Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Familial thrombocytosis"'
A novel thrombopoietin ( THPO ) mutation altering mRNA splicing in a case of familial thrombocytosis
Autor:
Elodie Laharanne, Aurélie Chauveau, Marina Migeon, Audrey Bidet, Valérie Prouzet-Mauléon, Eric Lippert, Bertille Montibus, Laurent Corcos, Marie Hautin, Chandran Ka
Publikováno v:
British Journal of Haematology
British Journal of Haematology, Wiley, 2020, 190 (2), ⟨10.1111/bjh.16742⟩
British Journal of Haematology, Wiley, 2020, 190 (2), ⟨10.1111/bjh.16742⟩
International audience; No abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c64d394f1f7bc9dfac0ef89907527cd
https://doi.org/10.1111/bjh.16742
https://doi.org/10.1111/bjh.16742
Autor:
Alanoud Alsuhibani, Nahed Aljafn, Ahmed Alsuhaibani, Talal Alharbi, Latefah Aleshaiwi, Mohammed AlBalwi, Naveed Ahmad, Aiman Al-Hazmi, Fatimah Alsumari, Ohoud Alqasim, Mohsen Alzahrani
Publikováno v:
Br J Haematol
Familial thrombocytosis (FT) is a rare hereditary haematological disorder characterised by increased platelet count, usually caused by germ-line mutations in thrombopoietin (THPO), myeloproliferative leukaemia virus oncogene (MPL) or Janus kinase 2 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97f72324bfe52d50b5e6ab2683a3801
https://pubmed.ncbi.nlm.nih.gov/34340263
https://pubmed.ncbi.nlm.nih.gov/34340263
Autor:
Stefan N. Constantinescu, Joaquin Martinez-Lopez, Leila N. Varghese, Elena Sebastián, Alberto Marín-Sánchez, Syonghyun Nam-Cha, Julián Sevilla, Nieves López-Muñoz, Rosa Ayala, Gonzalo Carreño-Tarragona, Eva M. Galvez
Publikováno v:
Leukemia, Vol. 35, no. 11, p. 3295-3298 (2021)
To the Editor: There has been considerable interest in the study of inherited predisposition to myeloproliferative neoplasm (MPN) over the last two decades. Despite this, distinguishing sporadic MPN from familial MPN and hereditary erythrocytosis/thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d030b2f62da0e4d63528e1ec55b0fb88
https://hdl.handle.net/2078.1/244977
https://hdl.handle.net/2078.1/244977
Autor:
Paola Guglielmelli, Laura Calabresi
Publikováno v:
Cellular and Molecular Aspects of Myeloproliferative Neoplasms-Part A ISBN: 9780323899390
Myeloproliferative neoplasms (MPN) patients share driver mutations in JAK2, MPL or CALR genes leading to the activation of the thrombopoietin receptor (TPOR) and downstream signaling pathways. JAK2 mutation drives all the three major entities of MPN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cea87deefe6393e8a492a9ca61126ca4
https://doi.org/10.1016/bs.ircmb.2021.09.003
https://doi.org/10.1016/bs.ircmb.2021.09.003
Autor:
Yasuhisa Yokoyama, Takayasu Kato, Shigeru Chiba, Yasuhito Nannya, Mamiko Sakata-Yanagimoto, Masayuki Noguchi, Seishi Ogawa, Koichiro Maie, Yoko Yano
Publikováno v:
Annals of Hematology. 97:737-739
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcb2e676cb0eb6ba5fe68e375b58be25
https://doi.org/10.1007/s00277-017-3209-1
https://doi.org/10.1007/s00277-017-3209-1
Akademický článek
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Autor:
C. Michel Zwaan, Inge M. Appel, Maite E. Houwing, Valerie de Haas, Jan Stary, Susan T.C.J.M. Arentsen-Peters, Marjolein Blink, Andrica C H de Vries, Dirk Reinhardt, Eva A. Koopman-Coenen, Rogier Kersseboom, Saskia L. Gooskens, Marry M. van den Heuvel-Eibrink, Rob Pieters, Rob H. Lopes Cardozo, André Baruchel
Publikováno v:
International Journal of Hematology, 102(1), 140-143. Springer Japan
We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10dd2fb88c00aa698cdd5e896392b4e
https://pure.eur.nl/en/publications/efb34f52-a946-4b6d-8061-6b74a62a4429
https://pure.eur.nl/en/publications/efb34f52-a946-4b6d-8061-6b74a62a4429
Autor:
Robin Foà, Fiorina Giona, Tonia Cenci, Bianca Maria Ricerca, Carlo Rumi, Luciana Teofili, Maurizio Martini, Giuseppe Leone, Luigi Maria Larocca, Lorenza Torti, Vittorio Nunes
Publikováno v:
Haematologica. 95:65-70
Background The MPLSer505Asn mutation has been reported to be a cause of hereditary thrombocythemia. Recently, we detected this mutation in a large proportion of children with familial thrombocythemia, suggesting that in Italy the incidence of MPLSer5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad818baa1ea3684099ec6a07bcc683f5
https://doi.org/10.3324/haematol.2009.007542
https://doi.org/10.3324/haematol.2009.007542
Autor:
Gudrun Nürnberg, El-Harith A. El-Harith, Jeannette Hübener, Nils von Neuhoff, Manfred Stuhrmann, Manuela Germeshausen, Hildegard Frye-Boukhriss, Cornelia Roesl, Karl Welte, Matthias Ballmaier, Mirghani Ali Mohamed Ahmed, Jörg Schmidtke, Peter Nürnberg, Christian Becker
Publikováno v:
British Journal of Haematology. 144:185-194
Familial thrombosis (FT) has been described as a rare autosomal-dominant disorder, mostly caused by activating mutations of the thrombopoietin gene (THPO). Other cases of FT have been linked to one of two different germline mutations in the myeloprol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0b2e93887cbd1059e19f30f09aa1ba
https://doi.org/10.1111/j.1365-2141.2008.07430.x
https://doi.org/10.1111/j.1365-2141.2008.07430.x