Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Hugh Young Rienhoff"'
1
Akademický článek
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
Autor: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, Hamish S. Scott
Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. Methods We performed who
Externí odkaz: https://doaj.org/article/c6216fddb0d34c3da737937059041417
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2
Akademický článek
Antimalarial iron chelator, FBS0701, shows asexual and gametocyte Plasmodium falciparum activity and single oral dose cure in a murine malaria model.
Autor: Patricia Ferrer, Abhai K Tripathi, Martha A Clark, Carla Cerami Hand, Hugh Young Rienhoff, David J Sullivan
Publikováno v: PLoS ONE, Vol 7, Iss 5, p e37171 (2012)
Iron chelators for the treatment of malaria have proven therapeutic activity in vitro and in vivo in both humans and mice, but their clinical use is limited by the unsuitable absorption and pharmacokinetic properties of the few available iron chelato
Externí odkaz: https://doaj.org/article/14d823b1c85a424fb5a84c073bf0d37d
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3
Akademický článek
A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload
Autor: Hugh Young Rienhoff, Vip Viprakasit, Lay Tay, Paul Harmatz, Elliott Vichinsky, Deborah Chirnomas, Janet L. Kwiatkowski, Amy Tapper, William Kramer, John B. Porter, Ellis J. Neufeld
Publikováno v: Haematologica, Vol 96, Iss 4 (2011)
Background There is still a clinical need for a well-tolerated and safe iron chelator for the treatment of transfusional iron overload. We describe the pharmacokinetic properties and safety data after 7 days of dosing of FBS0701, a novel oral, once-d
Externí odkaz: https://doaj.org/article/b1c11b6cc2594503b7938868a659bd08
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7
Somatic mutational landscape of hereditary hematopoietic malignancies associated with germline variants in RUNX1, GATA2 and DDX41
Autor: Anna L. Brown, Claire Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew Pozsgai, Kelsey McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah King-Smith, Jesse JC Cheah, Mark Armstrong, Csaba Bödör, Paul Wang, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul P. Liu, Lucy A. Godley
Germline variants in RUNX1, GATA2 and DDX41 may confer a predisposition to hereditary haematopoietic malignancies (HHMs) such as MDS and AML yet have distinct age ranges of malignancy diagnosis and a highly variable overall risk for leukemogenesis. T
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a20f1d2adfa0dcd6854f8f7a941739a
https://hdl.handle.net/11541.2/33177
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8
A break from the bench
Autor: Bruce M. Hood, Ming-Wei Wang, Neil H. Shubin, Michael E. Brown, Jonathan L. Zittrain, Adam Kepecs, Carl Zimmer, David Poeppel, Susan Solomon, Jerry A. Coyne, Sandra Knapp, Eugenie C. Scott, Felice Frankel, Hugh Young Rienhoff
Publikováno v: Nature. 460:574-577
Nature regulars give their recommendations for relaxed, inspiring holiday reading and viewing — from climate-change history to Isaac Newton the detective.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::16a3feab803e9d6a66b7f8475f3d1e5c
https://doi.org/10.1038/460574a
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9
Cardiac R2* values are independent of the image analysis approach employed
Autor: Antonella, Meloni, Hugh Young, Rienhoff, Amber, Jones, Alessia, Pepe, Massimo, Lombardi, John C, Wood
Publikováno v: Magnetic resonance in medicine. 72(2)
To determine whether systematic differences were present between myocardial R2* values obtained with two different decay models: truncation and exponential + constant (Exp-C).Single-center cohorts were used to compare black and bright blood sequences
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::356bc8f9a13f036a22f251d0d52fac67
https://pubmed.ncbi.nlm.nih.gov/24123261
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10
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome
Autor: Irina Khrebtukova, Gary P. Schroth, Nazli B. McDonnell, Malcolm Whitman, Chang Yeol Yeo, Hugh Young Rienhoff, Nan Leng, Judith G. Hall, John Westwick, Yeon Jin Kim, Rachel Morissette, Jonathan S. Melnick, Shujun Luo, Hannes Vogel
Publikováno v: American Journal of Medical Genetics. Part a
The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b1fb991909c9e73068b41011ed6a89
https://pubmed.ncbi.nlm.nih.gov/24817670
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