Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Autor: María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)

FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.

Externí odkaz: https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

Autor: Eva Manuela Pena-Burgos, Rita María Regojo, Miguel Sáenz de Pipaón, Fernando Santos-Simarro, Pedro Ruiz-Sala, Belén Pérez, María Isabel Esteban-Rodríguez

Publikováno v: Pediatric and Developmental Pathology. 26:138-143

Short-chain enoyl-CoA hydratase 1 (ECHS1) is an enzyme that participates in the metabolism of valine, transforming methacrylyl-CoA in β–hydroxy–isobutyryl-CoA. There is an accumulation of intermediate acids and ammonium as a consequence of its d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5310d90732bbd570176ba1a177324eb4
https://doi.org/10.1177/10935266221134650

Estudio retrospectivo descriptivo sobre el tumor carcinoide pulmonar: experiencia de un centro español de tercer nivel

Autor: María Isabel Esteban, Javier de Castro, Darío Sánchez Cabrero, Patricia Cruz Castellanos

Publikováno v: Revista Española de Patología. 54:85-91

Resumen Introduccion Los carcinoides pulmonares son un tipo de cancer relativamente infrecuente, representando unicamente un 1-2% de las neoplasias toracicas, encuadrandose dentro de las neoplasias neuroendocrinas. En nuestro trabajo, pretendemos exp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52fb092b9b3540b3f42dae3999603e7f
https://doi.org/10.1016/j.patol.2020.04.004

Manejo clínico y terapéutico de un tumor fibroso pleural con translocación de ALK

Autor: Alberto Peláez, Julia Villamayor, Patricia Cruz-Castellanos, María Isabel Esteban, L Gutierrez-Sainz, Francisco J de Castro

Publikováno v: Cirugía y Cirujanos, Vol 89, Iss 91 (2021)

Presentamos un caso clínico de un tumor fibroso solitario pleural (TFSP) de comportamiento anómalo por su alta agresividad y mal pronóstico a corto plazo, en el que se identificó una translocación de ALK. El TFSP es un tumor infrecuente, con una

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2debac0836eaef1bb423e1b1ee51874
https://www.cirugiaycirujanos.com/frame_esp.php?id=568

Contents, Vol. 112, 1997

Autor: María Isabel Esteban, Vincenzo Izzo, Luis Caraballo, Masatsugu Kurokawa, Akemi Morita, Tadao Kasahara, Mina Ike, Miki Nyui, Dilia Mercado, Qunwei Zhang, Tamás Gesztesi, Silvia Jiménez, Takako Matsuoka, Takako Oshiro, Thomas Baumruker, Masayuki Ando, A. Eshel, Asil Avjiouglu, Yukinori Kusaka, Y. Waisel, Yasunori Kakuta, Yasuharu Nishimura, Kazuhiro Sato, Pilar García-Ortega, Hideo Kikkawa, Borja Bartolomé, Paolo Colombo, Kana Ueno, Giovanni Locorotondo, Katsuo Ikezawa, B. Grubeck-Loebenstein, Tadashi Ariga, Shigeki Matsubara, Robert N. Pike, Nikolaus Romani, Manfred Auer, Z. Bodnár, Leonardo Puerta, James Travis, Toshiaki Fushimi, Maria Assunta Costa, Ichiro Kobayashi, Laureano Fernández-Távora, Nobuaki Kawamura, Rossana Porcasi, Sho Matsushita, Hiroshi Okayama, E. Kosman, Roberta Cocchiara, M.M. Steger, Hirotsugu Kohrogi, M. Raulf-Heimsoth, Gunther G. Pendl, Nathalie E. Harrer, Alberto Martínez, Ilona Kaszás, Kenta Kawazu, Werner Thumb, Mitsuru Adachi, Beatrice Thurner, Eva E. Prieschl, Giovanni Duro, Fujio Asanuma, Ricardo Palacios, Nobuhiro Maruyama, Montserrat de Molina, Renata Di Fiore, Dennis A. Bagarozzi, Gen Tamura, Atsushi Tame, M. Saurwein-Teissl, Akinori Arimura, Y. Yanagihara, M. Düser, Yukio Sakiyama, Sanae Shimura, Motohiko Okano, Osamu Kaminuma, János M. Jákó, Jorge Martínez, Beatriz Martínez, Hirofumi Furuta, C. Maczek, A. Flagge, Javier Fernández, David G. Marsh, Ken Tomita, Gerold Schuler, Domenico Geraci, Shin-ichi Konno, Yoshiki Gonokami, Kunio Shirato, Angel Vallverdú, A.B. Czuppon, Kiyoshi Yasui, X. Baur, Yoko Furue, I. Sander

Publikováno v: International Archives of Allergy and Immunology. 112:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3328f8fa09c83ec4db4d5c4e1a94570e
https://doi.org/10.1159/000237473