A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia
dc.contributor.author | Busonero, Fabio | |
dc.contributor.author | Steri, Maristella | |
dc.contributor.author | Orrç, Valeria | |
dc.contributor.author | Sole, Gabriella | |
dc.contributor.author | Olla, Stefania | |
dc.contributor.author | Marongiu, Michele | |
dc.contributor.author | Maschio, Andrea | |
dc.contributor.author | Sidore, Carlo | |
dc.contributor.author | Lai, Sandra | |
dc.contributor.author | Mulas, Antonella | |
dc.contributor.author | Zoledziewska, Magdalena | |
dc.contributor.author | Floris, Matteo | |
dc.contributor.author | Pala, Mauro | |
dc.contributor.author | Forabosco, Paola | |
dc.contributor.author | Asunis, Isadora | |
dc.contributor.author | Pitzalis, Maristella | |
dc.contributor.author | Deidda, Francesca | |
dc.contributor.author | Masala, Marco | |
dc.contributor.author | Caria, Cristian Antonio | |
dc.contributor.author | Barella, Susanna | |
dc.contributor.author | Abecasis, Goncalo R. | |
dc.contributor.author | Schlessinger, David | |
dc.contributor.author | Sanna, Serena | |
dc.contributor.author | Fiorillo, Edoardo | |
dc.contributor.author | Cucca, Francesco | |
dc.date.accessioned | 2021-01-05T18:46:51Z | |
dc.date.available | WITHHELD_12_MONTHS | |
dc.date.available | 2021-01-05T18:46:51Z | |
dc.date.issued | 2020-12 | |
dc.identifier.citation | Busonero, Fabio; Steri, Maristella; Orrç, Valeria ; Sole, Gabriella; Olla, Stefania; Marongiu, Michele; Maschio, Andrea; Sidore, Carlo; Lai, Sandra; Mulas, Antonella; Zoledziewska, Magdalena; Floris, Matteo; Pala, Mauro; Forabosco, Paola; Asunis, Isadora; Pitzalis, Maristella; Deidda, Francesca; Masala, Marco; Caria, Cristian Antonio; Barella, Susanna; Abecasis, Goncalo R.; Schlessinger, David; Sanna, Serena; Fiorillo, Edoardo; Cucca, Francesco (2020). "A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia." British Journal of Haematology 191(5): e124-e128. | |
dc.identifier.issn | 0007-1048 | |
dc.identifier.issn | 1365-2141 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/163879 | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.subject.other | bernard‐Soulier syndrome | |
dc.subject.other | platelet glycoproteins | |
dc.subject.other | functional studies | |
dc.subject.other | platelet count | |
dc.subject.other | genetic analysis | |
dc.subject.other | GP1BB | |
dc.title | A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Oncology and Hematology | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/163879/1/bjh17090.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/163879/2/bjh17090-sup-0019-Supinfo.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/163879/3/bjh17090_am.pdf | |
dc.identifier.doi | 10.1111/bjh.17090 | |
dc.identifier.source | British Journal of Haematology | |
dc.identifier.citedreference | Sidore C, Busonero F, Maschio A, Porcu E, Naitza S, Zoledziewska M, et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat Genet. 2015; 47: 1272 – 81. | |
dc.identifier.citedreference | Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, et al. Clinical and genetic aspects of Bernard‐Soulier syndrome: searching for genotype/phenotype correlations. Haematologica. 2011; 96: 417 – 23. | |
dc.identifier.citedreference | Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, et al. The Genome of the Netherlands: design, and project goals. Eur J Hum Genet. 2014; 22: 221 – 7. | |
dc.identifier.citedreference | Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491: 56 – 65. | |
dc.identifier.citedreference | Berndt MC, Andrews RK. Bernard‐Soulier syndrome. Haematologica. 2011; 96: 355 – 9. | |
dc.identifier.citedreference | Ferrari S, Lombardi AM, Cortella I, Businaro MA, Bertomoro A, Di Pasquale I, et al. New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. Br J Haematol. 2019; 184: 855 – 8. | |
dc.identifier.citedreference | Kunishima S, Naoe T, Kamiya T, Saito H. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. Am J Hematol. 2001; 68: 249 – 55. | |
dc.identifier.citedreference | Qiao J, Davis AK, Morel‐Kopp MC, Ward CM, Gardiner EE, Andrews RK. Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard‐Soulier syndrome. Ann Hematol. 2015; 94: 2069 – 71. | |
dc.identifier.citedreference | Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, et al. Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. Blood. 2017; 129: 520 – 4. | |
dc.identifier.citedreference | Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol‐Moix N, et al. Spectrum of the mutations in Bernard‐Soulier syndrome. Hum Mutat. 2014; 35: 1033 – 45. | |
dc.identifier.citedreference | Noris P, Balduini CL. Inherited thrombocytopenias in the era of personalized medicine. Haematologica. 2015; 100: 145 – 8. | |
dc.identifier.citedreference | Kenny D, Morateck PA, Montgomery RR. The cysteine knot of platelet glycoprotein Ib (GPIb‐beta) is critical for the interaction of GPIb‐beta with GPIX. Blood. 2002; 99: 4428 – 33. | |
dc.identifier.citedreference | Bastida JM, Lozano ML, Benito R, Janusz K, Palma‐Barqueros V, Del Rey M, et al. Introducing high‐throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018; 103: 148 – 62. | |
dc.identifier.citedreference | Fiore M, De Thoré C, Ranjatoelina HR, Baas MJ, Jacquemont ML, Dreyfus M, et al. High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard‐Soulier syndrome in French patients from the genetic isolate of Reunion Island. Br J Haematol. 2020; 189: e67 – e71. | |
dc.identifier.citedreference | McEwan PA, Yang W, Carr KH, et al. Quaternary organization of GPIb‐IX complex and insights into Bernard‐Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera. Blood. 2011; 118: 5292 – 301. | |
dc.identifier.citedreference | Bragadottir G, Birgisdottir ER, Gudmundsdottir BR, Hilmarsdottir B, Vidarsson B, Magnusson MK, et al. Clinical phenotype in heterozygote and biallelic Bernard‐Soulier syndrome‐a case control study. Am J Hematol. 2015; 90: 149 – 55. | |
dc.identifier.citedreference | Hadjkacem B, Elleuch H, Gargouri J, Gargouri A. Bernard‐Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb‐IX complex expression. Ann. Hematol. 2009; 88: 465 – 72. | |
dc.identifier.citedreference | MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, et al. The new NHGRI‐EBI Catalog of published genome‐wide association studies (GWAS Catalog). Nucleic Acids Res. 2017; 45: D896 – 901. | |
dc.identifier.citedreference | Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. BioRxiv, 06 Mar 2019. 2019. https://doi.org/10.1101/563866. PPR:PPR72371. | |
dc.identifier.citedreference | Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss‐of‐function intolerance across human protein‐coding genes. bioRxiv. 2019: 531210. https://doi.org/10.1101/531210. | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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