Identification of a High-Frequency SomaticNLRC4Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection

Unrevealed mosaicism in the next-generation sequencing era

(2015) Marzena Gajecka   MOLECULAR GENETICS AND GENOMICS

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Identification of Genes for Childhood Heritable Diseases

(2014) Kym M. Boycott et al.   Annual Review of Medicine

Recent advances in the study of somatic mosaicism and diseases other than cancer

(2014) Robert P Erickson   CURRENT OPINION IN GENETICS & DEVELOPMENT

An inherited mutation inNLRC4causes autoinflammation in human and mice

(2014) Akiko Kitamura et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

Ten years of next-generation sequencing technology

(2014) Erwin L. van Dijk et al.   TRENDS IN GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Robust and Highly-Efficient Differentiation of Functional Monocytic Cells from Human Pluripotent Stem Cells under Serum- and Feeder Cell-Free Conditions

(2013) Masakatsu D. Yanagimachi et al.   PLoS One

Crystal Structure of NLRC4 Reveals Its Autoinhibition Mechanism

(2013) Z. Hu et al.   SCIENCE

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

(2012) T. Tanaka et al.   BLOOD

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

(2012) K. Izawa et al.   DNA RESEARCH

TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells

(2012) M Haruta et al.   GENE THERAPY

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Somatic coding mutations in human induced pluripotent stem cells

(2011) Athurva Gore et al.   NATURE

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Novel Serum-Free Monolayer Culture for Orderly Hematopoietic Differentiation of Human Pluripotent Cells via Mesodermal Progenitors

(2011) Akira Niwa et al.   PLoS One

Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility

(2011) Atsushi Hijikata et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1  secretion

(2010) S. Tassi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Direct Reprogramming of Terminally Differentiated Mature B Lymphocytes to Pluripotency

(2008) Jacob Hanna et al.   CELL

Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization

(2008) Veit Hornung et al.   NATURE IMMUNOLOGY

Innate Immune Activation Through Nalp3 Inflammasome Sensing of Asbestos and Silica

(2008) C. Dostert et al.   SCIENCE