Literature DB >> 19773258

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.

Manuela Platè, Stefano Duga, Luciano Baronciani, Silvia La Marca, Valentina Rubini, Pier Mannuccio Mannucci, Augusto B Federici, Rosanna Asselta.   

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Year:  2009        PMID： 19773258      PMCID： PMC2805751          DOI： 10.3324/haematol.2009.012336

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  8 in total

1.  Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.

Authors:  Sven Danckwardt; Gabriele Neu-Yilik; Rolf Thermann; Ute Frede; Matthias W Hentze; Andreas E Kulozik
Journal:  Blood       Date:  2002-03-01       Impact factor: 22.113

Review 2.  Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Authors:  Giancarlo Castaman; Augusto B Federici; Francesco Rodeghiero; Pier Mannuccio Mannucci
Journal:  Haematologica       Date:  2003-01       Impact factor: 9.941

Review 3.  Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function.

Authors:  Olaf Isken; Lynne E Maquat
Journal:  Genes Dev       Date:  2007-08-01       Impact factor: 11.361

4.  An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.

Authors:  Anthony Cumming; Pamela Grundy; Stephen Keeney; William Lester; Said Enayat; Andrea Guilliatt; Derrick Bowen; John Pasi; David Keeling; Frank Hill; Paula H B Bolton-Maggs; Charles Hay; Peter Collins
Journal:  Thromb Haemost       Date:  2006-11       Impact factor: 5.249

5.  Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.

Authors:  Luciano Baronciani; Giovanna Cozzi; Maria Teresa Canciani; Flora Peyvandi; Alok Srivastava; Augusto B Federici; Pier Mannuccio Mannucci
Journal:  Blood Cells Mol Dis       Date:  2003 May-Jun       Impact factor: 3.039

6.  A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing.

Authors:  K L Mohlke; W C Nichols; A Rehemtulla; R J Kaufman; H M Fagerström; K L Ritvanen; R Kekomăki; D Ginsburg
Journal:  Br J Haematol       Date:  1996-10       Impact factor: 6.998

7.  Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA.

Authors:  J C Eikenboom; H K Ploos van Amstel; P H Reitsma; E Briët
Journal:  Thromb Haemost       Date:  1992-10-05       Impact factor: 5.249

8.  A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.

Authors:  Natacha Dreumont; Antonella Maresca; Jean-François Boisclair-Lachance; Anne Bergeron; Robert M Tanguay
Journal:  BMC Mol Biol       Date:  2005-01-07       Impact factor: 2.946
  8 in total
  8 in total

1.  Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Authors:  Marie-Daniéla Dubois; Ivan Peyron; Olivier-Nicolas Pierre-Louis; Serge Pierre-Louis; Johalène Rabout; Pierre Boisseau; Annika de Jong; Sophie Susen; Jenny Goudemand; Rémi Neviere; Pascal Fuseau; Olivier D Christophe; Peter J Lenting; Cécile V Denis; Caterina Casari
Journal:  Res Pract Thromb Haemost       Date:  2022-06-15

2.  Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.

Authors:  Lindsey Hawke; Mackenzie L Bowman; Man-Chiu Poon; Mary-Frances Scully; Georges-Etienne Rivard; Paula D James
Journal:  Blood       Date:  2016-06-17       Impact factor: 22.113

3.  Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Authors:  Omid Seidizadeh; Luciano Baronciani; Maria Teresa Pagliari; Giovanna Cozzi; Paola Colpani; Andrea Cairo; Simona Maria Siboni; Eugenia Biguzzi; Flora Peyvandi
Journal:  Blood Adv       Date:  2022-07-12

Review 4.  Nonsense-mediated mRNA decay among coagulation factor genes.

Authors:  Shirin Shahbazi
Journal:  Iran J Basic Med Sci       Date:  2016-04       Impact factor: 2.699

5.  An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.

Authors:  Zunjing Xia; Jie Lin; Lingping Lu; Chol Kim; Ping Yu; Ming Qi
Journal:  Blood Coagul Fibrinolysis       Date:  2018-06       Impact factor: 1.276

6.  Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.

Authors:  Viviana Daidone; Eva Galletta; Luigi De Marco; Alessandra Casonato
Journal:  Haematologica       Date:  2019-07-18       Impact factor: 9.941

7.  Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Authors:  Richard D Starke; Koralia E Paschalaki; Clare E F Dyer; Kimberly J Harrison-Lavoie; Jacqueline A Cutler; Thomas A J McKinnon; Carolyn M Millar; Daniel F Cutler; Mike A Laffan; Anna M Randi
Journal:  Blood       Date:  2013-01-25       Impact factor: 22.113

8.  Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Authors:  Luciano Baronciani; Ian Peake; Reinhard Schneppenheim; Anne Goodeve; Minoo Ahmadinejad; Zahra Badiee; Mohammad-Reza Baghaipour; Olga Benitez; Imre Bodó; Ulrich Budde; Andrea Cairo; Giancarlo Castaman; Peyman Eshghi; Jenny Goudemand; Wolf Hassenpflug; Hamid Hoorfar; Mehran Karimi; Bijan Keikhaei; Riitta Lassila; Frank W G Leebeek; Maria Fernanda Lopez Fernandez; Pier Mannuccio Mannucci; Renato Marino; Nikolas Nikšić; Florian Oyen; Cristina Santoro; Andreas Tiede; Gholamreza Toogeh; Alberto Tosetto; Marc Trossaert; Eva M K Zetterberg; Jeroen Eikenboom; Augusto B Federici; Flora Peyvandi
Journal:  Blood Adv       Date:  2021-08-10
  8 in total

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