(Q33393550)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

2

1 reference

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19 January 2020

Patrizia Noris

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Alessandro Pecci

7

1 reference

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19 January 2020

Caterina Marconi

10

1 reference

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19 January 2020

Daniela De Rocco

13

1 reference

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19 January 2020

Serena Barozzi

15

1 reference

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19 January 2020

Valeria Bozzi

17

1 reference

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19 January 2020

Marco Seri

22

1 reference

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19 January 2020

1

Tommaso Pippucci

1 reference

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19 January 2020

author name string

Silverio Perrotta

3

1 reference

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19 January 2020

Núria Pujol-Moix

4

1 reference

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19 January 2020

Giovanni Castegnaro

6

1 reference

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19 January 2020

Chiara Gnan

8

1 reference

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19 January 2020

Francesca Punzo

9

1 reference

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19 January 2020

Samuele Gherardi

11

1 reference

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19 January 2020

Giuseppe Loffredo

12

1 reference

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19 January 2020

Saverio Scianguetta

14

1 reference

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19 January 2020

Pamela Magini

16

1 reference

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19 January 2020

Luca Dezzani

18

1 reference

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19 January 2020

Mariateresa Di Stazio

19

1 reference

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19 January 2020

Marcella Ferraro

20

1 reference

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19 January 2020

Giovanni Perini

21

1 reference

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19 January 2020

Carlo L Balduini

23

1 reference

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19 January 2020

language of work or name

English

0 references

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

88

1 reference

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19 January 2020

issue

1

1 reference

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19 January 2020

page(s)

115-120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

A primate-specific POTE-actin fusion protein plays a role in apoptosis

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

The complete genome of an individual by massively parallel DNA sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

A model for obesity and gigantism due to disruption of the Ankrd26 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Inherited thrombocytopenias: molecular mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Megakaryocyte maturation is associated with expression of the CXC chemokine connective tissue-activating peptide CTAP III.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014357

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

31 October 2018

1 reference

12 December 2020

Maturation of megakaryoblastic cells is accompanied by upregulation of G(s)alpha-L subtype and increased cAMP accumulation

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

Inherited thrombocytopenias

1 reference

12 December 2020

10.1016/J.AJHG.2010.12.006

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21211618%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

21211618

1 reference