Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Noemi, Vidal"'
Autor:
Sara L. Cook, Christian Stout, Lindsey Kirkeby, Noemi Vidal-Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel Anderson, Nathan P. Staff
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other. The pathogen
Externí odkaz:
https://doaj.org/article/3774c76d9a0d4d369a9106ee899bec86
Akademický článek
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Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100491- (2023)
Externí odkaz:
https://doaj.org/article/a639a7cff8334357a2f7207daed05139
Autor:
Daniel Gutiérrez-Martín, Montse Marquès, Albert Pons-Escoda, Noemi Vidal, Jordi Bruna, Esteban Restrepo-Montes, Rebeca López-Serna, Francisco García-Sayago, Carles Majos, Pablo Gago-Ferrero, Rubén Gil-Solsona
Publikováno v:
MethodsX, Vol 10, Iss , Pp 102069- (2023)
Little is known about the presence of organic pollutants in human brain (and even less in brain tumors). In this regard, it is necessary to develop new analytical protocols capable of identifying a wide range of exogenous chemicals in this type of sa
Externí odkaz:
https://doaj.org/article/98c6944c36264a01a96f16ca5ced7b6b
Autor:
Jaime Lopes, Noemi Vidal‐Folch, Patrick Lundquist, Lisa A. Schimmenti, Nadir Demirel, Vicki Dean, Janelle Olson, Tom Auth, Malinda Butz, Katelyn Reed, Mark Wylam, Jessica Balcom, Nicole J. Boczek, Linda Hasadsri
Publikováno v:
Pediatric Pulmonology. 58:819-824
MT-RNR1 variants are a well-known cause of aminoglycoside-induced hearing loss (AIHL). Individuals with cystic fibrosis (CF) routinely receive aminoglycosides and are at high risk of AIHL. However, genetic testing before treatment is not routinely pe
Autor:
Teun M. Klein Gunnewiek, Eline J.H. Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M. Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J. Nelson, Eva Morava, Nael Nadif Kasri, Tamas Kozicz
Publikováno v:
Cell Reports, Vol 31, Iss 3, Pp - (2020)
Summary: Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How mitochondrial dysfunction affects neural structure and function remains elusive, mostly
Externí odkaz:
https://doaj.org/article/db72172982f844a182028f325789bcff
Autor:
Diego Daniel Miceli, Patricia Noemi Vidal, María Fernanda Cabrera Batter, Omar Pignataro, Victor Alejandro Castillo
Publikováno v:
Open Veterinary Journal, Vol 8, Iss 2, Pp 193-199 (2018)
Hypercortisolism induces a state of insulin resistance that can occur concurrently with fasting hyperglycaemia, dyslipidaemia and diabetes mellitus. Metformin reduces hepatic glucose production and insulin resistance of the skeletal muscle and adipos
Externí odkaz:
https://doaj.org/article/1b5e6c9a829d4a66879de77adff53d6e
Autor:
Diego Daniel Miceli, Adriana María Belén Abiuso, Patricia Noemi Vidal, María Florencia Gallelli, Omar Pedro Pignataro, Victor Alejandro Castillo
Publikováno v:
Open Veterinary Journal, Vol 8, Iss 1, Pp 77-85 (2018)
11β-Hydroxysteroid dehydrogenase 1 (11β-HSD1) is an enzyme that activates cortisone into cortisol in tissues. Alterations in this enzyme are related to the development of metabolic syndrome, obesity and hyperadrenocorticism (HAC). Endothelial nitri
Externí odkaz:
https://doaj.org/article/9312aadeb2e64e408d0a5ce025873390
Gossypol Treatment Restores Insufficient Apoptotic Function of DFF40/CAD in Human Glioblastoma Cells
Autor:
Laura Martínez-Escardó, Montse Alemany, María Sánchez-Osuna, Alejandro Sánchez-Chardi, Meritxell Roig-Martínez, Salvio Suárez-García, Daniel Ruiz-Molina, Noemi Vidal, Gerard Plans, Carles Majós, Judit Ribas, María Antonia Baltrons, Jose R. Bayascas, Carlos Barcia, Jordi Bruna, Victor J. Yuste
Publikováno v:
Cancers, Vol 13, Iss 21, p 5579 (2021)
Glioblastoma (GBM) is a highly aggressive brain tumor and almost all patients die because of relapses. GBM-derived cells undergo cell death without nuclear fragmentation upon treatment with different apoptotic agents. Nuclear dismantling determines t
Externí odkaz:
https://doaj.org/article/6413408650f8453789322c010a859186
Autor:
Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Tanya L Schwab, Krutika Gaonkar, Margot A Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W Klee
Publikováno v:
PLoS ONE, Vol 14, Iss 10, p e0223337 (2019)
BackgroundRNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. Recent studies have reported diagnostic improvements in the range of 7.5-35% by profiling splicing, gene expression
Externí odkaz:
https://doaj.org/article/6c7e2699270f4cb5b151c5c23ddbbbcc