Property Summary

NCBI Gene PubMed Count 66
Grant Count 20
R01 Count 9
Funding $1,135,163.44
PubMed Score 56.37
PubTator Score 57.68

Knowledge Summary

Patent

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Gene RIF (36)

PMID Text
26275786 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome.
26203189 Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains.
23995613 genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel.
23929303 Studies indicate that platelets from Bernard-Soulier syndrome (BSS) are defective in glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbalpha disulfide linked to GPIbbeta, and noncovalently associated with GPIX and GPV.
23566026 a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbbeta gene, even without remarkable symptoms.
22343686 A 14-month-old boy with Bernard-Soulier syndrome was found to be homozygous for a nonsense mutation (c.423C > A) in the glycoprotein Ib-beta.
21908432 GPIbbeta missense mutations from Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression. Mutations A108P and P74R were found to maintain normal secretion/folding of GPIbbeta(E) but were unable to support GPIX surface expression
21699652 Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients.
21529934 GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role.
21507943 GP Ibbeta/GP IX mediates the disulfide-linked GP Ibalpha localization to the GEMs, which is critical for vWf interaction at high shear
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AA Sequence

MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTAL      1 - 70
PPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAA     71 - 140
CAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES        141 - 206
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Text Mined References (71)

PMID Year Title
26275786 2015 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.
26203189 2015 The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23995613 2014 Novel genetic abnormalities in Bernard-Soulier syndrome in India.
23929303 2013 Bernard-Soulier syndrome: an update.
23725790 2013 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
23566026 2013 Bernard-Soulier syndrome caused by a hemizygous GPIb? mutation and 22q11.2 deletion.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22343686 2012 Novel mutation in the glycoprotein Ib? in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
21908432 2011 Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIb? and a GPIb?/GPIX chimera.
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