Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. - Wikidata - wikimedia - TriplyDB

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

http://www.wikidata.org/entity/Q38059249

about

Congenital platelet disorders and understanding of platelet function.αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Glanzmann thrombasthenia: state of the art and future directions.Genetic sequence analysis of inherited bleeding diseases.Genetic dissection of quantitative trait Loci for hemostasis and thrombosis on mouse chromosomes 11 and 5 using congenic and subcongenic strains.Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.Integrin αIIbβ3: from discovery to efficacious therapeutic target Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.NovoSeven (recombinant factor VIIa) for the treatment of bleeding episodes and perioperative management in patients with Glanzmann's thrombasthenia.Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry.Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia.Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression Lessons from recurrent deep vein thrombosis in Glanzmann thrombasthenia.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?

P2860

Q33411778-2FED3546-F1F5-444A-B86F-3405642133E9 Q33421611-FB28AE25-70BE-466F-91F5-791B29497283 Q33571529-F05F94E2-A75A-47F9-B94B-D62AD7BDC699 Q34663589-DE49C8EF-96E2-4B7B-B279-D0C7EC80414F Q35023208-0A9CBB61-8464-4F52-A649-87FAC0454EF5 Q35043549-14DAF62C-7B94-455E-800E-5DA7ED1C3158 Q37011736-4AD7E980-24BF-479E-8684-F6C729897DCE Q37740966-810C8BB1-A4F4-4AF5-A051-22ECBADE02F4 Q38267207-C94E375E-22C9-47DD-9122-3F0D59D10DE4 Q38859457-D3D847A3-80D1-4EC5-8778-9B14D70C4171 Q39181193-24288A59-865A-4F85-99E6-1173556DCB1D Q42238777-6D90795D-3673-4320-A428-B9F161B01D3E Q42355405-8BD5E6CD-3C0C-4986-B329-35B35D8FF0E1 Q45856266-7A892338-3F77-45BE-8DDE-946B63E21E43 Q52448095-C7543A4A-9E3C-49C2-A371-3953DF9FA280

P2860

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

http://www.wikidata.org/entity/Q38059249

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

@en

type

label

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

@en

prefLabel

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

@en

P1433

Q38059249-677E4F2A-B12E-4A9E-956D-64AC06D78D0B

P1476

Q38059249-CB51616F-2FB8-47BA-BBC6-BB486D65D2DA

P2093

Q38059249-0C73CE87-1B71-42B6-8FB8-6CB2D89EB39C

Q38059249-5D20B3CB-BF79-4C00-9A8C-1C50AB967F3D

Q38059249-F25D6655-9680-43E1-A7B1-4B3C41C80532

P2860

Q38059249-0067F225-A9B9-4598-B115-D3A6DBD83519

Q38059249-0F87CF62-610E-4B72-9FE0-692A099D7EAE

Q38059249-0FA82669-A92E-4821-8459-0237F429B18E

Q38059249-10200003-5C74-42FA-BA47-1181D7424D21

Q38059249-12A1B800-56D5-4D89-88D2-FA805992EC09

Q38059249-138239F8-B794-434A-BFF8-05CD5409B44C

Q38059249-144B0D1C-C5A3-48ED-8C0A-737C3B1BC27E

Q38059249-15C801F5-96BD-4555-A3B3-A6192281E820

Q38059249-1A9BBCE0-752F-4AE8-8C67-ACE961E5E2A4

Q38059249-1AF32965-BC40-416B-B95D-EB054940AB89

P304

Q38059249-682FD8FA-9792-44CC-9B38-20E469091426

P31

Q38059249-200531DE-9783-4277-8055-524B3050377B

P356

Q38059249-91D2F3CC-312B-4CB5-AC9A-2AC32E0BB6ED

P433

Q38059249-6FA67F16-D83C-4FC4-958E-516C001B5359

P478

Q38059249-914C096C-D16C-4AA4-A635-262E5FC97714

P577

Q38059249-C10DDCA2-19AE-4431-AF88-2F17BE8DC134

P698

Q38059249-0B757550-1197-4978-B925-46BF13C671FC

P356

P1433

Expert Review of Hematology

P1476

Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.

@en

P2093

Alan T Nurden

http://www.w3.org/2001/XMLSchema#string

Paquita Nurden

http://www.w3.org/2001/XMLSchema#string

Xavier Pillois

http://www.w3.org/2001/XMLSchema#string

P2860

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.

The integrin co-activator Kindlin-3 is expressed and functional in a non-hematopoietic cell, the endothelial cell.

Structure of an integrin IIb 3 transmembrane-cytoplasmic heterocomplex provides insight into integrin activation

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

Kindlin-3 is essential for integrin activation and platelet aggregation

An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.

Sustained engraftment post bone marrow transplant despite anti-platelet antibodies in Glanzmann thrombasthenia.

Pregnancy in mother with Glanzmann's thrombasthenia and isoantibody against GPIIb-IIIa: Is there a foetal risk?

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend.

P304

487-503

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1586/EHM.12.46

http://www.w3.org/2001/XMLSchema#string

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

5

http://www.w3.org/2001/XMLSchema#string

P577

2012-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

23146053

http://www.w3.org/2001/XMLSchema#string