Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Maria Luisa Tenchini"'
Autor:
Claudia Dall'Osso, Ilaria Guella, Stefano Duga, Nadia Locatelli, Elvezia Maria Paraboschi, Marta Spreafico, Abdolreza Afrasiabi, Christoph Pechlaner, Flora Peyvandi, Maria Luisa Tenchini, Rosanna Asselta
Publikováno v:
Haematologica, Vol 93, Iss 10 (2008)
Background Factor V deficiency is a rare autosomal recessive hemorrhagic disorder, associated with bleeding manifestations of variable severity. In the present study, we investigated the molecular basis of factor V deficiency in three patients, and p
Externí odkaz:
https://doaj.org/article/d710d9bb0a49475c84e52b8e27b3daa8
Autor:
Giorgia Zadra, Rosanna Asselta, Maria Luisa Tenchini, Giancarlo Castaman, Uri Seligsohn, Pier Mannuccio Mannucci, Stefano Duga
Publikováno v:
Haematologica, Vol 93, Iss 5 (2008)
Background Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles. In non-Jewish populations, a
Externí odkaz:
https://doaj.org/article/6a9f88f649334ac293993782ba1f585d
Autor:
Uri Seligsohn, Stefano Duga, Rosanna Asselta, Pier Mannuccio Mannucci, Giancarlo Castaman, Giorgia Zadra, Maria Luisa Tenchini
Publikováno v:
Haematologica. 93:715-721
Background Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles. In non-Jewish populations, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b1ca611a2d87a350f84f2cc7646119
https://doi.org/10.3324/haematol.12180
https://doi.org/10.3324/haematol.12180
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
https://doi.org/10.1111/j.1742-4658.2007.06134.x
Autor:
Maria Luisa Tenchini, Rosanna Asselta, Giancarlo Castaman, Silvia Spena, Manuela Platé, Stefano Duga
Publikováno v:
British Journal of Haematology. 139:128-132
Congenital afibrinogenaemia, characterized by severe fibrinogen deficiency, is caused by mutations within FGA, FGB or FGG. Conventional sequencing of coding regions and splice signals of these three genes did not reveal any mutation in an afibrinogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d754f1d09ddb8803d1b9a7eef93a28
https://doi.org/10.1111/j.1365-2141.2007.06758.x
https://doi.org/10.1111/j.1365-2141.2007.06758.x
Autor:
Fred Schaper, Ute Albrecht, Xiang-Ping Yang, Verena Keitel, Maria Luisa Tenchini, Stephan Ludwig, Peter C. Heinrich, Dieter Häussinger, Rosanna Asselta, Johannes G. Bode
Publikováno v:
Cellular Signalling. 19:1866-1878
Despite the essential role of the fibrinogen gamma-chain as a blood clotting factor, the fibrinogen gamma-chain contains a number of interaction sites to recruit other factors such as leukocytes important for prevention of pathogen entry and propagat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db38d6fa972a8ca2b0246886e61c69b
https://doi.org/10.1016/j.cellsig.2007.04.007
https://doi.org/10.1016/j.cellsig.2007.04.007
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772(7):781-787
Congenital afibrinogenemia is a rare coagulopathy characterized by extremely low levels of functional and immunoreactive fibrinogen in plasma, associated with a hemorrhagic phenotype of variable severity. It is transmitted as an autosomal recessive t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692eea8ca8627bfbd8db5ec8741b07c2
Autor:
E. Ferrara, Sandro Ardizzone, Gabriele Bianchi Porro, Giovanni Maconi, Maria Luisa Tenchini, Antonio Russo, Vera Bianchi, Elisabetta Colombo
Publikováno v:
European Journal of Gastroenterology & Hepatology. 19:217-223
Aims To confirm the prevalence of NOD2/CARD15 mutations in Italian inflammatory bowel disease patients and to define the role of the different mutations on Crohn's disease phenotype. Patients and methods A total of 177 patients with Crohn's disease a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af4346f1bfa536aa1a4b7b2ed2b64b15
https://doi.org/10.1097/01.meg.0000250590.84102.12
https://doi.org/10.1097/01.meg.0000250590.84102.12
Publikováno v:
Journal of Thrombosis and Haemostasis. 4:2115-2129
Hereditary fibrinogen disorders include type I deficiencies (afibrinogenemia and hypofibrinogenemia, i.e. quantitative defects), with low or unmeasurable levels of immunoreactive protein; and type II deficiencies (dysfibrinogenemia and hypodysfibrino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac101eed855964c34e2bab93c4d51a2
https://doi.org/10.1111/j.1538-7836.2006.02094.x
https://doi.org/10.1111/j.1538-7836.2006.02094.x
Publikováno v:
RNA. 12:948-958
In this work we report the identification of a strong SF2/ASF binding site within exon 7 of the human fibrinogen Bβ-chain gene (FGB). Its disruption in the wild-type context has no effect on exon recognition. However, when the mutation IVS7 + 1G>T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ca2c162f7e7e34d8e41e6cc26f2956
https://doi.org/10.1261/rna.2269306
https://doi.org/10.1261/rna.2269306