Cargando…

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

BACKGROUND: SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) has recently been shown to have a critical role in granulopoiesis in humans, mice, and zebrafish. Our patient presented with delayed cord separation, failure to thrive, and sepsis....

Descripción completa

Detalles Bibliográficos
Autores principales:	Schim van der Loeff, Ina, Sprenkeler, Evelien G.G., Tool, Anton T.J., Abinun, Mario, Grainger, Angela, Engelhardt, Karin R., van Houdt, Michel, Janssen, Hans, Kuijpers, Taco W., Hambleton, Sophie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Mosby 2021
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168953/ https://www.ncbi.nlm.nih.gov/pubmed/33279574 http://dx.doi.org/10.1016/j.jaci.2020.11.025

Ejemplares similares

Lack of eosinophil extracellular trap formation due to failure of plasma membrane breakdown in the absence of elastase
por: Sprenkeler, Evelien G. G., et al.
Publicado: (2023)

S100A8/A9 Is a Marker for the Release of Neutrophil Extracellular Traps and Induces Neutrophil Activation
por: Sprenkeler, Evelien G. G., et al.
Publicado: (2022)

Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting—Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases
por: Sprenkeler, Evelien G. G., et al.
Publicado: (2021)

Defective Neutrophil Transendothelial Migration and Lateral Motility in ARPC1B Deficiency Under Flow Conditions
por: Kempers, Lanette, et al.
Publicado: (2021)

SMARCD1 regulates senescence-associated lipid accumulation in hepatocytes
por: Inoue, Chisato, et al.
Publicado: (2017)

LncRNA SMARCD3-OT1 Promotes Muscle Hypertrophy and Fast-Twitch Fiber Transformation via Enhancing SMARCD3X4 Expression
por: Zhang, Jing, et al.
Publicado: (2022)

Smarcd3 is an epigenetic modulator of the metabolic landscape in pancreatic ductal adenocarcinoma
por: Ferguson, L. Paige, et al.
Publicado: (2023)

SMARCD3 is a potential prognostic marker and therapeutic target in CAFs
por: Jiang, Ming, et al.
Publicado: (2020)

Expression of SMARCD1 interacts with age in association with asthma control on inhaled corticosteroid therapy
por: McGeachie, Michael J., et al.
Publicado: (2020)

MBRS-63. THE ROLE OF THE SWI/SNF COMPLEX SUBUNIT SMARCD3 IN MEDULLOBLASTOMA
por: Poore, Brad, et al.
Publicado: (2020)

Sodium stibogluconate and CD47-SIRPα blockade overcome resistance of anti-CD20–opsonized B cells to neutrophil killing
por: van Rees, Dieke J., et al.
Publicado: (2022)

SMARCD1 negatively regulates myeloid differentiation of leukemic cells via epigenetic mechanisms
por: Saha, Subha, et al.
Publicado: (2022)

Epidemiology, Natural History and Treatment of HIV-2 Infections
por: van der Loeff, Maarten F. Schim
Publicado: (2008)

Smarcd1 Inhibits the Malignant Phenotypes of Human Glioblastoma Cells via Crosstalk with Notch1
por: Zhu, Yihao, et al.
Publicado: (2020)

Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations
por: Ibrahim, Abukhiran, et al.
Publicado: (2022)

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
por: van de Vosse, Esther, et al.
Publicado: (2010)

Neutrophils as Suppressors of T Cell Proliferation: Does Age Matter?
por: Aarts, Cathelijn E. M., et al.
Publicado: (2019)

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
por: Daniels, Eileen G., et al.
Publicado: (2019)

Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women
por: Zhou, Qiu-Hong, et al.
Publicado: (2014)

SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance
por: Cruickshank, V. Adam, et al.
Publicado: (2015)

A neurodevelopmental epigenetic programme mediated by SMARCD3–DAB1–Reelin signalling is hijacked to promote medulloblastoma metastasis
por: Zou, Han, et al.
Publicado: (2023)

Stopping breastfeeding to prevent vertical transmission of HTLV-1 in resource-poor settings: beneficial or harmful?
por: van Tienen, Carla, et al.
Publicado: (2012)

Retained Splenic Function in an Indian Population with Homozygous Sickle Cell Disease May Have Important Clinical Significance
por: Serjeant, Beryl, et al.
Publicado: (2021)

Red blood cell transfusion results in adhesion of neutrophils in human endotoxemia and in critically ill patients with sepsis
por: van Hezel, Maike E., et al.
Publicado: (2019)

Withdrawal: MicroRNA-7 compromises p53-dependent apoptosis by controlling the expression of the chromatin remodeling factor SMARCD1
por: Hong, Chun-Fu, et al.
Publicado: (2021)

microRNA‐99a‐5p induces cellular senescence in gemcitabine‐resistant bladder cancer by targeting SMARCD1
por: Tamai, Motoki, et al.
Publicado: (2022)

MEDB-88. BAF60C/SMARCD3-mediated novel neurodevelopmental epigenomic program promotes metastatic dissemination in medulloblastoma
por: Zou, Han, et al.
Publicado: (2022)

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis
por: Gothe, Florian, et al.
Publicado: (2020)

Intensive Glucose Control Reduces the Risk Effect of TRIB3, SMARCD3, and ATF6 Genetic Variation on Diabetic Vascular Complications
por: He, Fazhong, et al.
Publicado: (2018)

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
por: Kuijpers, Taco W., et al.
Publicado: (2022)

Functional screening of mammalian mechanosensitive genes using Drosophila RNAi library– Smarcd3/Bap60 is a mechanosensitive pro-inflammatory gene
por: Kumar, Sandeep, et al.
Publicado: (2016)

Malaria incidence in Limpopo Province, South Africa, 1998–2007
por: Gerritsen, Annette AM, et al.
Publicado: (2008)

Urban Movement and Alcohol Intake Strongly Predict Defaulting from Tuberculosis Treatment: An Operational Study
por: Sendagire, Ibrahim, et al.
Publicado: (2012)

Long Delays and Missed Opportunities in Diagnosing Smear-Positive Pulmonary Tuberculosis in Kampala, Uganda: A Cross-Sectional Study
por: Sendagire, Ibrahim, et al.
Publicado: (2010)

Potential effectiveness of prophylactic HPV immunization for men who have sex with men in the Netherlands: A multi-model approach
por: Bogaards, Johannes A., et al.
Publicado: (2019)

Sexually Transmitted Infection Positivity Rate and Treatment Uptake Among Female and Male Sexual Assault Victims Attending The Amsterdam STI Clinic Between 2005 and 2016
por: van Rooijen, Martijn S., et al.
Publicado: (2018)

Improving provider-initiated testing for HIV and other STI in the primary care setting in Amsterdam, the Netherlands: Results from a multifaceted, educational intervention programme
por: Bogers, Saskia, et al.
Publicado: (2023)

Understanding the effect of an educational intervention to optimize HIV testing strategies in primary care in Amsterdam – results of a mixed-methods study
por: Bogers, Saskia, et al.
Publicado: (2023)

Estimating incidence rates of grouped HPV types: A systematic review and comparison of the impact of different epidemiological assumptions
por: Jongen, Vita W., et al.
Publicado: (2019)

Educational paper: Defects in number and function of neutrophilic granulocytes causing primary immunodeficiency
por: van den Berg, J. Merlijn, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_cg44uvc750s7oomciolbnofqok