(Q37144868)

18 August 2017

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I (English)

1 reference

congenital dyserythropoietic anemia type I

18 August 2017

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1 reference

13

1 reference

18 August 2017

Gil A McVean

10

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Douglas Higgs

Douglas R Higgs

14

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Simon J McGowan

Simon J McGowan

4

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Opher Gileadi

Opher Gileadi

12

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Nigel A Roberts

Nigel A Roberts

2

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Momin R Ahmed

Momin R Ahmed

5

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Peter Donnelly

11

Peter Donnelly

1 reference

18 August 2017

Christian Babbs

1

1 reference

18 August 2017

Luis Sanchez-Pulido

3

1 reference

18 August 2017

Jill M Brown

6

1 reference

18 August 2017

Mohamed A Sabry

7

1 reference

18 August 2017

WGS500 Consortium

8

1 reference

18 August 2017

David R Bentley

9

1 reference

18 August 2017

Veronica J Buckle

15

1 reference

18 August 2017

28 May 2013

1 reference

18 August 2017

1 reference

18 August 2017

98

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18 August 2017

9

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18 August 2017

1383-1387

1 reference

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

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Global gene expression analysis of human erythroid progenitors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Identification of new homologs of PD-(D/E)XK nucleases by support vector machines trained on data derived from profile-profile alignments

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

A key commitment step in erythropoiesis is synchronized with the cell cycle clock through mutual inhibition between PU.1 and S-phase progression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

High-throughput production of human proteins for crystallization: the SGC experience.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

The congenital dyserythropoietic anemias

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Large-scale mapping of human protein-protein interactions by mass spectrometry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

A gene atlas of the mouse and human protein-encoding transcriptomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

The generic genome browser: a building block for a model organism system database

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Protein secondary structure prediction based on position-specific scoring matrices

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

A novel DNA-binding motif in MarA: the first structure for an AraC family transcriptional activator

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Comparative protein modelling by satisfaction of spatial restraints

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Baculovirus expression vector system: an emerging host for high-throughput eukaryotic protein expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Frequency of congenital dyserythropoietic anemias in Europe

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Stringent regulation of DNA repair during human hematopoietic differentiation: a gene expression and functional analysis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3762094

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

4 December 2018

1 reference

12 December 2020

Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I

1 reference

12 December 2020

Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

1 reference

12 December 2020

Proliferation and maturation of human erythroid progenitors in liquid culture

1 reference

12 December 2020

Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I

1 reference

12 December 2020

10.3324/HAEMATOL.2013.089490

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23716552

1 reference