Cargando…

P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS.

Detalles Bibliográficos
Autores principales:	Maria Pinto, Valeria, Russo, Roberta, Quintino, Sabrina, Eleni Rosato, Barbara, Marra, Roberta, Del Giudice, Federica, Mogni, Massimo, Maffei, Massimo, Iolascon, Achille, Luca Forni, Gian, Andolfo, Immacolata
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Posters
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10430197/ http://dx.doi.org/10.1097/01.HS9.0000972772.85628.08

Ejemplares similares

Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations
por: Andolfo, Immacolata, et al.
Publicado: (2023)

P1468: PIEZO1 GAIN-OF-FUNCTION VARIANTS ACCOUNT FOR STRESSED ERYTHROPOIESIS BY ALTERING APOPTOSIS, HYPOXIA CELL RESPONSE, AND GLYCOLYSIS
por: Eleni Rosato, Barbara, et al.
Publicado: (2023)

Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge
por: Rosato, Barbara Eleni, et al.
Publicado: (2022)

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias
por: Russo, Roberta, et al.
Publicado: (2020)

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells
por: Rosato, Barbara Eleni, et al.
Publicado: (2022)

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway
por: De Rosa, Gianluca, et al.
Publicado: (2020)

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature
por: Zama, Daniele, et al.
Publicado: (2020)

Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants
por: Martone, Stefania, et al.
Publicado: (2022)

Editorial: Genetics and Genomics of Red Blood Cells
por: Iolascon, Achille, et al.
Publicado: (2022)

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
por: Andolfo, Immacolata, et al.
Publicado: (2019)

Coinheritance of B-Thalassemia and Sickle Cell Anaemia in Southwestern Nigeria
por: Vincent, Osunkalu, et al.
Publicado: (2016)

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report
por: Naoum, Flávio Augusto, et al.
Publicado: (2020)

One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene
por: Rosato, Barbara Eleni, et al.
Publicado: (2023)

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
por: Russo, Roberta, et al.
Publicado: (2019)

Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
por: Russo, Roberta, et al.
Publicado: (2020)

P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
por: Marra, Roberta, et al.
Publicado: (2023)

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients
por: Andolfo, Immacolata, et al.
Publicado: (2021)

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
por: Zaninoni, Anna, et al.
Publicado: (2023)

Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations
por: Russo, Roberta, et al.
Publicado: (2020)

Nezahualcóyotl, Acolmiztli, 1402-1472
por: Alva Ixtlilxóchitl, Fernando de, 1402-1472
Publicado: (1972)

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
por: Andolfo, Immacolata, et al.
Publicado: (2020)

P1537: HEREDITARY ANEMIA CAUSED BY MULTILOCUS INHERITANCE OF PIEZO1, SLC4A1 AND ABCB6 MUTATIONS: A DIAGNOSTIC AND THERAPEUTIC CHALLENGE.
por: Rosato, B. E., et al.
Publicado: (2022)

Nobel prize in physiology or medicine 2021, receptors for temperature and touch: Implications for hematology
por: Andolfo, Immacolata, et al.
Publicado: (2021)

Kinome multigenic panel identified novel druggable EPHB4‐V871I somatic variant in high‐risk neuroblastoma
por: Andolfo, Immacolata, et al.
Publicado: (2020)

Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl
por: Panyasai, Sitthichai, et al.
Publicado: (2017)

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19
por: Andolfo, Immacolata, et al.
Publicado: (2021)

The odds and implications of coinheritance of hemophilia A and B
por: Karch, Corinne, et al.
Publicado: (2020)

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia
por: Fawaz, Naglaa, et al.
Publicado: (2022)

1472 Epidemiology of Meningitis in an HIV-infected Ugandan Cohort
por: Rajasingham, Radha, et al.
Publicado: (2014)

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M
por: Gnanasambandam, Radhakrishnan, et al.
Publicado: (2018)

EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia
por: Laks, Kane M., et al.
Publicado: (2020)

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia
por: Tornador, Cristian, et al.
Publicado: (2019)

Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient
por: Fotzi, Ilaria, et al.
Publicado: (2022)

Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells
por: Cimmino, Flora, et al.
Publicado: (2015)

PReS13-SPK-1472: Science of muscle training in inflammatory disease
por: Van Brussel, M
Publicado: (2013)

Novel Insights and Future Perspective in Iron Metabolism and Anemia
por: Andolfo, Immacolata, et al.
Publicado: (2022)

Hereditary spherocytosis and allied disorders
por: Russo, Roberta, et al.
Publicado: (2019)

PB2317: COINHERITANCE OF COMBINED FACTOR VII AND FACTOR XIII DEFICIENCY IS ASSOCIATED WITH A MILD BLEEDING PHENOTYPE IN PATIENT WITH NON-TRANSFUSION DEPENDENT THALASSEMIA
por: Alshareef, O., et al.
Publicado: (2022)

Pregnancy in Thalassemia and Sickle Cell Disease: The Experience of an Italian Thalassemia Center
por: Sorrentino, Francesco, et al.
Publicado: (2020)

The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy
por: Russo, Roberta, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_fvcoq5iqgc6crkonus5gg126la