De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
出版年份 2022 全文链接
标题
De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease
作者
关键词
-
出版物
JOURNAL OF CLINICAL IMMUNOLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-08-23
DOI
10.1007/s10875-022-01347-w
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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。- Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum
- (2022) Mackenzie D. Postel et al. HUMAN MUTATION
- Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
- (2022) Anna-Lena Neehus et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Genetic Mosaicism as a Cause of Inborn Errors of Immunity
- (2021) Jahnavi Aluri et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)
- (2021) Dirk Roos et al. BLOOD CELLS MOLECULES AND DISEASES
- Impaired respiratory burst contributes to infections in PKCδ-deficient patients
- (2021) Anna-Lena Neehus et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
- (2021) Stuart G. Tangye et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
- (2021) Xianze Luo et al. Frontiers in Immunology
- Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
- (2020) Aziz Bousfiha et al. JOURNAL OF CLINICAL IMMUNOLOGY
- BCG infections at high frequency in both AR-CGD and X-CGD patients following BCG vaccination
- (2020) Takashi Ishikawa et al. CLINICAL INFECTIOUS DISEASES
- Chronic Granulomatous Disease: a Comprehensive Review
- (2020) Hsin-Hui Yu et al. CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
- Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong
- (2020) Janette S. Y. Kwok et al. Frontiers in Immunology
- Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis
- (2019) Shiyu Wang et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Transposable elements in human genetic disease
- (2019) Lindsay M. Payer et al. NATURE REVIEWS GENETICS
- Retrotransposable genetic elements causing neutrophil defects
- (2018) Dirk Roos et al. EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
- Reference values for peripheral blood lymphocyte subsets of healthy children in China
- (2018) Yuan Ding et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases
- (2018) Anna Mensa-Vilaró et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia
- (2018) Avinash Khandagale et al. JOURNAL OF LEUKOCYTE BIOLOGY
- EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease
- (2018) David C. Thomas et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
- (2018) Gudny A. Arnadottir et al. Nature Communications
- Heritable L1 retrotransposition in the mouse primordial germline and early embryo
- (2017) Sandra R. Richardson et al. GENOME RESEARCH
- Mobile DNA in Health and Disease
- (2017) Haig H. Kazazian et al. NEW ENGLAND JOURNAL OF MEDICINE
- Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
- (2016) Hamoud Al-Mousa et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Roles for retrotransposon insertions in human disease
- (2016) Dustin C. Hancks et al. Mobile DNA
- Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in theCYBBGene
- (2014) Martin de Boer et al. HUMAN MUTATION
- Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
- (2014) Alessandra Sottini et al. Jove-Journal of Visualized Experiments
- Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells
- (2012) Masafumi Yamada et al. GENE
- The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
- (2011) Katharina Wimmer et al. PLoS Genetics
- LINE-1 Retrotransposition Activity in Human Genomes
- (2010) Christine R. Beck et al. CELL
- Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay
- (2009) Zhenguo Zhang et al. BMC BIOLOGY
- Chronic Granulomatous Disease
- (2009) Steven M. Holland CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
- L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism
- (2009) H. Kano et al. GENES & DEVELOPMENT
- Alu-repeat-induced deletions within theNCF2gene causing p67-phox-deficient chronic granulomatous disease (CGD)
- (2009) Marcus Gentsch et al. HUMAN MUTATION
- The impact of retrotransposons on human genome evolution
- (2009) Richard Cordaux et al. NATURE REVIEWS GENETICS
- Inflammatory Manifestations in Chronic Granulomatous Disease (CGD)
- (2008) S. D. Rosenzweig JOURNAL OF CLINICAL IMMUNOLOGY
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