Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Hanna T, Gazda"'
Autor:
Csaba Siffel, Abhinav Wadhwa, Vanita Tongbram, Margaret Katana Ogongo, Henrik Sliwka, Hanna T. Gazda, Peter L. Turecek
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 8, Iss 6, Pp 102542- (2024)
Severe congenital protein C deficiency (SCPCD) is a rare disorder associated with life-threatening purpura fulminans and disseminated intravascular coagulation that typically present within hours after birth. Treatment options for patients with SCPCD
Externí odkaz:
https://doaj.org/article/3d97240d20104b3c908fe848be8b3dae
Autor:
Bülent Zülfikar, Johnny Mahlangu, Salim Mohamed Nekkal, Cecil Ross, Noppacharn Uaprasert, Jerzy Windyga, Carmen Escuriola Ettingshausen, Bettina Ploder, Aurelia Lelli, Hanna T. Gazda
Publikováno v:
TH Open, Vol 08, Iss 03, Pp e273-e282 (2024)
Background Activated prothrombin complex concentrate (aPCC) is indicated for bleed treatment and prevention in patients with hemophilia with inhibitors. The safety and tolerability of intravenous aPCC at a reduced volume and faster infusion rates wer
Externí odkaz:
https://doaj.org/article/d6aef7dc90ac43e488c3d85c23242dd4
Autor:
Michael Wang, Hans-Jörg Hertfelder, Elyse Swallow, Alexandra Greatsinger, Emma Billmyer, Samson Fung, Peter L. Turecek, Hanna T. Gazda, Csaba Siffel
Publikováno v:
Thrombosis Update, Vol 14, Iss , Pp 100159- (2024)
Introduction: Replacement therapy with intravenous (IV) protein C concentrate (Ceprotin®; Baxalta US Inc., a Takeda company, Lexington, MA, USA; Takeda Manufacturing Austria AG, Vienna, Austria) is an approved treatment approach for patients with se
Externí odkaz:
https://doaj.org/article/f3df5e87cbf74ca7849c3d2e702bd4b3
Autor:
Nadia Danilova, Hanna T. Gazda
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 9, Pp 1013-1026 (2015)
Defects in ribosome biogenesis are associated with a group of diseases called the ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes are composed of ribosomal proteins (RPs) and ribosomal RNA (rRNA). RPs and multip
Externí odkaz:
https://doaj.org/article/d78a9748aefd4a38a9fb770a240e4779
Autor:
Harry F Heijnen, Richard van Wijk, Tamara C Pereboom, Yvonne J Goos, Cor W Seinen, Brigitte A van Oirschot, Rowie van Dooren, Marc Gastou, Rachel H Giles, Wouter van Solinge, Taco W Kuijpers, Hanna T Gazda, Marc B Bierings, Lydie Da Costa, Alyson W MacInnes
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004371 (2014)
Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the
Externí odkaz:
https://doaj.org/article/25556d82d8954cb899e0a1e170a1ff3c
Autor:
Benjamin L. Ebert, Anindita Roy, Barbara Zieger, Caleb A. Lareau, Marcin W. Wlodarski, Vijay G. Sankaran, Philip Ancliff, Namrata Gupta, Nour J. Abdulhay, Charlotte M. Niemeyer, Hanna T. Gazda, Jeffrey M. Verboon, Stacey Gabriel, Miriam Erlacher, Leif S. Ludwig, Xiaoli Mi, Esther A. Obeng, Rami Khoriaty, Claudia Fiorini, Jacob C. Ulirsch
Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the pathogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23654e534b656285f62dc7904aebe6fd
https://doi.org/10.1084/jem.20181625
https://doi.org/10.1084/jem.20181625
Autor:
