Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach (Q34306088)

1 August 2017

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach (English)

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1 August 2017

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Maria Rosaria Esposito

object named as

Maria Rosaria Esposito

series ordinal

2

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Roberta Russo

object named as

Roberta Russo

series ordinal

3

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author name string

Achille Iolascon

series ordinal

1

1 reference

1 August 2017

12 October 2012

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1 August 2017

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1 August 2017

97

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1 August 2017

12

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1 August 2017

1786-1794

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SEC23B is required for the maintenance of murine professional secretory tissues

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Exome sequencing as a tool for Mendelian disease gene discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Mendelian disorders of membrane trafficking

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Sequential establishment of marks on soluble histones H3 and H4.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

The program for processing newly synthesized histones H3.1 and H4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Epidemiology of rare anaemias in Europe

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

The congenital dyserythropoietic anemias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Human phenotypes associated with GATA-1 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Coordination of COPII vesicle trafficking by Sec23.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Histone chaperones: an escort network regulating histone traffic

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Bi-directional protein transport between the ER and Golgi

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Genes transcriptionally modulated by interferon alpha2a correlate with the cytokine activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type III.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Ultrastructural abnormalities of erythroblasts and erythrocytes in 6 cases of congenital dyserythropoietic anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anaemia (type II) presenting with haemosiderosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

A Case of Congenital Dyserythropoietic Anemia Type II Associated with Hemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Frequency of congenital dyserythropoietic anemias in Europe

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Replication Stress Interferes with Histone Recycling and Predeposition Marking of New Histones

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3590084

Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)

9 December 2018

1 reference

12 December 2020

Congenital dyserythropoietic anemias

1 reference

12 December 2020

Growth differentiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type II

1 reference

12 December 2020

A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level

1 reference

12 December 2020

Effects of four species of interferon-alpha on cultured erythroid progenitors from congenital dyserythropoietic anaemia type I

1 reference

12 December 2020

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

1 reference

12 December 2020

Paravertebral extramedullary haemopoiesis occurring in a case of congenital dyserythropoietic anaemia type II

1 reference

12 December 2020

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

1 reference

12 December 2020

Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy

1 reference

12 December 2020

Interferon alpha is an effective therapy for congenital dyserythropoietic anaemia type I

1 reference

12 December 2020

Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults

1 reference

12 December 2020

Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

1 reference

12 December 2020

Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified-Serum Test: a Type of Congenital Dyserythropoietic Anaemia

1 reference

12 December 2020

Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow

1 reference

12 December 2020

Cell membrane anomaly impeding cell division

1 reference

12 December 2020

Hempas: congenital dyserythropoietic anaemia (type II)

1 reference

12 December 2020

Red cell membrane protein anomalies in congenital dyserythropoietic anaemia, type II (HEMP AS)

1 reference

12 December 2020

Decreased glycosylation of band 3 and band 4.5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II

1 reference

12 December 2020

Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II)

1 reference

12 December 2020

Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2

1 reference

12 December 2020

Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II

1 reference

12 December 2020

Paravertebral extramedullary hematopoiesis (as a posterior mediastinal tumor) associated with congenital dyserythropoietic anemia

1 reference

12 December 2020

Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS)

1 reference

12 December 2020

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25

1 reference

12 December 2020

[Paravertebral extramedullary hematopoiesis in congenital dyserythropoietic anemia type II (CDA II)]

1 reference

12 December 2020

10.3324/HAEMATOL.2012.072207

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

PubMed ID

23065504