(Q28506840)

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice (English)

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

GOA release 2020-03-11

author

Richard W. Lo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Fred G Pluthero

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Andrew Weyrich

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Ling Li

3

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Hilary Christensen

5

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Ran Ni

6

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Nima Vaezzadeh

7

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Jorge Di Paola

10

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Carolina Landolt-Marticorena

11

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Walter H A Kahr

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Cynthia E Hawkins

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Peter L Gross

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

English

0 references

publication date

16 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

122

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

issue

19

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

3349-3358

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

5 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

19 March 2017

Chediak-Higashi syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

19 March 2017

12 December 2020

The gray platelet syndrome: clinical spectrum of the disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Bph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Only severe thrombocytopenia results in bleeding and defective thrombus formation in mice.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Does size matter in platelet production?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Functional architecture of Weibel-Palade bodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

von Willebrand factor assembly and secretion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Platelet alpha-granules: basic biology and clinical correlates

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

The biogenesis of platelets from megakaryocyte proplatelets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Mechanisms of organelle transport and capture along proplatelets during platelet production

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Megakaryocyte and platelet structure in thrombocytopoiesis: the effect of cytokines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Multivesicular bodies are an intermediate stage in the formation of platelet alpha-granules.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Transplantation of normal bone marrow into a pig with severe von Willebrand's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

The relationship between megakaryocyte ploidy and platelet volume

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Ultrastructural studies of the gray platelet syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

The organization of microtubules and microtubule coils in giant platelet disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

The BEACH protein LvsB is localized on lysosomes and postlysosomes and limits their fusion with early endosomes.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Gray Platelet Syndrome in a Somalian family.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953091

Dynamic Visualization of Thrombopoiesis Within Bone Marrow

27 November 2018

1 reference

12 December 2020

Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function

1 reference

12 December 2020

Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes

1 reference

12 December 2020

Megakaryocytes endocytose and subsequently modify human factor V in vivo to form the entire pool of a unique platelet-derived cofactor

1 reference

12 December 2020

Culture of murine megakaryocytes and platelets from fetal liver and bone marrow

1 reference

12 December 2020

10.1182/BLOOD-2013-04-499491

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23861251%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

2 references