Glanzmann thrombasthenia

scientific article

Glanzmann thrombasthenia is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1016228805
P356DOI10.1186/1750-1172-1-10
P932PMC publication ID1475837
P698PubMed publication ID16722529
P5875ResearchGate publication ID7059366

P50authorAlan T NurdenQ88562454
P2860cites workFamily screening for a Glanzmann's thrombasthenia mutation using PCR-SSCP.Q45817673
The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombastheniaQ45880844
Specific synergy of multiple substrate-receptor interactions in platelet thrombus formation under flow.Q45967882
Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann's thrombasthenia: results of an international survey.Q47287128
Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.Q47720581
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.Q47730309
The human integrin beta3 gene is 63 kb and contains a 5'-UTR sequence regulating expression.Q48043111
Rational use of the PFA-100 device for screening of platelet function disorders and von Willebrand disease.Q52039815
Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in IranQ61040725
CD40L stabilizes arterial thrombi by a β3 integrin–dependent mechanismQ63354517
Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi-Jewish patients by polymerase chain reaction and restriction analysis of blood or urine samplesQ67866855
Prenatal diagnosis of Glanzmann's thrombastheniaQ69875023
Complete correction of Glanzmann's thrombasthenia by allogeneic bone-marrow transplantationQ69888542
The formation of Ca++-dependent complexes of platelet membrane glycoproteins IIb and IIIa in solution as determined by crossed immunoelectrophoresisQ70549345
The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb geneQ71911678
The use of recombinant factor VIIa in children with inherited platelet function disordersQ73320925
The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosisQ73691007
Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombastheniaQ73903668
Thrombocytoasthenia and thrombocytopathia-old names and new diseasesQ74242714
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patientsQ74359721
Analysis of the amino acid requirement for a normal alphaIIbbeta3 maturation at alphaIIbGlu324 commonly mutated in Glanzmann thrombastheniaQ78321200
Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti-glycoprotein IIb-IIIa antibodiesQ78630148
Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber modelQ78630152
The molecular genetics of Glanzmann's thrombastheniaQ79774022
Elevated Flk1 (vascular endothelial growth factor receptor 2) signaling mediates enhanced angiogenesis in beta3-integrin-deficient miceQ81085089
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patientsQ81479252
Integrins: versatility, modulation, and signaling in cell adhesionQ27860844
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 thrombastheniaQ28118972
Molecular basis of Glanzmann's Thrombasthenia and current strategies in treatmentQ28216926
Integrins: dynamic scaffolds for adhesion and signaling in plateletsQ28267584
Persistence of platelet thrombus formation in arterioles of mice lacking both von Willebrand factor and fibrinogenQ28588951
Human IgG monoclonal anti-alpha(IIb)beta(3)-binding fragments derived from immunized donors using phage displayQ30805062
Specific roles for platelet surface glycoproteins in platelet functionQ33339641
Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorderQ33363083
Autoimmune thrombocytopenic purpura (AITP) and acquired thrombasthenia due to autoantibodies to GP IIb-IIIa in a patient with an unusual platelet membrane glycoprotein compositionQ33501616
Platelet glycoprotein IIb/IIIa inhibitors: basic and clinical aspects.Q33790993
Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclastsQ33939357
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutationQ34221553
Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in IsraelQ34571418
Structural basis for allostery in integrins and binding to fibrinogen-mimetic therapeuticsQ35213036
Gene therapy for platelet disorders: studies with Glanzmann's thrombastheniaQ35589483
Folding of the N-terminal, ligand-binding region of integrin alpha-subunits into a beta-propeller domainQ35899468
Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complexQ37374506
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in IsraelQ37478529
Glanzmann's thrombasthenia: the spectrum of clinical diseaseQ37909047
A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complexQ38311244
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformationQ38339624
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatusQ40667595
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesisQ40691230
Missense mutations in the beta(3) subunit have a different impact on the expression and function between alpha(IIb)beta(3) and alpha(v)beta(3).Q40755458
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotypeQ40776610
Probing conformational changes in the I-like domain and the cysteine-rich repeat of human beta 3 integrins following disulfide bond disruption by cysteine mutations: identification of cysteine 598 involved in alphaIIbbeta3 activationQ40785864
R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndromeQ40991444
Patients with Glanzmann thrombasthenia lacking platelet glycoprotein alpha(IIb)beta(3) (GPIIb/IIIa) and alpha(v)beta(3) receptors are not protected from atherosclerosisQ43904601
Recombinant factor VIIa enhances deposition of platelets with congenital or acquired alpha IIb beta 3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor-independent thrombin generationQ44201546
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 defectsQ44265494
Dynamics of GPIIb/IIIa-mediated platelet-platelet interactions in platelet adhesion/thrombus formation on collagen in vitro as revealed by videomicroscopyQ44279137
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigreesQ44958587
P275copyright licenseCreative Commons Attribution 2.0 GenericQ19125117
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectGlanzmann's thrombastheniaQ1529258
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)10
P577publication date2006-04-06
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleGlanzmann thrombasthenia
P478volume1

