Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Rossella Ghiotto"'
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A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
Autor: Raimondo De Cristofaro, Stefano Duga, Rosanna Asselta, Maria Luisa Tenchini, Meytal Landau, Rossella Ghiotto, Valeria Rimoldi, Giancarlo Castaman, Cristina Bozzao
Publikováno v: FEBS Journal. 274:6128-6138
Coagulation factor XI (FXI) is the zymogen of a serine protease that, when converted to its active form, contributes to blood coagulation through proteolytic activation of factor IX. FXI deficiency is typically an autosomal recessive disorder, charac
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::72782b21a0664c5b33d28073a9095e97
https://doi.org/10.1111/j.1742-4658.2007.06134.x
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2
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect
Autor: Maria Luisa Tenchini, Giancarlo Castaman, Ilaria Guella, Stefano Duga, Rossella Ghiotto, Rosanna Asselta, Silvia Spena, Giulia Soldà
Publikováno v: Thrombosis and haemostasis. 99(3)
SummarySevere factor XI (FXI) deficiency is a bleeding disorder generally inherited as an autosomal recessive trait and characterized by haemorrhagic symptoms mainly associated with injury or surgery. So far, more than 150 causative molecular defects
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc25e12b8dddc318557db71cb8471cf
https://pubmed.ncbi.nlm.nih.gov/18327400
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3
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
Autor: Cristina, Bozzao, Valeria, Rimoldi, Rosanna, Asselta, Meytal, Landau, Rossella, Ghiotto, Maria L, Tenchini, Raimondo, De Cristofaro, Giancarlo, Castaman, Stefano, Duga
Publikováno v: The FEBS journal. 274(23)
Coagulation factor XI (FXI) is the zymogen of a serine protease that, when converted to its active form, contributes to blood coagulation through proteolytic activation of factor IX. FXI deficiency is typically an autosomal recessive disorder, charac
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6986000c8aaf85a7babb516bc592d043
https://pubmed.ncbi.nlm.nih.gov/17971173
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4
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
Autor: Giulia, Soldà, Rosanna, Asselta, Rossella, Ghiotto, Maria Luisa, Tenchini, Giancarlo, Castaman, Stefano, Duga
Publikováno v: Haematologica. 90(12)
The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d190f8b889d28e578c00c079b80d4469
https://pubmed.ncbi.nlm.nih.gov/16330457
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