Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Juan Jesús Vílchez"'
Autor:
Francisco Diez-Fuertes, María Rosa López-Huertas, Javier García-Pérez, Esther Calonge, Mercedes Bermejo, Elena Mateos, Pilar Martí, Nuria Muelas, Juan Jesús Vílchez, Mayte Coiras, José Alcamí, Sara Rodríguez-Mora
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
LGMDD2 is a rare form of muscular dystrophy characterized by one of the three heterozygous deletions described within the TNPO3 gene that result in the addition of a 15-amino acid tail in the C-terminus.TNPO3 is involved in the nuclear import of spli
Externí odkaz:
https://doaj.org/article/b6cfae74377e48638cc2f2eb1e1e4206
Autor:
Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Abstract Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicent
Externí odkaz:
https://doaj.org/article/0faa7f5c1e624b5b885d1c7b72e34039
Autor:
Sara Rodríguez-Mora, Flore De Wit, Javier García-Perez, Mercedes Bermejo, María Rosa López-Huertas, Elena Mateos, Pilar Martí, Susana Rocha, Lorena Vigón, Frauke Christ, Zeger Debyser, Juan Jesús Vílchez, Mayte Coiras, José Alcamí
Publikováno v:
PLoS Pathogens, Vol 15, Iss 8, p e1007958 (2019)
The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the nuclear import factor Transportin 3 gene (TNPO3). This mutation causes a carboxy-terminal extens
Externí odkaz:
https://doaj.org/article/4e773c58f83a4eb5b4da09a63b2f9f9d
Autor:
Vincenzo, Lupo, Marina, Frasquet, Ana, Sánchez-Monteagudo, Ana Lara, Pelayo-Negro, Tania, García-Sobrino, María José, Sedano, Julio, Pardo, Mercedes, Misiego, Jorge, García-García, María Jesús, Sobrido, María Dolores, Martínez-Rubio, María José, Chumillas, Juan Jesús, Vílchez, Juan Francisco, Vázquez-Costa, Carmen, Espinós, Teresa, Sevilla
Publikováno v:
Journal of medical genetics. 55(12)
Mutations in the metalloendopeptidase (We screened 197 index cases with a hereditary neuropathy of the CMT type or distal hereditary motor neuropathy (dHMN) and 10 probands with familial amyotrophic lateral sclerosis (fALS) using a custom panel of 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::955612d2560e90c082032814e1ac1df8
https://pubmed.ncbi.nlm.nih.gov/30415211
https://pubmed.ncbi.nlm.nih.gov/30415211
Autor:
Javier Poyatos-García, Águeda Blázquez-Bernal, Marta Selva-Giménez, Ariadna Bargiela, Jorge Espinosa-Espinosa, Rafael P. Vázquez-Manrique, Anne Bigot, Ruben Artero, Juan Jesús Vilchez
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 324-338 (2023)
A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1 (HIV-1) infection, causes the ultrarare autosomal dominant disease limb-girdle muscular dystroph
Externí odkaz:
https://doaj.org/article/9a5a3e8ee08b4db28d543fbdc27b55f7
Autor:
Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies t
Externí odkaz:
https://doaj.org/article/59ff4fd339fd4cbaa9a588a2470f9192
Autor:
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses
Externí odkaz:
https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90
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