Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Colin A. Sieff"'
Autor:
Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming
Publikováno v:
Haematologica, Vol 103, Iss 12 (2018)
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRN
Externí odkaz:
https://doaj.org/article/70af1a9edca84727a4ddd156e06aba63
Autor:
Yann Ilboudo, Guillaume Lettre, Jeffrey S. Dlott, Manoj Bhasin, Beena E Thomas, Seth L. Alper, Carlo Brugnara, Swati S. Bhasin, Alicia Rivera, Jay Wohlgemuth, Colin A. Sieff, David H. Vandorpe, Boris E. Shmukler, L. Michael Snyder
Publikováno v:
Haematologica. 106:2759-2762
Autor:
Chad Nusbaum, Melisa Ruiz-Gutierrez, Akiko Shimamura, Cailin E. Joyce, Colin A. Sieff, Inga Hofmann, Assieh Saadatpour, Dolly D. Thomas, Jennifer Whangbo, Kasiani C. Myers, Guo-Cheng Yuan, Towia A. Libermann, Özge Vargel Bölükbaşı, Sarah Young, Lan Jiang, Carl D. Novina
Publikováno v:
Journal of Clinical Investigation. 129:3821-3826
Shwachman-Diamond syndrome (SDS) is a rare and clinically heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. Although SDS was described more than 50 years ago, its molecular patho
Autor:
Peter E. Newburger, L. Kate Gowans, David W. Speicher, Desiree Medeiros, Donna A. Wall, Robin D. Hanson, Yelena Maksimova, Colin A. Sieff, Susan J. Baserga, Sara J. Israels, Patrick G. Gallagher, Nupur Mittal, Vincent P. Schulz, Roland Rivera-Santiago, Jennifer A. Rothman, Robert F. Sidonio, Kimberly Lezon-Geyda
Publikováno v:
J Clin Invest
The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds iden
Autor:
Lee Hilliard, Joëlle Rudinger-Thirion, Alexander J. Rennings, Magali Frugier, Richard J. Roodenburg, Lisa G. Riley, Leonor Arenillas, David P. Steensma, Josep Fita-Torró, Elie Bechara, Mark D. Fleming, Sylvia S. Bottomley, Gregory A. Hale, Janet L. Kwiatkowski, Rienk Y. J. Tamminga, Ronghao Zhou, Dean R. Campagna, Joel Kaplan, Miguel R. Abboud, Matthew M. Heeney, Colin A. Sieff, Nicolaas Schaap, Rasha Ahmed, John Christodoulou, Dorine W. Swinkels, Gerwin Huls, Mayka Sanchez, Tjitske Kleefstra, Roula Farah, Annet Simons
Publikováno v:
Haematologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Haematologica, 103(12), 2008-2015. FERRATA STORTI FOUNDATION
Haematologica, 103, 2008-2015
Haematologica, Ferrata Storti Foundation, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Haematologica, 103, 12, pp. 2008-2015
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRN
Autor:
Jason E. Farrar, Anupama Narla, Kelly Walkovich, Helge Hartung, Grzegorz Nalepa, Adrianna Vlachos, Evangelia Atsidaftos, Jeffrey M. Lipton, Mohammad Lutfi Lababidi, Jonathan Bernstein, Ellen Muir, Zora R. Rogers, Thomas W. Loew, Waseem Alhushki, Colin A. Sieff, Bertil Glader, Barbara Gruner, Christine M. Knoll, Arun R Panigrahi
Publikováno v:
Pediatr Blood Cancer
Background Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, short stature, congenital anomalies, and cancer predisposition. Most cases are due to mutations in genes encoding ribosomal proteins (RP) l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f35da0422ca685604b2d6c0cfaafb63
https://europepmc.org/articles/PMC8273758/
https://europepmc.org/articles/PMC8273758/
Autor:
Colin A. Sieff
Publikováno v:
Hematology/Oncology Clinics of North America. 32:569-580
Acquired aplastic anemia and inherited bone marrow failure syndromes both present with pancytopenia and must be distinguished because they have differences in treatment decisions and continued monitoring requirements. Advances in the genetic interrog
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:
Anant Vatsayan, Fedik Rahimov, Waleed Al-Herz, Colin A. Sieff, Mark D. Fleming, Basel K. al-Ramadi, E. Graham Davies, Michel J. Massaad, Martha Sola-Visner, Raif S. Geha, Narayanaswamy Ramesh, Haifa H. Jabara, Nancy C. Andrews, Wayne Bainter, Eli Silver, David Fraulino, Steven E. Boyden, Rand Arnaout, Salem H. Alshemmari, Sanjay P Ahuja, Louis M. Kunkel, Hasan Al-Dhekri, Mohammad Abu-Shukair, Zhi-Jian Liu, Janet Chou, Toshiro K. Ohsumi, Halli Benson, Luigi D. Notarangelo
Publikováno v:
Nature Genetics. 48:74-78
Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internaliz
Autor:
Colin A. Sieff
Publikováno v:
Hematology/oncology clinics of North America. 32(4)