Cargando…

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This...

Descripción completa

Detalles Bibliográficos
Autores principales:	Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298408/ https://www.ncbi.nlm.nih.gov/pubmed/37373084 http://dx.doi.org/10.3390/ijms24129935

Ejemplares similares

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
por: Hernández, Gonzalo, et al.
Publicado: (2022)

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

P1431: MOLECULAR CHARACTERIZATION AND LENTIVIRAL CORRECTION OF IN VITRO ERYTHROPOIEIS IN PATIENTS WITH A NOVEL RECESSIVE CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III (CDA TYPE IIIB).
por: Hernández, G., et al.
Publicado: (2022)

SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II
por: King, Richard, et al.
Publicado: (2021)

P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH
por: Romero-Cortadellas, Lídia, et al.
Publicado: (2023)

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
por: Punzo, Francesca, et al.
Publicado: (2011)

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
por: Romero-Cortadellas, Lídia, 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)

Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene
por: Demircioğlu, Fatih, et al.
Publicado: (2015)

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
por: Hernández, Gonzalo, et al.
Publicado: (2021)

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

P1496: TRANSFERRIN NON-CODING VARIANTS CAUSE MRNA DESTABILISATION IN CONGENITAL HYPOTRANSFERRINEMIA
por: Ferrer, Xenia, et al.
Publicado: (2023)

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

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population
por: Saptarshi, Arati Nandan, et al.
Publicado: (2023)

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
por: Roy, Noémi B. A., et al.
Publicado: (2019)

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)

Diagnosis and Management of Congenital Dyserythropoietic Anaemia Type II in a Secundigravida
por: Christoforidou, Anna, et al.
Publicado: (2017)

A Case of Angioid Streaks in Congenital Dyserythropoietic Anaemia Type II
por: Doolan, Emer, et al.
Publicado: (2022)

Circulating megakaryocyte in primary myelofibrosis: an uncommon finding in a myelofibrosis blood smear
por: Cantó, Pedro Asensi, et al.
Publicado: (2021)

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases
por: Celma Nos, Ferran, et al.
Publicado: (2021)

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

The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders
por: Barbarani, Gloria, et al.
Publicado: (2019)

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

Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II
por: Invernizzi, Rosangela
Publicado: (2022)

Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report
por: Jaramillo, Catalina, et al.
Publicado: (2019)

P1554: INCREASED PREVALENCE OF THROMBOEMBOLIC EVENTS IN PATIENTS WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
por: Asleh, M., et al.
Publicado: (2022)

Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia
por: Kobayashi, Akie, et al.
Publicado: (2022)

Haemochromatosis patients' research priorities: Towards an improved quality of life
por: Romero‐Cortadellas, Lídia, et al.
Publicado: (2023)

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities
por: Scott, Caroline, et al.
Publicado: (2020)

An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
por: Shelton, G. Diane, et al.
Publicado: (2022)

Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells
por: May, Alisha, et al.
Publicado: (2023)

Let’s talk about Secs: Sec61, Sec62 and Sec63 in signal transduction, oncology and personalized medicine
por: Linxweiler, Maximilian, et al.
Publicado: (2017)

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases
por: Cadenas, Beatriz, et al.
Publicado: (2019)

Stepwise gating of the Sec61 protein-conducting channel by Sec63 and Sec62
por: Itskanov, Samuel, et al.
Publicado: (2021)

KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity
por: Ravindranath, Yaddanapudi, et al.
Publicado: (2018)

Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient
por: Varricchio, Lilian, et al.
Publicado: (2019)

Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes
por: Ru, Yong-Xin, et al.
Publicado: (2022)

Lineage switch from B lymphoblastic leukemia with KMT2A-rearranged to mixed-phenotype acute leukemia under daratumumab
por: Marco-Ayala, Javier, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_jak56tm8vcg5oq5gf5l4ieek15