(Q40762384)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22208203%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene (English)

1 reference

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congenital dyserythropoietic anemia

19 January 2020

main subject

congenital disorder

0 references

1 reference

congenital dyserythropoietic anemia type II

inferred from title

1 reference

4

1 reference

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19 January 2020

Maddalena Casale

5

1 reference

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Maria Domenica Cappellini

19 January 2020

7

1 reference

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19 January 2020

9

Ben A Oostra

1 reference

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19 January 2020

author name string

Francesca Punzo

1

1 reference

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19 January 2020

Aida M Bertoli-Avella

2

1 reference

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19 January 2020

Saverio Scianguetta

3

1 reference

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19 January 2020

Luisa Ronzoni

6

1 reference

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19 January 2020

Gianluca Forni

8

1 reference

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19 January 2020

Silverio Perrotta

10

1 reference

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19 January 2020

publication date

30 December 2011

1 reference

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Orphanet Journal of Rare Diseases

19 January 2020

published in

1 reference

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19 January 2020

volume

6

1 reference

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19 January 2020

page(s)

89

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-89

19 January 2020

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

The congenital dyserythropoietic anemias

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

Dynamics of the COPII coat with GTP and stable analogues

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

Cloning and functional characterization of mammalian homologues of the COPII component Sec23

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

Frequency of congenital dyserythropoietic anemias in Europe

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: cellular and molecular characterization.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269369

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

19 August 2018

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 anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis

1 reference

12 December 2020

Congenital dyserythropoietic anemias

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22208203%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 January 2020

0 references

1 reference

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19 January 2020

1 reference