相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Tiziana Lorenzini et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Daehwan Kim et al.
NATURE BIOTECHNOLOGY (2019)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1
Claudia Schroeder et al.
FRONTIERS IN IMMUNOLOGY (2019)
Neutrophil trafficking on-a-chip: an in vitro, organotypic model for investigating neutrophil priming, extravasation, and migration with spatiotemporal control
Patrick H. McMinn et al.
LAB ON A CHIP (2019)
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Paul Tuijnenburg et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations
Romina Dieli-Crimi et al.
CLINICAL IMMUNOLOGY (2018)
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
Meri Kaustio et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)
Pyoderma Gangrenosum: An Update on Pathophysiology, Diagnosis and Treatment
Afsaneh Alavi et al.
AMERICAN JOURNAL OF CLINICAL DERMATOLOGY (2017)
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans
Cyrill Schipp et al.
HAEMATOLOGICA (2016)
The Expanding Spectrum of NFkB1 Deficiency
Vanessa L. Bryant et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2016)
NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation
Heidrun Boztug et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2016)
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans
Cyrill Schipp et al.
HAEMATOLOGICA (2016)
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
Manfred Fliegauf et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
The genetics of pyoderma gangrenosum and implications for treatment: a systematic review
E. M. DeFilippis et al.
BRITISH JOURNAL OF DERMATOLOGY (2015)
Pathophysiology of pyoderma gangrenosum (PG): An updated review
Sara F. Braswell et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2015)
NFκB1 is a suppressor of neutrophil-driven hepatocellular carcinoma (vol 6, 6818, 2015)
C. L. Wilson et al.
NATURE COMMUNICATIONS (2015)
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Yang Liao et al.
BIOINFORMATICS (2014)
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian et al.
NUCLEIC ACIDS RESEARCH (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
Nuclear factor-κβ1 (p50) limits the inflammatory and fibrogenic responses to chronic injury
F Oakley et al.
AMERICAN JOURNAL OF PATHOLOGY (2005)
Stability of the rel homology domain is critical for generation of NF-κB p50 subunit
L Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Cotranslational dimerization of the Rel homology domain of NF-kappa B1 generates p50-p105 heterodimers and is required for effective p50 production
L Lin et al.
EMBO JOURNAL (2000)