Reverse relations

cites work (P2860)
Q39976534A Toll-like receptor 2-integrin beta3 complex senses bacterial lipopeptides via vitronectin.
Q41144341A dual role for integrin-linked kinase in platelets: regulating integrin function and alpha-granule secretion
Q39434031A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIb β3 to an active state
Q46804451A new case of acquired Glanzmann's thrombasthenia: diagnostic value of flow cytometry
Q44187162A rare case of bleeding disorder: Glanzmann's thrombasthenia
Q64227043Abdominal Surgical Emergencies in Patients with Hematological Disorders: An Exacting Experience for Surgeons
Q82212913Acute Epidural Hematoma in a Patient With Glanzmann's Thrombasthenia -Case Report-
Q37903933Advances in our understanding of the molecular basis of disorders of platelet function
Q39939850AlphaIIbG236E causes Glanzmann thrombasthenia by impairing association with beta3.
Q38006908Atomic force microscopy-based force spectroscopy--biological and biomedical applications
Q37740966Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions
Q37294541Biomechanics of haemostasis and thrombosis in health and disease: from the macro- to molecular scale
Q47256063Cartilage acidic protein 1, a new member of the beta-propeller protein family with amyloid propensity
Q40238642Clinical Management of Glanzmann's Thrombasthenia: A Case Report
Q88418012Clinical and molecular insights into Glanzmann's thrombasthenia in China
Q42007238Clinical utility gene card for: Glanzmann thrombasthenia
Q34988402Comparison of platelet aggregation using light transmission and multiple electrode aggregometry in Glanzmann thrombasthenia
Q35013677Delineating the roles of the GPIIb/IIIa and GP-Ib-IX-V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin.
Q41926876Diagnosis and Management of Inherited Platelet Disorders
Q33383957Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
Q39181193Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
Q51751582Excessive gingival bleeding in two patients with Glanzmann thrombasthenia.
Q35762807Extracellular matrix proteins in hemostasis and thrombosis
Q35230088Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
Q30487560Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins
Q54466253GDF-15 prevents platelet integrin activation and thrombus formation.
Q36532813Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations
Q33436665Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes
Q36250455Glanzmann thrombasthenia: about 11 cases
Q90089304Glanzmann thrombasthenia: genetic basis and clinical correlates
Q35106390Glanzmann's Thrombasthenia: A Rare Cause of Recurrent Profuse Epistaxis
Q97644677Glanzmann's Thrombasthenia: How Listening to the Patient Is Sometimes the Simple Key to Good Medicine!
Q34030931Glanzmann's thrombasthenia and pregnancy: report of a case and literature review
Q90655541Glanzmann's thrombasthenia with spontaneous upper gastrointestinal bleeding: a case report
Q34859954Glanzmann's thrombasthenia: an overview
Q37903946Gynecological and obstetrical manifestations of inherited bleeding disorders in women
Q40810885Hematuria: an uncommon presentation of Glanzmann's thrombasthenia-lessons learnt
Q38978645Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann's Thrombasthenia
Q33404901Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis
Q33396427Inherited platelet disorders: a clinical approach to diagnosis and management
Q42139661Innovative use of recombinant activated factor VII during physical rehabilitation in an Italian child with Glanzmann's thromboasthenia
Q33952812L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
Q51746863Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series.
Q55649547Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia.
Q58569783Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann's Thrombasthenia
Q33375248Murine models of platelet diseases
Q34120335Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia
Q45876489Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients
Q26766249New Insights Into the Treatment of Glanzmann Thrombasthenia
Q42365100Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia
Q53393838Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
Q38267207NovoSeven (recombinant factor VIIa) for the treatment of bleeding episodes and perioperative management in patients with Glanzmann's thrombasthenia
Q38258281Of von Willebrand factor and platelets
Q31059222Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes
Q46306416Oxidative stress induced modulation of platelet integrin α2bβ3 expression and shedding may predict the risk of major bleeding in heart failure patients supported by continuous flow left ventricular assist devices
Q45919746Perioperative management of a patient with glanzmann's thrombasthenia for mitral valve repair under cardiopulmonary bypass.
Q44522050Platelet Integrins in Tumor Metastasis: Do They Represent a Therapeutic Target?
Q28077729Platelet Shape Changes and Cytoskeleton Dynamics as Novel Therapeutic Targets for Anti-Thrombotic Drugs
Q37903934Platelet adhesion and activation mechanisms in arterial thrombosis and ischaemic stroke
Q37807924Platelet receptor signaling in thrombus formation
Q37825820Recent advances in the understanding of the molecular mechanisms regulating platelet integrin αIIbβ3 activation
Q33553506Recognition and management of platelet-refractory bleeding in patients with Glanzmann's thrombasthenia and other severe platelet function disorders
Q33391528Specificities of neonatal hemostasis and implications in pathologic situations
Q90362013Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders
Q36168430Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
Q38183284Talin and kindlin: the one-two punch in integrin activation
Q89660060The Extracellular Matrix: An Accomplice in Gastric Cancer Development and Progression
Q38257042Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report
Q37812365Treatment and outcomes for epistaxis in children with Glanzmann's thrombasthenia
Q36874262What's new in using platelet research? To unravel thrombopathies and other human disorders

Q64083979Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutationsmain subjectP921

Search more.