Literature DB >> 31997307

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.

Mathieu Fiore1, Céline De Thoré1, Hanitra Randrianaivo-Ranjatoelina2, Marie-Jeanne Baas3, Marie-Line Jacquemont2, Marie Dreyfus4, Cécile Lavenu-Bombled4, Renhao Li5, Christian Gachet3, Arnaud Dupuis3, Francois Lanza3.   

Abstract

Entities:  

Keywords:  Bernard-Soulier syndrome; GP1BB; Leucin-rich repeat domain; Reunion Island; platelet GPIbβ

Mesh：

Substances：

Year:  2020        PMID： 31997307      PMCID： PMC7263367          DOI： 10.1111/bjh.16479

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  8 in total

1.  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

2.  Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.

Authors:  Gudrun Bragadottir; Elisabet R Birgisdottir; Brynja R Gudmundsdottir; Bylgja Hilmarsdottir; Brynjar Vidarsson; Magnus K Magnusson; Ole Halfdan Larsen; Benny Sorensen; Jorgen Ingerslev; Pall T Onundarson
Journal:  Am J Hematol       Date:  2014-11-24       Impact factor: 10.047

Review 3.  Advances in our understanding of the molecular basis of disorders of platelet function.

Authors:  A Nurden; P Nurden
Journal:  J Thromb Haemost       Date:  2011-07       Impact factor: 5.824

4.  Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

Authors:  F Rodius; F Duclos; K Wrogemann; D Le Paslier; P Ougen; A Billault; S Belal; C Musenger; A Brice; A Dürr
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

5.  A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.

Authors:  Catherine Strassel; Jean-Max Pasquet; Marie-Christine Alessi; Irène Juhan-Vague; Hervé Chambost; Robert Combrié; Paquita Nurden; Marie-Jeanne Bas; Corinne De La Salle; Jean-Pierre Cazenave; François Lanza; Alan T Nurden
Journal:  Biochemistry       Date:  2003-04-22       Impact factor: 3.162

6.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Authors:  I Richard; O Broux; V Allamand; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; C Roudaut
Journal:  Cell       Date:  1995-04-07       Impact factor: 41.582

7.  Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.

Authors:  Paul A McEwan; Wenjun Yang; Katherine H Carr; Xi Mo; Xiaofeng Zheng; Renhao Li; Jonas Emsley
Journal:  Blood       Date:  2011-09-08       Impact factor: 22.113

Review 8.  Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

Authors:  François Lanza
Journal:  Orphanet J Rare Dis       Date:  2006-11-16       Impact factor: 4.123
  8 in total
  1 in total

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

Authors:  Fabio Busonero; Maristella Steri; Valeria Orrù; Gabriella Sole; Stefania Olla; Michele Marongiu; Andrea Maschio; Carlo Sidore; Sandra Lai; Antonella Mulas; Magdalena Zoledziewska; Matteo Floris; Mauro Pala; Paola Forabosco; Isadora Asunis; Maristella Pitzalis; Francesca Deidda; Marco Masala; Cristian Antonio Caria; Susanna Barella; Goncalo R Abecasis; David Schlessinger; Serena Sanna; Edoardo Fiorillo; Francesco Cucca
Journal:  Br J Haematol       Date:  2020-11-20       Impact factor: 8.615
  1 in total

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