Cargando…

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia (FHBL) is mostly caused by premature termination codons in the APOB gene, a condition associated with fatty liver and ste...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vanhoye, Xavier, Janin, Alexandre, Caillaud, Amandine, Rimbert, Antoine, Venet, Fabienne, Gossez, Morgane, Dijk, Wieneke, Marmontel, Oriane, Nony, Séverine, Chatelain, Charlotte, Durand, Christine, Lindenbaum, Pierre, Rieusset, Jennifer, Cariou, Bertrand, Moulin, Philippe, Di Filippo, Mathilde
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030618/ https://www.ncbi.nlm.nih.gov/pubmed/35457099 http://dx.doi.org/10.3390/ijms23084281

Ejemplares similares

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families
por: Ayoub, Carine, et al.
Publicado: (2021)

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia
por: Musialik, Joanna, et al.
Publicado: (2020)

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
por: Conca, Paola, et al.
Publicado: (2012)

Familial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis
por: Lam, Mindy C.W., et al.
Publicado: (2012)

Complex genetic architecture in severe hypobetalipoproteinemia
por: Wang, Linda R., et al.
Publicado: (2018)

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia
por: Dijk, Wieneke, et al.
Publicado: (2022)

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
por: Molk, Neza, et al.
Publicado: (2023)

Sepsis in PD-1 light
por: Monneret, Guillaume, et al.
Publicado: (2016)

Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study
por: Cariou, Bertrand, et al.
Publicado: (2018)

Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
por: Sasaki, Kei, et al.
Publicado: (2022)

Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study
por: Cloos, Anne-Sophie, et al.
Publicado: (2021)

Automated bedside flow cytometer for mHLA-DR expression measurement: a comparison study with reference protocol
por: Zouiouich, Mehdi, et al.
Publicado: (2017)

Dysregulated expression of amino-acid and glucose transporters on circulating plasma cells in septic shock patients: a preliminary study
por: Lepage, Margot, et al.
Publicado: (2022)

Erratum: Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study
por: Frontiers Production Office,
Publicado: (2021)

Delayed persistence of elevated monocytic MDSC associates with deleterious outcomes in septic shock: a retrospective cohort study
por: Waeckel, Louis, et al.
Publicado: (2020)

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2015)

Efficacy of daratumumab in refractory primary Sjögren disease
por: Nocturne, Gaetane, et al.
Publicado: (2023)

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
por: Tada, Hayato, et al.
Publicado: (2020)

Occurrence of marked sepsis-induced immunosuppression in pediatric septic shock: a pilot study
por: Remy, Solenn, et al.
Publicado: (2018)

Anti-SARS-CoV-2 humoral and cellular responses in multiple sclerosis patients treated with anti-CD20 monoclonal antibodies
por: Nicolas, Philippe, et al.
Publicado: (2022)

Immunité cellulaire et humorale anti-SARS-CoV-2 chez les patients SEP traités par anti-CD20
por: Nicolas, Philippe, et al.
Publicado: (2023)

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias
por: Bordat, Claire, et al.
Publicado: (2023)

Massive increase in monocyte HLA-DR expression can be used to discriminate between septic shock and hemophagocytic lymphohistiocytosis-induced shock
por: Remy, Solenn, et al.
Publicado: (2018)

Monitoring NLRP3 Inflammasome Activation and Exhaustion in Clinical Samples: A Refined Flow Cytometry Protocol for ASC Speck Formation Measurement Directly in Whole Blood after Ex Vivo Stimulation
por: Coudereau, Rémy, et al.
Publicado: (2022)

Investigation of human apoB48 metabolism using a new, integrated non‐steady‐state model of apoB48 and apoB100 kinetics
por: Björnson, E., et al.
Publicado: (2019)

Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB
por: Khoo, Bernard, et al.
Publicado: (2007)

Immune response to three doses of mRNA SARS-CoV-2 vaccines in CD19-targeted chimeric antigen receptor T cell immunotherapy recipients
por: Sesques, Pierre, et al.
Publicado: (2022)

Associations of the APOB rs693 and rs17240441 polymorphisms with plasma APOB and lipid levels: a meta-analysis
por: Niu, Caiqin, et al.
Publicado: (2017)

Post-Heparin LPL Activity Measurement Using VLDL As a Substrate: A New Robust Method for Routine Assessment of Plasma Triglyceride Lipolysis Defects
por: Di Filippo, Mathilde, et al.
Publicado: (2014)

Proof of concept study of mass cytometry in septic shock patients reveals novel immune alterations
por: Gossez, Morgane, et al.
Publicado: (2018)

Monocytic HLA-DR expression kinetics in septic shock patients with different pathogens, sites of infection and adverse outcomes
por: Leijte, Guus P., et al.
Publicado: (2020)

Regulation of plasma LDL: the apoB paradigm
por: Sniderman, Allan D., et al.
Publicado: (2009)

The Enzymatic Activity of APOBE3G Multimers
por: Pan, Yangang, et al.
Publicado: (2018)

Clinical significance of APOB inactivation in hepatocellular carcinoma
por: Lee, Gena, et al.
Publicado: (2018)

Disruption of the ERLIN–TM6SF2–APOB complex destabilizes APOB and contributes to non-alcoholic fatty liver disease
por: Li, Bo-Tao, et al.
Publicado: (2020)

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs
por: Roudaut, Meryl, et al.
Publicado: (2021)

Prebiotic Supplementation During Gestation Induces a Tolerogenic Environment and a Protective Microbiota in Offspring Mitigating Food Allergy
por: Selle, Amandine, et al.
Publicado: (2022)

Immune monitoring of interleukin-7 compassionate use in a critically ill COVID-19 patient
por: Monneret, Guillaume, et al.
Publicado: (2020)

Intracellular calcium signaling and phospho-antigen measurements reveal functional proximal TCR activation in lymphocytes from septic shock patients
por: de Roquetaillade, Charles, et al.
Publicado: (2019)

FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
por: Caillaud, Amandine, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ev9i7kavgeufpl3mb2ljhkp6eg