Zobrazeno 1 - 10
of 578
pro vyhledávání: '"E, Prada"'
Autor:
Tiziana Coppola, Hannah Hughes, Paul T. Finch, Joshua A. Hess, Steve Wu, Carlos E. Prada, Alexander G. Miethke, Wenying Zhang, Theodosia A. Kalfa
Publikováno v:
Frontiers in Hematology, Vol 3 (2024)
We present a rare case of erythrocytosis due to a homozygous SLC30A10 mutation, causative of Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis (HMDPC). The patient presented at 7 years of age with the incidental finding of hemoglobin up to
Externí odkaz:
https://doaj.org/article/019536f75d084770ab9ebdf3bd8be156
Autor:
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise un
Externí odkaz:
https://doaj.org/article/35895711cd76476484b7067a5177046a
Autor:
Eliyahu Perl, Padmapriyadarshini Ravisankar, Manu E. Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso, Carina Wenzel, Thomas D. Ryan, Matej Komár, Kevin E. Bove, Calum A. MacRae, K. Nicole Weaver, Carlos E. Prada, Joshua S. Waxman
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100115- (2022)
Summary: Requirements for vesicle fusion within the heart remain poorly understood, despite the multitude of processes that necessitate proper intracellular trafficking within cardiomyocytes. Here, we show that Syntaxin 4 (STX4), a target-Soluble N-e
Externí odkaz:
https://doaj.org/article/69a4013e43b2410292ce66f8fe329a35
Autor:
David Gokhman, Malka Nissim-Rafinia, Lily Agranat-Tamir, Genevieve Housman, Raquel García-Pérez, Esther Lizano, Olivia Cheronet, Swapan Mallick, Maria A. Nieves-Colón, Heng Li, Songül Alpaslan-Roodenberg, Mario Novak, Hongcang Gu, Jason M. Osinski, Manuel Ferrando-Bernal, Pere Gelabert, Iddi Lipende, Deus Mjungu, Ivanela Kondova, Ronald Bontrop, Ottmar Kullmer, Gerhard Weber, Tal Shahar, Mona Dvir-Ginzberg, Marina Faerman, Ellen E. Quillen, Alexander Meissner, Yonatan Lahav, Leonid Kandel, Meir Liebergall, María E. Prada, Julio M. Vidal, Richard M. Gronostajski, Anne C. Stone, Benjamin Yakir, Carles Lalueza-Fox, Ron Pinhasi, David Reich, Tomas Marques-Bonet, Eran Meshorer, Liran Carmel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-21 (2020)
How traits specific to modern humans have evolved is difficult to study. Here, Gokhman et al. compare measured and reconstructed DNA methylation maps of present-day humans, archaic humans and chimpanzees and find that genes that affect vocal tract an
Externí odkaz:
https://doaj.org/article/f72a64784f804644b521ad8a4ae77ab7
Autor:
Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si
Externí odkaz:
https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71
Autor:
Alexander C. Doherty, David A. Huddleston, Paul S. Horn, Nancy Ratner, Brittany N. Simpson, Elizabeth K. Schorry, Lindsey Aschbacher-Smith, Carlos E. Prada, Donald L. Gilbert
Publikováno v:
Pediatric Neurology. 143:34-43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a8fb8cabcb1c663df8d5ca472b3351c
https://doi.org/10.1016/j.pediatrneurol.2023.02.014
https://doi.org/10.1016/j.pediatrneurol.2023.02.014
Autor:
Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100763- (2021)
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluid
Externí odkaz:
https://doaj.org/article/c5df38af4c9146aeb10fddb2dd104490
Autor:
Mary Jo Talley, Diana Nardini, Nisha Shabbir, Lisa A. Ehrman, Carlos E. Prada, Ronald R. Waclaw
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The leucine zipper-like transcriptional regulator 1 (Lztr1) is a BTB-Kelch domain protein involved in RAS/MAPK pathway regulation. Mutations in LZTR1 are associated with cancers and Noonan syndrome, the most common RASopathy. The expression and funct
Externí odkaz:
https://doaj.org/article/0a4872daf0664f08965455ed5f1ca5f6
Publikováno v:
The Journal of Parasitology, 2003 Aug 01. 89(4), 738-743.
Externí odkaz:
https://www.jstor.org/stable/3285870
Publikováno v:
American Journal of Transplantation. 23:673-675
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ab250898516b8eba7b5ab6b4dae484e
https://doi.org/10.1016/j.ajt.2023.02.027
https://doi.org/10.1016/j.ajt.2023.02.027