Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen

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Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1028840669
P356DOI10.1007/S12185-012-1216-5
P698PubMed publication ID23143686
P5875ResearchGate publication ID233395871

P2093author name stringTaisuke Kanaji
Yutaka Imamura
Masaaki Moroi
Eisaburo Sueoka
Takashi Okamura
Masayuki Sano
Ritsuko Seki
Yuka Takata
Sachie Nakazato
P2860cites workQuaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimeraQ24627629
Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting plateletQ24681433
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndromeQ28199669
Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndromeQ28219298
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IXQ28246039
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndromeQ28268510
Bernard-Soulier syndromeQ28972536
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.Q33328670
Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndromeQ33336793
Bernard–Soulier syndrome due to the homozygous Asn‐45Ser mutation in GPIX: an unexpected, frequent finding in GermanyQ33356942
Von Willebrand factor accelerates platelet adhesion and thrombus formation on a collagen surface in platelet-reduced blood under flow conditionsQ33363065
Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutationsQ33372673
First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.Q33376524
A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.Q33384286
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlationsQ33393362
Heat-shock protein gp96/grp94 is an essential chaperone for the platelet glycoprotein Ib-IX-V complexQ33395341
Expression and characterization of functionally active fragments of the platelet glycoprotein (GP) Ib-IX complex in mammalian cells. Incorporation of GP Ib alpha into the cell surface membrane.Q38315791
Requirements for cell surface expression of the human TCR/CD3 complex in non-T cellsQ38335904
The platelet glycoprotein Ib-IX complexQ40751091
Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complexQ43143824
Convulxin binds to native, human glycoprotein Ib alphaQ44526100
Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndromeQ45194366
Efficient plasma membrane expression of a functional platelet glycoprotein Ib-IX complex requires the presence of its three subunitsQ46244502
Recurrent mutation Asn45-->Ser of glycoprotein IX in Bernard-Soulier syndromeQ61408398
A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier syndrome (BSS)Q62128293
Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalitiesQ71441004
Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIXQ72776616
Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha geneQ73553814
Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndromeQ73634959
Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndromeQ74526014
Bernard-Soulier syndromeQ74620434
Von Willebrand factorQ78961529
A mechanism to safeguard platelet adhesion under high shear flow: von Willebrand factor-glycoprotein Ib and integrin alphabeta-collagen interactions make complementary, collagen-type-specific contributions to adhesionQ80097587
Are integrin alpha(2)beta(1), glycoprotein Ib and vWf levels correlated with their contributions to platelet adhesion on collagen under high-shear flow?Q82460284
Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpuraQ83938146
P433issue6
P304page(s)733-742
P577publication date2012-11-11
P1433published inInternational Journal of HematologyQ6051416
P1476titlePlatelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen
P478volume96

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cites work (P2860)
Q33416758Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome
Q38220681Spectrum of the mutations in Bernard-Soulier syndrome

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