Zobrazeno 1 - 10
of 587
pro vyhledávání: '"Timothy A Olson"'
Autor:
Matthew P. Connor, Neeharika Prathapa, Noelle V. Frey, Saar I. Gill, Elizabeth O. Hexner, Ximena Jordan Bruno, Catherine E. Lai, Alison W. Loren, Selina M. Luger, Andrew H. Matthews, Shannon R. McCurdy, Alexander E Perl, David L. Porter, Arlene Zeringue, Joseph H. Oved, Timothy S. Olson, Keith W. Pratz, Daria V. Babushok
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Not available.
Externí odkaz:
https://doaj.org/article/d008abed804247ba80e253a0d5516959
Autor:
Joseph H. Oved, Nora M. Gibson, Kimberly Venella, Caitlin W. Elgarten, Lisa Wray, Julia T. Warren, Timothy S. Olson
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Severe congenital neutropenia (SCN) is caused by germline mutations, most commonly in ELANE, impacting neutrophil maturation and leading to high risk of life-threatening infections. Most patients with ELANE-mutant SCN can achieve safe neutrophil coun
Externí odkaz:
https://doaj.org/article/6513bb6fcbd54929b6b72109d32eeff5
Autor:
Katja Birker, Shuchao Ge, Natalie J Kirkland, Jeanne L Theis, James Marchant, Zachary C Fogarty, Maria A Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J Engler, Karen Ocorr, Timothy J Nelson, Alexandre R Colas, Timothy M Olson, Georg Vogler, Rolf Bodmer
Publikováno v:
eLife, Vol 12 (2023)
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole genome seq
Externí odkaz:
https://doaj.org/article/295c6b7f92104c7bb7e08f101b5ff3af
Autor:
Tamiel N. Turley, Jeanne L. Theis, Jared M. Evans, Zachary C. Fogarty, Rajiv Gulati, Sharonne N. Hayes, Marysia S. Tweet, Timothy M. Olson
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 10, Iss 9, p 393 (2023)
Rare familial spontaneous coronary artery dissection (SCAD) kindreds implicate genetic disease predisposition and provide a unique opportunity for candidate gene discovery. Whole-genome sequencing was performed in fifteen probands with non-syndromic
Externí odkaz:
https://doaj.org/article/860fe545623943b0a75171fe31cb1411
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities
Autor:
Timothy S. Olson, Benjamin F. Frost, Jamie L. Duke, Marian Dribus, Hongbo M. Xie, Zachary D. Prudowsky, Elissa Furutani, Jonas Gudera, Yash B. Shah, Deborah Ferriola, Amalia Dinou, Ioanna Pagkrati, Soyoung Kim, Yixi Xu, Meilun He, Shannon Zheng, Sally Nijim, Ping Lin, Chong Xu, Taizo A. Nakano, Joseph H. Oved, Beatriz M. Carreno, Yung-Tsi Bolon, Shahinaz M. Gadalla, Steven G.E. Marsh, Sophie Paczesny, Stephanie J. Lee, Dimitrios S. Monos, Akiko Shimamura, Alison A. Bertuch, Loren Gragert, Stephen R. Spellman, Daria V. Babushok
Publikováno v:
JCI Insight, Vol 7, Iss 22 (2022)
Acquired aplastic anemia (AA) is caused by autoreactive T cell–mediated destruction of early hematopoietic cells. Somatic loss of human leukocyte antigen (HLA) class I alleles was identified as a mechanism of immune escape in surviving hematopoieti
Externí odkaz:
https://doaj.org/article/d1c7bc07cfdf4986bc137dedb34e3f11
Autor:
Brian M. Dulmovits, Timothy S. Olson
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 15 (2022)
Current paradigms of bone marrow failure (BMF) pathophysiology suggest that immune-mediated destruction of hematopoietic stem and progenitor cells (HSPCs) drives acquired aplastic anemia. In contrast, loss of HSPCs due to senescence and/or apoptosis
Externí odkaz:
https://doaj.org/article/9162d73c02dc44aea31f41234b9e4b35
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundCongenital amegakaryocytic thrombocytopenia (CAMT) is a rare platelet production disorder caused mainly by loss of function biallelic mutations in myeloproliferative leukemia virus oncogene (MPL), the gene encoding the thrombopoietin recept
Externí odkaz:
https://doaj.org/article/3d3d45b40fa948cb84d6402527339440
Autor:
Robert B. Lindell, Michael S. Wolf, Alicia M. Alcamo, Michael A. Silverman, Daniel E. Dulek, William R. Otto, Timothy S. Olson, Carrie L. Kitko, Paisit Paueksakon, Kathleen Chiotos
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Disseminated toxoplasmosis is an uncommon but highly lethal cause of hyperferritinemic sepsis after hematopoietic cell transplantation (HCT). We report two cases of disseminated toxoplasmosis from two centers in critically ill adolescents after HCT:
Externí odkaz:
https://doaj.org/article/1883a5fd947543119afbc4a44dc2ac0c
Autor:
Jeanne L. Theis, Timothy M. Olson
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 4, p 117 (2022)
Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants and small insertions/deletions, within both coding and regulatory regions of the genome, re
Externí odkaz:
https://doaj.org/article/26a54651c0f44795a81f26220957a3b1
Autor:
Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer
Publikováno v:
eLife, Vol 9 (2020)
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-g
Externí odkaz:
https://doaj.org/article/7b02a3ed48a047c4bd8549ffe623c1c1