Cargando…

Variation and impact of polygenic hematologic traits in monogenic sickle cell disease

Several of the complications observed in sickle cell disease (SCD) are influenced by variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil count. Previous large-scale genome-wide association studies carried out in largely healthy individuals have identified thousa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pincez, Thomas, Lo, Ken Sin, d’Orengiani, Anne-Laure Pham Hung d’Alexandry, Garrett, Melanie E., Brugnara, Carlo, Ashley-Koch, Allison E., Telen, Marilyn J., Galactéros, Frédéric, Joly, Philippe, Bartolucci, Pablo, Lettre, Guillaume
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Fondazione Ferrata Storti 2022
Materias:	Article - Red Cell Biology & its Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9973495/ https://www.ncbi.nlm.nih.gov/pubmed/36226494 http://dx.doi.org/10.3324/haematol.2022.281180

Ejemplares similares

Psychometric characteristics of the Revised Illness Perception Questionnaire (IPQ-R) in adults with sickle cell disease
por: Oudin Doglioni, Damien, et al.
Publicado: (2021)

Effects of corticosteroids in patients with sickle cell disease and acute complications: a systematic review and meta-analysis
por: Lopinto, Julien, et al.
Publicado: (2022)

Contribution of fetal microchimeric cells to maternal wound healing in sickle cell ulcers
por: Alkobtawi, Mansour, et al.
Publicado: (2022)

Increased retention of functional mitochondria in mature sickle red blood cells is associated with increased sickling tendency, hemolysis and oxidative stress
por: Esperti, Sofia, et al.
Publicado: (2023)

Characterisation of different forms of the accessory gp3 canine coronavirus type I protein identified in cats
por: Pham-Hung d’Alexandry d’Orengiani, Anne-Laure, et al.
Publicado: (2015)

Assessment of functional shunting in patients with sickle cell disease
por: Afzali-Hashemi, Liza, et al.
Publicado: (2022)

Ionophore-mediated swelling of erythrocytes as a therapeutic mechanism in sickle cell disease
por: Geisness1, Athena C., et al.
Publicado: (2021)

Inhibition of DAGLβ as a therapeutic target for pain in sickle cell disease
por: Khasabova, Iryna A., et al.
Publicado: (2022)

Severity and burden of sickle cell disease in France: a nationwide real-world study
por: Brousse, Valentine, et al.
Publicado: (2023)

Early splenectomy in a large cohort of children with sickle cell anemia: risks and consequences
por: Mechraoui, Aimen, et al.
Publicado: (2023)

Drepadom - Home Care Services and Hospitalizations for Sickle Cell Disease Patients during the Covid-19 Pandemic
por: De Luna, Gonzalo, et al.
Publicado: (2020)

Factors associated with left ventricular hypertrophy in children with sickle cell disease: results from the DISPLACE study
por: Galadanci, Najibah A., et al.
Publicado: (2022)

Acid phosphatase 2 (ACP2) is required for membrane fusion during influenza virus entry
por: Lee, Jihye, et al.
Publicado: (2017)

Metabolic signatures of cardiorenal dysfunction in plasma from sickle cell patients as a function of therapeutic transfusion and hydroxyurea treatment
por: D’Alessandro, Angelo, et al.
Publicado: (2023)

Thromboprophylaxis Reduced Venous Thromboembolism in Sickle Cell Patients with Central Venous Access Devices: A Retrospective Cohort Study
por: Forté, Stéphanie, et al.
Publicado: (2022)

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
por: Karaghiannis, Valéna, et al.
Publicado: (2023)

Drepadom - Establishment of Home Care Services and Hospitalizations for Sickle Cell Disease Patients As Standard Care Since the Covid-19 Pandemic
por: Pelinski, Yanís, et al.
Publicado: (2021)

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy
por: Garrett, Melanie E., et al.
Publicado: (2022)

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis
por: Delamare, Marine, et al.
Publicado: (2023)

Evidence of protective effects of recombinant ADAMTS13 in a humanized model of sickle cell disease
por: Rossato, Paolo, et al.
Publicado: (2022)

Correction of RNA splicing defect in β(654)-thalassemia mice using CRISPR/Cas9 gene-editing technology
por: Lu, Dan, et al.
Publicado: (2021)

Stage-specific dual function: EZH2 regulates human erythropoiesis by eliciting histone and non-histone methylation
por: Li, Mengjia, et al.
Publicado: (2023)

Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution
por: Liu, Yang, et al.
Publicado: (2023)

CD169-CD43 interaction is involved in erythroblastic island formation and erythroid differentiation
por: Bai, Jian, et al.
Publicado: (2023)

Reticulocyte hemoglobin equivalent (Ret He) and assessment of iron-deficient states
por: BRUGNARA, C, et al.
Publicado: (2006)

Full-scale model of the ALICE ITS Detector
Publicado: (2004)

ALICE ITS
Publicado: (2003)

ALICE Pixel Ladder (5 chips bump bonded to 1 sensor) mounted on prototype bus
Publicado: (2002)

ALICE pixel prototype bus with 10 readout chips
Publicado: (2002)

ALICE pixel readout chip with 8192 readout channels
Publicado: (2001)

ALICE ITS Testbeam setup with 4 pixel reference planes
Publicado: (2002)

ALICE ITS
Publicado: (2003)

ALICE Carbon fibre sector support
Publicado: (2001)

ALICE ladder mounted on prototype bus
Publicado: (2002)

ALICE ladder mounted and wire bonded on prototype bus
Publicado: (2002)

ALICE Testbeam 2002-Reference plane made of 2 bump bonded single chip assemblies
Publicado: (2002)

SEM picture of bump bonding pads on ALICE readout chip
Publicado: (2002)

Probing of ALICE single chip assembly
Publicado: (2001)

Multiple trigger scintillators were installed: big ones covering the total surface of the sensor and several smaller ones. The former give a trigger for each beam particle. The latter are used to select a part of the sensor surface for efficiency measurements.
por: Nooren, G.
Publicado: (2004)

In ALICE particles will hit the sensors at oblique angles. This is partly simulated here by rotating the modules.
por: Nooren, G.
Publicado: (2004)

Cannot write session to /tmp/vufind_sessions/sess_tb88d0ouc2u09ucg3th53ep5qh