Izabela Jatczak-Pawlik, Anna Madetko-Talowska, Wojciech Młynarski, Edyta Odnoczko, Joanna Zdziarska, Katarzyna Babol-Pokora, Danuta Pietrys, Teresa Iwaniec, Rafał Płoski, Walentyna Balwierz, Beata Sadowska, Jerzy Windyga, Szymon Janczar, Hanna T. Gazda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bab6d79fef9f0a2351bcf72be07eccb
https://ruj.uj.edu.pl/xmlui/handle/item/256192
https://ruj.uj.edu.pl/xmlui/handle/item/256192
Autor:
Aaron Cheng, David J. Amor, Colin A. Sieff, Nour J. Abdulhay, Claudia Fiorini, David G. Nathan, Beryl B. Cummings, Bertil Glader, Leif S. Ludwig, Peter E. Newburger, Stacey Gabriel, Giulio Genovese, Anupama Narla, Daniel G. MacArthur, Shideh Kazerounian, Alan H. Beggs, Edyta Niewiadomska, Namrata Gupta, Elaine T. Lim, Ron Do, Adrianna Vlachos, Casie A. Genetti, Katherine R. Chao, Pierre-Emmanuel Gleizes, Jeffrey M. Verboon, Jeffrey M. Lipton, Hanna T. Gazda, Lydie Da Costa, Jacob C. Ulirsch, Andrei A. Korostelev, Robert E. Handsaker, Eric S. Lander, Daniel Yuan, Steven A. McCarroll, Michał Matysiak, Vijay G. Sankaran, Monkol Lek, Michael H. Guo, Eva Atsidaftos, Anne H. O’Donnell-Luria, Marie-Françoise O'Donohue, Nathalie Montel-Lehry
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Prof. Lander via Courtney Crummett
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b986a5d91a95cc9f563054c8ec96f0
https://hal.archives-ouvertes.fr/hal-02328160
https://hal.archives-ouvertes.fr/hal-02328160
Autor:
Nour J, Abdulhay, Claudia, Fiorini, Jeffrey M, Verboon, Leif S, Ludwig, Jacob C, Ulirsch, Barbara, Zieger, Caleb A, Lareau, Xiaoli, Mi, Anindita, Roy, Esther A, Obeng, Miriam, Erlacher, Namrata, Gupta, Stacey B, Gabriel, Benjamin L, Ebert, Charlotte M, Niemeyer, Rami N, Khoriaty, Philip, Ancliff, Hanna T, Gazda, Marcin W, Wlodarski, Vijay G, Sankaran
Publikováno v:
The Journal of Experimental Medicine
Abdulhay et al. report that an intronic genetic variant alters GATA1 splicing and presents as a distinct form of dyserythropoietic anemia in two unrelated patients. Functional studies demonstrate that the novel GATA1 isoform lacks observable activity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f60c953752ba0f782626d757aedfc421
https://pubmed.ncbi.nlm.nih.gov/30914438
https://pubmed.ncbi.nlm.nih.gov/30914438
Autor:
Leif S. Ludwig, Jacob C. Ulirsch, Vikram Govind Panse, Steven A. Carr, D. R. Mani, Harrison Specht, Mathias Munschauer, Hanna T. Gazda, Olga K. Weinberg, Claudia Fiorini, Jesse M. Engreitz, Hasmik Keshishian, Sean K. McFarland, Karen W. Gripp, Aviv Regev, Winston Y. Lee, Vijay G. Sankaran, Geraldine S. Pinkus, Nour J. Abdulhay, John Lian, Rajiv K. Khajuria, Lee Gehrke, Steven R. Ellis, Charles P. Fulco, Eric S. Lander, Marko Jovanovic, Sabina Schütz
Publikováno v:
PMC
Blood cell formation is classically thought to occur through a hierarchical differentiation process, although recent studies have shown that lineage commitment may occur earlier in hematopoietic stem and progenitor cells (HSPCs). The relevance to hum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77f85830d56ed22ec311e075d0ca096
https://europepmc.org/articles/PMC5866246/
https://europepmc.org/articles/PMC5866246/