Cargando…

P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Detalles Bibliográficos
Autores principales:	Marra, Roberta, Nostroso, Antonella, Maria Esposito, Federica, Eleni Rosato, Barbara, D’onofrio, Vanessa, D’alterio, Giuseppe, Capasso, Mario, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	Posters
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10430152/ http://dx.doi.org/10.1097/01.HS9.0000972764.83181.3d

Ejemplares similares

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)

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)

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)

Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias
por: Russo, Roberta, 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)

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)

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)

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

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
por: Russo, Roberta, et al.
Publicado: (2013)

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene
por: Russo, Roberta, et al.
Publicado: (2010)

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)

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

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

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

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

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

P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS.
por: Maria Pinto, Valeria, et al.
Publicado: (2023)

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

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19
por: Cantalupo, Sueva, et al.
Publicado: (2021)

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

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)

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)

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

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

A case of congenital dyserythropoietic anemia type IV
por: de‐ la‐ Iglesia‐ Iñigo, Silvia, et al.
Publicado: (2017)

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

Deferasirox-induced robust and dose-dependent reversal of anemia in a patient with variants in the TRIB2 and ABCB6 genes
por: Stomper, Julia, et al.
Publicado: (2022)

Myelolipoma of the posterior mediastinum in a patient with chronic dyserythropoietic anemia
por: Oliveira, Cristiano Claudino, et al.
Publicado: (2016)

Congenital Dyserythropoietic Anemia Type II: A Case Report
por: Hassan, Muhammad Mujeeb, et al.
Publicado: (2022)

Rare congenital Dyserythropoietic anemia of childhood: A case report
por: Al Hussien, Hamzeh F., et al.
Publicado: (2023)

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
por: D’Alterio, Giuseppe, et al.
Publicado: (2022)

CDinFusion – Submission-Ready, On-Line Integration of Sequence and Contextual Data
por: Hankeln, Wolfgang, et al.
Publicado: (2011)

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)

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

Pulmonary Alveolar Proteinosis in Association with Congenital Dyserythropoietic Anemia: A Case Report
por: Carden, Marcus A., et al.
Publicado: (2012)

Adrenal extramedullary hematopoiesis in the setting of anti-Diego antibody and congenital dyserythropoietic anemia
por: Julson, Janet Rae, et al.
Publicado: (2022)

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
por: De Falco, Alessandro, et al.
Publicado: (2023)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_hgf84j811avij073j3r9en6ghe