Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Amalia Dutra"'
Autor:
Sevilla D. Detera-Wadleigh, Layla Kassem, Emily Besancon, Fabiana Lopes, Nirmala Akula, Heejong Sung, Meghan Blattner, Laura Sheridan, Ley Nadine Lacbawan, Joshua Garcia, Francis Gordovez, Katherine Hosey, Cassandra Donner, Claudio Salvini, Thomas Schulze, David T. W. Chen, Bryce England, Joanna Cross, Xueying Jiang, Winston Corona, Jill Russ, Barbara Mallon, Amalia Dutra, Evgenia Pak, Joe Steiner, Nasir Malik, Theresa de Guzman, Natia Horato, Mariana B. Mallmann, Victoria Mendes, Amanda L. Dűck, Antonio E. Nardi, Francis J. McMahon
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ), but biological character
Externí odkaz:
https://doaj.org/article/fbb9f6f256a54082854ba103067d0d46
Autor:
Ashley T. Sendell-Price, Frank J. Tulenko, Mats Pettersson, Du Kang, Margo Montandon, Sylke Winkler, Kathleen Kulb, Gavin P. Naylor, Adam Phillippy, Olivier Fedrigo, Jacquelyn Mountcastle, Jennifer R. Balacco, Amalia Dutra, Rebecca E. Dale, Bettina Haase, Erich D. Jarvis, Gene Myers, Shawn M. Burgess, Peter D. Currie, Leif Andersson, Manfred Schartl
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Sharks occupy diverse ecological niches and play critical roles in marine ecosystems, often acting as apex predators. They are considered a slow-evolving lineage and have been suggested to exhibit exceptionally low cancer rates. These two fe
Externí odkaz:
https://doaj.org/article/697d70ec965d44079d0c1fc4031212cc
Autor:
Adrianna K. San Roman, Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi Teitz, Isani Singh, Laura V. Blanton, Daniel W. Bellott, Tatyana Pyntikova, Julian Lange, Natalia Koutseva, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Angela E. Lin, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100462- (2024)
Summary: Somatic cells of human males and females have 45 chromosomes in common, including the “active” X chromosome. In males the 46th chromosome is a Y; in females it is an “inactive” X (Xi). Through linear modeling of autosomal gene expres
Externí odkaz:
https://doaj.org/article/f7bcee4c14104a018d0e1ee125035ddd
Autor:
Adrianna K. San Roman, Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris, Laura V. Blanton, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100259- (2023)
Summary: The “inactive” X chromosome (Xi) has been assumed to have little impact, in trans, on the “active” X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling re
Externí odkaz:
https://doaj.org/article/a25725f53e0c4b88aad1b61692c510c9
Autor:
Jenny Serra-Vinardell, Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy Introne, William A. Gahl, May Christine Malicdan
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101883- (2020)
Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, ble
Externí odkaz:
https://doaj.org/article/980d312ffa724a038d2f8fd8f3adc45d
Autor:
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky
Publikováno v:
Disease Models & Mechanisms, Vol 9, Iss 7, Pp 769-778 (2016)
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glu
Externí odkaz:
https://doaj.org/article/f7b3e5e990b84865ae7b2fc4d4fb9cb0
Autor:
Sawa Ito, A. John Barrett, Amalia Dutra, Evgenia Pak, Samantha Miner, Keyvan Keyvanfar, Nancy F. Hensel, Katayoun Rezvani, Pawel Muranski, Paul Liu, J. Joseph Melenhorst, Andre Larochelle
Publikováno v:
Stem Cell Research, Vol 14, Iss 1, Pp 95-104 (2015)
Mesenchymal stromal cells (MSCs) support the growth and differentiation of normal hematopoietic stem cells (HSCs). Here we studied the ability of MSCs to support the growth and survival of leukemic stem cells (LSCs) in vitro. Primary leukemic blasts
Externí odkaz:
https://doaj.org/article/def87c91c76d46f59ddf32fc482ed402
Autor:
Katherine R. Calvo, Donald C. Vinh, Irina Maric, Weixin Wang, Pierre Noel, Maryalice Stetler-Stevenson, Diane C. Arthur, Mark Raffeld, Amalia Dutra, Evgenia Pak, Kyungjae Myung, Amy P. Hsu, Dennis D. Hickstein, Stefania Pittaluga, Steven M. Holland
Publikováno v:
Haematologica, Vol 96, Iss 8 (2011)
A novel, genetic immunodeficiency syndrome has been recently described, herein termed “MonoMAC”. It is characterized by severe circulating monocytopenia, NK- and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progre
Externí odkaz:
https://doaj.org/article/355eb7e76b084cc0a550b32607fa7142
Autor:
Amalia Dutra, Hunter G. Larson, John Svaren, James Inglese, Ganesha Rai, Bryan Queme, John J. Moran, John C. Braisted, Evgenia Pak, Natalia J. Martinez, Patricia Dranchak, Ken Chih-Chien Cheng
Publikováno v:
ACS Pharmacol Transl Sci
[Image: see text] Charcot-Marie-Tooth 1A (CMT1A) is the most common form of hereditary peripheral neuropathies, characterized by genetic duplication of the critical myelin gene Peripheral Myelin Protein 22 (PMP22). PMP22 overexpression results in abn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5afdad578480951c2ce0fe36d0bda0
https://europepmc.org/articles/PMC8369676/
https://europepmc.org/articles/PMC8369676/
Autor:
David Porubsky, Gulhan Kaya, Ruta Sahasrabudhe, James C. Mullikin, Joel Armstrong, Amy B. Wilfert, Jonathan Wood, Edmund Howe, Ariel Gershman, Amalia Dutra, Jon Matthew Belton, Alexander M. Chang, Karen H. Miga, Valerie A. Schneider, Adam M. Phillippy, Alice Young, Andrey Bzikadze, Tamara A. Potapova, Rosa Ana Risques, Anthony D. Schmitt, Tina A. Graves Lindsay, Gerard G. Bouffard, Nancy F. Hansen, Benedict Paten, Josh Quick, Ira M. Hall, Glennis A. Logsdon, Sergey Koren, Kristof Tigyi, Nadine Holmes, Daniela C. Soto, Beth A. Sullivan, Jeanne Fredrickson, Robert S. Fulton, Siddarth Selvaraj, Milinn Kremitzki, Winston Timp, Nicholas J. Loman, Arang Rhie, Evan E. Eichler, Megan Y. Dennis, Kerstin Howe, Jennifer L. Gerton, Urvashi Surti, Valerie Maduro, Christopher Markovic, Pavel A. Pevzner, Françoise Thibaud-Nissen, William Chow, Shelise Brooks, Evgenia Pak, Matthew Loose, Mitchell R. Vollger
Publikováno v:
Nature, vol 585, iss 7823
Nature
Nature
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist1,2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b763e6dc69f68a2c414f6d2d8a9e4a86
https://escholarship.org/uc/item/88w7j3n7
https://escholarship.org/uc/item/88w7j3n7