteins as a Natural Barrier against Papillomaviruses: a New Insight into the Pathogenesis of Human Papillomavirus Infections

(2009) M. Lazarczyk et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS