Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
出版年份 2017 全文链接
标题
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
作者
关键词
Frameshift mutation, Mouse models, Haplotypes, Transcription factors, Alleles, Sequence databases, Gene expression, Sequence alignment
出版物
PLoS One
Volume 12, Issue 3, Pages e0169687
出版商
Public Library of Science (PLoS)
发表日期
2017-03-17
DOI
10.1371/journal.pone.0169687
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The Neutrophil Btk Signalosome Regulates Integrin Activation during Sterile Inflammation
- (2016) Stephanie Volmering et al. IMMUNITY
- NLRP3 inflammasome plays a redundant role with caspase 8 to promote IL-1β–mediated osteomyelitis
- (2016) Prajwal Gurung et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles
- (2015) Anthony Mathelier et al. NUCLEIC ACIDS RESEARCH
- Inflammasome Priming by Lipopolysaccharide Is Dependent upon ERK Signaling and Proteasome Function
- (2014) M. G. Ghonime et al. JOURNAL OF IMMUNOLOGY
- Transcriptional enhancers: from properties to genome-wide predictions
- (2014) Daria Shlyueva et al. NATURE REVIEWS GENETICS
- Critical role for inflammasome-independent IL-1 production in osteomyelitis
- (2014) J. R. Lukens et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Inflammasome-independent IL-1 mediates autoinflammatory disease in Pstpip2-deficient mice
- (2014) S. L. Cassel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Biology of the RANKL–RANK–OPG System in Immunity, Bone, and Beyond
- (2014) Matthew C. Walsh et al. Frontiers in Immunology
- Tumor Necrosis Factor Inhibition Modulates Thrombospondin-1 Expression in Human Inflammatory Joint Disease through Altered NR4A2 Activity
- (2013) Jason P. McMorrow et al. AMERICAN JOURNAL OF PATHOLOGY
- Flouride Promotes Viability and Differentiation of Osteoblast-Like Saos-2 Cells Via BMP/Smads Signaling Pathway
- (2013) Liangliang Huo et al. BIOLOGICAL TRACE ELEMENT RESEARCH
- Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
- (2013) Christian M Hedrich et al. Pediatric Rheumatology
- Efficacy of anti-IL-1 treatment in Majeed syndrome
- (2012) Troels Herlin et al. ANNALS OF THE RHEUMATIC DISEASES
- Histamine contributes to increased RANKL to osteoprotegerin ratio through altered nuclear receptor 4A activity in human chondrocytes
- (2012) Viviana Marzaioli et al. ARTHRITIS AND RHEUMATISM
- VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
- (2012) Jamie K. Teer et al. BIOINFORMATICS
- PSTPIP2 deficiency in mice causes osteopenia and increased differentiation of multipotent myeloid precursors into osteoclasts
- (2012) V. Chitu et al. BLOOD
- Genome-wide analysis of STAT3 binding in vivo predicts effectors of the anti-inflammatory response in macrophages
- (2012) A. P. Hutchins et al. BLOOD
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors
- (2012) J. Wang et al. GENOME RESEARCH
- Critical Role of Filamin-binding LIM Protein 1 (FBLP-1)/Migfilin in Regulation of Bone Remodeling
- (2012) Guozhi Xiao et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Architecture of the human regulatory network derived from ENCODE data
- (2012) Mark B. Gerstein et al. NATURE
- New developments in osteoimmunology
- (2012) Hiroshi Takayanagi Nature Reviews Rheumatology
- Factorbook.org: a Wiki-based database for transcription factor-binding data generated by the ENCODE consortium
- (2012) J. Wang et al. NUCLEIC ACIDS RESEARCH
- Current Understanding of the Pathogenesis and Management of Chronic Recurrent Multifocal Osteomyelitis
- (2012) Polly J. Ferguson et al. Current Rheumatology Reports
- Inflammation: a role for NR4A orphan nuclear receptors?
- (2011) Jason P. McMorrow et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Thrombospondin-1: Multiple Paths to Inflammation
- (2011) Zenaida Lopez-Dee et al. MEDIATORS OF INFLAMMATION
- Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
- (2011) F. Sievers et al. Molecular Systems Biology
- Migfilin and Filamin as Regulators of Integrin Activation in Endothelial Cells and Neutrophils
- (2011) Mitali Das et al. PLoS One
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice
- (2009) V. Chitu et al. BLOOD
- Identification of NR4A2 as a transcriptional activator of IL-8 expression in human inflammatory arthritis
- (2009) Carol M. Aherne et al. MOLECULAR IMMUNOLOGY
- An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist
- (2009) Ivona Aksentijevich et al. NEW ENGLAND JOURNAL OF MEDICINE
- Migfilin, a Molecular Switch in Regulation of Integrin Activation
- (2008) Sujay Subbayya Ithychanda et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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