(Q35039053)

English

Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

5 August 2017

Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi (English)

1 reference

Europe PubMed Central

5 August 2017

endoplasmic reticulum

0 references

author name string

E J R Nelson

1

1 reference

Europe PubMed Central

5 August 2017

J Li

2

1 reference

Europe PubMed Central

5 August 2017

W B Mitchell

3

1 reference

Europe PubMed Central

5 August 2017

M Chandy

4

1 reference

Europe PubMed Central

5 August 2017

A Srivastava

5

1 reference

Europe PubMed Central

5 August 2017

B S Coller

6

1 reference

Europe PubMed Central

5 August 2017

publication date

1 December 2005

1 reference

Europe PubMed Central

5 August 2017

Journal of Thrombosis and Haemostasis

1 reference

Europe PubMed Central

5 August 2017

3

1 reference

Europe PubMed Central

5 August 2017

12

1 reference

Europe PubMed Central

5 August 2017

2773-2783

1 reference

Europe PubMed Central

5 August 2017

Structural basis for allostery in integrins and binding to fibrinogen-mimetic therapeutics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Crystal structure of the extracellular segment of integrin alpha Vbeta3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

A two-amino acid insertion in the Cys146- Cys167 loop of the alphaIIb subunit is associated with a variant of Glanzmann thrombasthenia. Critical role of Asp163 in ligand binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Hematologically important mutations: Glanzmann thrombasthenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Molecular requirements for assembly and function of a minimized human integrin alphaIIbbeta3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Molecular defects in interactions of platelets with the vessel wall

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

An Abnormal Platelet Glycoprotein Pattern in Three Cases of Glanzmann's Thrombasthenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombasthenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Glanzmann's thrombasthenia: the spectrum of clinical disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

8 July 2018

Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2005.01593.X

21 January 2018

A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2005.01593.X

21 January 2018

A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

25 October 2018

A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1569905

25 October 2018

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the amino acid requirement for a normal alphaIIbbeta3 maturation at alphaIIbGlu324 commonly mutated in Glanzmann thrombasthenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: comparison of techniques for carrier detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biogenesis of the vitronectin receptor in human endothelial cell: evidence that the vitronectin receptor and GPIIb-IIIa are synthesized by a common mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient surface expression of platelet GPIIb-IIIa requires both subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176Ile in the N-terminal region of alpha IIb subunit integrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and assembly of platelet GPIIb-IIIa in human megakaryocytes: evidence that assembly between pro-GPIIb and GPIIIa is a prerequisite for expression of the complex on the cell surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant of Glanzmann's thrombasthenia characterized by abnormal glycoprotein IIb/IIIa complex formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16359515

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1538-7836.2005.01593.X

1 reference

Europe PubMed Central

5 August 2017

1 reference

Europe PubMed Central

5 August 2017

1 reference

Europe PubMed Central

5 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35039053&oldid=1528134678"