Zobrazeno 1 - 10
of 6 024
pro vyhledávání: '"Jeffery M."'
Autor:
Prashant N. M., John F. Fullard, Tereza Clarence, Deepika Mathur, Clara Casey, Evelyn Hennigan, Marcela Alvia, Joana Krause-Massaguer, Ayled Barreda, David A. Davis, Regina T. Vontell, Susanna P. Garamszegi, Jeffery M. Vance, Lorelle Sang, Michael Chatigny, David Vismer, Barry Landin, David Burstein, Donghoon Lee, Georgios Voloudakis, Sabina Berretta, Vahram Haroutunian, William K. Scott, Jaroslav Bendl, Panos Roussos
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-9 (2024)
Abstract Parkinson’s Disease (PD) is a debilitating neurodegenerative disorder, characterized by motor and cognitive impairments, that affects >1% of the population over the age of 60. The pathogenesis of PD is complex and remains largely unknown.
Externí odkaz:
https://doaj.org/article/b5a4b7a8fd6b4893a7ad2b40b848ed05
Autor:
Alfonsus Adrian Hadikusumo Harsono, Christyenne Lily Bond, Comfort Enah, Mary Glory Ngong, Rahel Mbah Kyeng, Eric Wallace, Janet M. Turan, Jeffery M. Szychowski, Waldemar A. Carlo, Lionel Neba Ambe, Gregory Halle-Ekane, Pius Tih Muffih, Alan Thevenet N. Tita, Henna Budhwani
Publikováno v:
Reproductive Health, Vol 21, Iss 1, Pp 1-11 (2024)
Abstract Background The maternal mortality and perinatal mortality rate in Cameroon are among the highest worldwide. To improve these outcomes, we conducted a formative qualitative assessment to inform the adaptation of a mobile provider-to-provider
Externí odkaz:
https://doaj.org/article/981ba4c9093e4468b54ba64139bfe1ca
Autor:
Bilcag Akgun, Briseida E. Feliciano-Astacio, Kara L. Hamilton-Nelson, Kyle Scott, Joe Rivero, Larry D. Adams, Jose J. Sanchez, Glenies S. Valladares, Sergio Tejada, Parker L. Bussies, Concepcion Silva-Vergara, Vanessa C. Rodriguez, Pedro R. Mena, Katrina Celis, Patrice G. Whitehead, Michael Prough, Christina Kosanovic, Derek J. Van Booven, Michael A. Schmidt, Heriberto Acosta, Anthony J. Griswold, Clifton L. Dalgard, Katalina F. McInerney, Gary W. Beecham, Michael L. Cuccaro, Jeffery M. Vance, Margaret A. Pericak-Vance, Farid Rajabli
Publikováno v:
Frontiers in Aging Neuroscience, Vol 16 (2024)
IntroductionHispanic/Latino populations are underrepresented in Alzheimer Disease (AD) genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and Amerindian) population is the second-largest Hispanic group in the continental US.
Externí odkaz:
https://doaj.org/article/1326da5961164a938b5b981598862f43
Autor:
Amir Pozner, Li Li, Shiv Prakash Verma, Shuxin Wang, Jared J. Barrott, Mary L. Nelson, Jamie S. E. Yu, Gian Luca Negri, Shane Colborne, Christopher S. Hughes, Ju-Fen Zhu, Sydney L. Lambert, Lara S. Carroll, Kyllie Smith-Fry, Michael G. Stewart, Sarmishta Kannan, Bodrie Jensen, Cini M. John, Saif Sikdar, Hongrui Liu, Ngoc Ha Dang, Jennifer Bourdage, Jinxiu Li, Jeffery M. Vahrenkamp, Katelyn L. Mortenson, John S. Groundland, Rosanna Wustrack, Donna L. Senger, Franz J. Zemp, Douglas J. Mahoney, Jason Gertz, Xiaoyang Zhang, Alexander J. Lazar, Martin Hirst, Gregg B. Morin, Torsten O. Nielsen, Peter S. Shen, Kevin B. Jones
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract The t(X,17) chromosomal translocation, generating the ASPSCR1::TFE3 fusion oncoprotein, is the singular genetic driver of alveolar soft part sarcoma (ASPS) and some Xp11-rearranged renal cell carcinomas (RCCs), frustrating efforts to identif
Externí odkaz:
https://doaj.org/article/22b004d19a254382bdb0a79d65c8bcf2
Autor:
