Literature DB >> 33216977

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

Fabio Busonero1, Maristella Steri1, Valeria Orrù1, Gabriella Sole1, Stefania Olla1, Michele Marongiu1, Andrea Maschio1, Carlo Sidore1, Sandra Lai1, Antonella Mulas1, Magdalena Zoledziewska1, Matteo Floris1,2, Mauro Pala1, Paola Forabosco1, Isadora Asunis1, Maristella Pitzalis1, Francesca Deidda1, Marco Masala1, Cristian Antonio Caria1, Susanna Barella3, Goncalo R Abecasis4, David Schlessinger5, Serena Sanna1, Edoardo Fiorillo1, Francesco Cucca1,2.   

Abstract

Entities:  

Keywords:  GP1BB; bernard-Soulier syndrome; functional studies; genetic analysis; platelet count; platelet glycoproteins

Mesh：

Substances：

Year:  2020        PMID： 33216977      PMCID： PMC8510835          DOI： 10.1111/bjh.17090

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   8.615


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  19 in total

1.  Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.

Authors:  Jianlin Qiao; Amanda K Davis; Marie-Christine Morel-Kopp; Christopher M Ward; Elizabeth E Gardiner; Robert K Andrews
Journal:  Ann Hematol       Date:  2015-08-16       Impact factor: 3.673

2.  Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

Authors:  S Kunishima; T Naoe; T Kamiya; H Saito
Journal:  Am J Hematol       Date:  2001-12       Impact factor: 10.047

3.  Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.

Authors:  Basma Hadjkacem; Henda Elleuch; Jalel Gargouri; Ali Gargouri
Journal:  Ann Hematol       Date:  2008-09-30       Impact factor: 3.673

4.  Bernard-Soulier syndrome.

Authors:  Michael C Berndt; Robert K Andrews
Journal:  Haematologica       Date:  2011-03       Impact factor: 9.941

5.  New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.

Authors:  Silvia Ferrari; Anna M Lombardi; Irene Cortella; Maria A Businaro; Antonella Bertomoro; Irene Di Pasquale; Fabrizio Fabris
Journal:  Br J Haematol       Date:  2018-03-12       Impact factor: 6.998

6.  Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

Authors:  Anna Savoia; Annalisa Pastore; Daniela De Rocco; Elisa Civaschi; Mariateresa Di Stazio; Roberta Bottega; Federica Melazzini; Valeria Bozzi; Alessandro Pecci; Silvana Magrin; Carlo L Balduini; Patrizia Noris
Journal:  Haematologica       Date:  2010-12-20       Impact factor: 9.941

7.  Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Authors:  Suthesh Sivapalaratnam; Sarah K Westbury; Jonathan C Stephens; Daniel Greene; Kate Downes; Anne M Kelly; Claire Lentaigne; William J Astle; Eric G Huizinga; Paquita Nurden; Sofia Papadia; Kathelijne Peerlinck; Christopher J Penkett; David J Perry; Catherine Roughley; Ilenia Simeoni; Kathleen Stirrups; Daniel P Hart; R Campbell Tait; Andrew D Mumford; Michael A Laffan; Kathleen Freson; Willem H Ouwehand; Shinji Kunishima; Ernest Turro
Journal:  Blood       Date:  2016-11-14       Impact factor: 22.113

8.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

9.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Authors:  Carlo Sidore; Fabio Busonero; Andrea Maschio; Eleonora Porcu; Silvia Naitza; Magdalena Zoledziewska; Antonella Mulas; Giorgio Pistis; Maristella Steri; Fabrice Danjou; Alan Kwong; Vicente Diego Ortega Del Vecchyo; Charleston W K Chiang; Jennifer Bragg-Gresham; Maristella Pitzalis; Ramaiah Nagaraja; Brendan Tarrier; Christine Brennan; Sergio Uzzau; Christian Fuchsberger; Rossano Atzeni; Frederic Reinier; Riccardo Berutti; Jie Huang; Nicholas J Timpson; Daniela Toniolo; Paolo Gasparini; Giovanni Malerba; George Dedoussis; Eleftheria Zeggini; Nicole Soranzo; Chris Jones; Robert Lyons; Andrea Angius; Hyun M Kang; John Novembre; Serena Sanna; David Schlessinger; Francesco Cucca; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330

10.  Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Authors:  José M Bastida; María L Lozano; Rocío Benito; Kamila Janusz; Verónica Palma-Barqueros; Mónica Del Rey; Jesús M Hernández-Sánchez; Susana Riesco; Nuria Bermejo; Hermenegildo González-García; Agustín Rodriguez-Alén; Carlos Aguilar; Teresa Sevivas; María F López-Fernández; Anna E Marneth; Bert A van der Reijden; Neil V Morgan; Steve P Watson; Vicente Vicente; Jesús M Hernández-Rivas; José Rivera; José R González-Porras
Journal:  Haematologica       Date:  2017-10-05       Impact factor: 9.941
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