Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Víctor Faundes"'
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss suppl 1 (2024)
Abstract Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing advancements in the field of human genetics pose challenges to the relatively slow adapt
Externí odkaz:
https://doaj.org/article/42a9b73ada16485381f030a336f550ca
Autor:
Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corre
Externí odkaz:
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800
Autor:
Lluis Serra-Majem, António Raposo, Javier Aranceta-Bartrina, Gregorio Varela-Moreiras, Caomhan Logue, Hugo Laviada, Susana Socolovsky, Carmen Pérez-Rodrigo, Jorge Antonio Aldrete-Velasco, Eduardo Meneses Sierra, Rebeca López-García, Adriana Ortiz-Andrellucchi, Carmen Gómez-Candela, Rodrigo Abreu, Erick Alexanderson, Rolando Joel Álvarez-Álvarez, Ana Luisa Álvarez Falcón, Arturo Anadón, France Bellisle, Ina Alejandra Beristain-Navarrete, Raquel Blasco Redondo, Tommaso Bochicchio, José Camolas, Fernando G. Cardini, Márcio Carocho, Maria do Céu Costa, Adam Drewnowski, Samuel Durán, Víctor Faundes, Roxana Fernández-Condori, Pedro P. García-Luna, Juan Carlos Garnica, Marcela González-Gross, Carlo La Vecchia, Rosaura Leis, Ana María López-Sobaler, Miguel Agustín Madero, Ascensión Marcos, Luis Alfonso Mariscal Ramírez, Danika M. Martyn, Lorenza Mistura, Rafael Moreno Rojas, José Manuel Moreno Villares, José Antonio Niño-Cruz, María Beatriz P. P. Oliveira, Nieves Palacios Gil-Antuñano, Lucía Pérez-Castells, Lourdes Ribas-Barba, Rodolfo Rincón Pedrero, Pilar Riobó, Juan Rivera Medina, Catarina Tinoco de Faria, Roxana Valdés-Ramos, Elsa Vasco, Sandra N. Wac, Guillermo Wakida, Carmina Wanden-Berghe, Luis Xóchihua Díaz, Sergio Zúñiga-Guajardo, Vasiliki Pyrogianni, Sérgio Cunha Velho de Sousa
Publikováno v:
Nutrients, Vol 10, Iss 7, p 818 (2018)
International scientific experts in food, nutrition, dietetics, endocrinology, physical activity, paediatrics, nursing, toxicology and public health met in Lisbon on 2–4 July 2017 to develop a Consensus on the use of low- and no-calorie sweeteners
Externí odkaz:
https://doaj.org/article/33a8a647ee1e4738aea412b3558459c2
Publikováno v:
Biological Research, Vol 41, Iss 4, Pp 379-387 (2008)
Working memory (WM) designates the retention of objects or events in conscious awareness when these are not present in the environment. Many studies have focused on the interference properties of distracter stimuli in working memory, but these studie
Externí odkaz:
https://doaj.org/article/5f824d372dc64dd696f5a5086710e35a
Autor:
José Miguel Cárdenas, Diane Vergara, Scarlet Witting, Fernanda Balut, Patricio Guerra, José Tomás Mesa, Sebastián Silva, Javiera Tello, Alvaro Retamales, Andrés Barrios, Fernando Pinto, Víctor Faundes, Mónica Troncoso
Publikováno v:
Molecular Syndromology. :1-12
Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and
Autor:
Víctor Faundes
Publikováno v:
Journal of Medicinal Food.
Autor:
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand, Dennis Witt, Peter D. Turnpenny, Víctor Faundes, Lorena Santa María, Carolina Mendoza Fuentes, Paulina Mabe, Shaun A. Hussain, Sureni V. Mullegama, Erin Torti, Barbara Oehl-Jaschkowitz, Lina Basel Salmon, Naama Orenstein, Noa Ruhrman Shahar, Ofir Hagari, Lily Bazak, Sabine Hoffjan, Carlos E. Prada, Tobias Haack, David J. Elliott
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work was to associate germline variants in the TRA2B gene to a nov
Autor:
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active-unmethylated alleles has prognostic uti
Autor:
Felipe Peñaloza, Felipe Falcon, Juan Francisco Cabello, Alicia de la Parra, María Florencia Salazar, Diana Ruffato, Carolina Arias, Verónica Cornejo, Gabriela Castro, Víctor Faundes, María Fernanda Medina
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:373-380
Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subu
Autor:
Karen Stals, Sara Cuvertino, Víctor Faundes, Frances Flinter, Lihadh Al-Gazali, Santina Venuto, Vagheesh M. Narasimhan, Laura Southgate, Colin A. Johnson, Eamonn Sheridan, Nisha Nair, Anne Barton, Alice Colyer, Susan J. Kimber, Brian R. Jackson, Adam Stevens, Daniel Weisberg, Natalie Canham, Giuseppe Merla, Gabriella Maria Squeo, Richard C. Trembath, Sally Ann Lynch, Fatima Nadat, Terence Garner, Robert Sellers, Sian Ellard, Muriel Holder-Espinasse, David A. van Heel, Michelle Peckham, Francesca Montanari, Siddharth Banka, Verity L. Hartill, Marco Seri, Jozef Hertecant
Publikováno v:
Cuvertino, S, Garner, T, Nair, N, Faundes Gomez, V, Sellers, R, Barton, A, Kimber, S, Banka, S & et al. 2020, ' A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0743-3
Genetics in Medicine
Genetics in Medicine
Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of