Gisele Nishiguchi, Lauren G. Mascibroda, Sarah M. Young, Elizabeth A. Caine, Sherif Abdelhamed, Jeffrey J. Kooijman, Darcie J. Miller, Sourav Das, Kevin McGowan, Anand Mayasundari, Zhe Shi, Juan M. Barajas, Ryan Hiltenbrand, Anup Aggarwal, Yunchao Chang, Vibhor Mishra, Shilpa Narina, Melvin Thomas, Allister J. Loughran, Ravi Kalathur, Kaiwen Yu, Suiping Zhou, Xusheng Wang, Anthony A. High, Junmin Peng, Shondra M. Pruett-Miller, Danette L. Daniels, Marjeta Urh, Anang A. Shelat, Charles G. Mullighan, Kristin M. Riching, Guido J. R. Zaman, Marcus Fischer, Jeffery M. Klco, Zoran Rankovic
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Molecular-glue degraders are small molecules that induce a specific interaction between an E3 ligase and a target protein, resulting in the target proteolysis. The discovery of molecular glue degraders currently relies mostly on screening ap
Externí odkaz:
https://doaj.org/article/93a742dfa7284effac1e877a18d0d84e
Autor:
Holly N. Cukier, Shaina A. Simon, Eugene Tang, Charles G. Golightly, Mayra Juliana Laverde-Paz, Larry Deon Adams, Takiyah D. Starks, Jeffery M. Vance, Michael L. Cuccaro, Jonathan L. Haines, Goldie S. Byrd, Margaret A. Pericak-Vance, Derek M. Dykxhoorn
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103364- (2024)
The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer’s disease (AD) risk in populations of African, Asian, and European ancestry1-5. Numerous ABCA7 mutations contributing to risk have been identified, inc
Externí odkaz:
https://doaj.org/article/a261ce83f35c4a99bceebaac13a6fffe
Autor:
Simon Smith, Tonia Marquardt, Amy V. Jennison, Andrew D’Addona, James Stewart, Trent Yarwood, Jennifer Ho, Enzo Binotto, Julian Harris, Mark Fahmy, Juliet Esmonde, Megan Richardson, Rikki M.A. Graham, Richard Gair, Lawrence Ariotti, Annie Preston-Thomas, Sally Rubenach, Siobhan O’Sullivan, Darren Allen, Thomas Ragh, Sachjuan Grayson, Sophie Manoy, Jeffery M. Warner, Ella M. Meumann, Jennifer M. Robson, Josh Hanson
Publikováno v:
Emerging Infectious Diseases, Vol 29, Iss 11, Pp 2218-2228 (2023)
Melioidosis, caused by the environmental gram-negative bacterium Burkholderia pseudomallei, usually develops in adults with predisposing conditions and in Australia more commonly occurs during the monsoonal wet season. We report an outbreak of 7 case
Externí odkaz:
https://doaj.org/article/fc49c41053104c88a1ec9ff34011d604
Autor:
Mahsa Khanlari, Lu Wang, Christine Y Bolen, Felipe Sebastian Bautista Otanez, Larissa V. Furtado, Laura Key, Lisa Irwin, Wei Wang, Jeffery M. Klco
Publikováno v:
eJHaem, Vol 4, Iss 3, Pp 765-769 (2023)
Abstract Herein, we present a rare case of acute myeloid leukemia (AML) with CBFA2T3‐rearrangement and the expression of megakaryocytic and lymphoid markers, highlighting the need for a high suspicion index in differential diagnosis and applying ad
Externí odkaz:
https://doaj.org/article/91c613b356e94af3a6b2641c91b5245d
Autor:
Juan M. Barajas, Masayuki Umeda, Lisett Contreras, Mahsa Khanlari, Tamara Westover, Michael P. Walsh, Emily Xiong, Chenchen Yang, Brittney Otero, Marc Arribas-Layton, Sherif Abdelhamed, Guangchun Song, Xiaotu Ma, Melvin E. Thomas 3rd, Jing Ma, Jeffery M. Klco
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Recent genomic studies in adult and pediatric acute myeloid leukemia (AML) demonstrated recurrent in-frame tandem duplications (TD) in exon 13 of upstream binding transcription factor (UBTF). These alterations, which account for ~4.3% of AMLs in chil
Externí odkaz:
https://doaj.org/article/c0412839c08c4746996ccbccb8f2f704
Autor:
Mohammad Eldomery, Patrick Blackburn, Taylor Cain, Victor Pastor Loyola, David Wheeler, Lu Wang, Jeffery M. Klco, Jamie Maciaszek
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100940- (2024)
Externí odkaz:
https://doaj.org/article/aa1ba1b2efd143c0ae61a04aa034733d