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1.

Mechanobiology of YAP and TAZ in physiology and disease.

Panciera, Tito; Azzolin, Luca; Cordenonsi, Michelangelo; Piccolo, Stefano.

Nat Rev Mol Cell Biol; 18(12): 758-770, 2017 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-28951564

2.

A special population of regulatory T cells potentiates muscle repair.

Burzyn, Dalia; Kuswanto, Wilson; Kolodin, Dmitriy; Shadrach, Jennifer L; Cerletti, Massimiliano; Jang, Young; Sefik, Esen; Tan, Tze Guan; Wagers, Amy J; Benoist, Christophe; Mathis, Diane.

Cell; 155(6): 1282-95, 2013 Dec 05.

Artículo en Inglés | MEDLINE | ID: mdl-24315098

3.

A zebrafish embryo culture system defines factors that promote vertebrate myogenesis across species.

Xu, Cong; Tabebordbar, Mohammadsharif; Iovino, Salvatore; Ciarlo, Christie; Liu, Jingxia; Castiglioni, Alessandra; Price, Emily; Liu, Min; Barton, Elisabeth R; Kahn, C Ronald; Wagers, Amy J; Zon, Leonard I.

Cell; 155(4): 909-921, 2013 Nov 07.

Artículo en Inglés | MEDLINE | ID: mdl-24209627

4.

Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.

Buljan, Marija; Ciuffa, Rodolfo; van Drogen, Audrey; Vichalkovski, Anton; Mehnert, Martin; Rosenberger, George; Lee, Sohyon; Varjosalo, Markku; Pernas, Lucia Espona; Spegg, Vincent; Snijder, Berend; Aebersold, Ruedi; Gstaiger, Matthias.

Mol Cell; 79(3): 504-520.e9, 2020 08 06.

Artículo en Inglés | MEDLINE | ID: mdl-32707033

5.

Splice modulating therapies for human disease.

Spitali, Pietro; Aartsma-Rus, Annemieke.

Cell; 148(6): 1085-8, 2012 Mar 16.

Artículo en Inglés | MEDLINE | ID: mdl-22424220

6.

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Kume, Kodai; Kurashige, Takashi; Muguruma, Keiko; Morino, Hiroyuki; Tada, Yui; Kikumoto, Mai; Miyamoto, Tatsuo; Akutsu, Silvia Natsuko; Matsuda, Yukiko; Matsuura, Shinya; Nakamori, Masahiro; Nishiyama, Ayumi; Izumi, Rumiko; Niihori, Tetsuya; Ogasawara, Masashi; Eura, Nobuyuki; Kato, Tamaki; Yokomura, Mamoru; Nakayama, Yoshiaki; Ito, Hidefumi; Nakamura, Masataka; Saito, Kayoko; Riku, Yuichi; Iwasaki, Yasushi; Maruyama, Hirofumi; Aoki, Yoko; Nishino, Ichizo; Izumi, Yuishin; Aoki, Masashi; Kawakami, Hideshi.

Am J Hum Genet; 110(7): 1086-1097, 2023 07 06.

Artículo en Inglés | MEDLINE | ID: mdl-37339631

7.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W.

Am J Hum Genet; 110(6): 989-997, 2023 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-37167966

8.

Myoediting: Toward Prevention of Muscular Dystrophy by Therapeutic Genome Editing.

Zhang, Yu; Long, Chengzu; Bassel-Duby, Rhonda; Olson, Eric N.

Physiol Rev; 98(3): 1205-1240, 2018 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-29717930

9.

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

Yu, Jiaxi; Shan, Jingli; Yu, Meng; Di, Li; Xie, Zhiying; Zhang, Wei; Lv, He; Meng, Lingchao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Guo, Xueyu; Wang, Yang; Xi, Jianying; Zhu, Wenhua; Da, Yuwei; Hong, Daojun; Yuan, Yun; Yan, Chuanzhu; Wang, Zhaoxia; Deng, Jianwen.

Am J Hum Genet; 109(3): 533-541, 2022 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-35148830

10.

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.

Kemaladewi, Dwi U; Bassi, Prabhpreet S; Erwood, Steven; Al-Basha, Dhekra; Gawlik, Kinga I; Lindsay, Kyle; Hyatt, Elzbieta; Kember, Rebekah; Place, Kara M; Marks, Ryan M; Durbeej, Madeleine; Prescott, Steven A; Ivakine, Evgueni A; Cohn, Ronald D.

Nature; 572(7767): 125-130, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31341277

11.

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Smith, Sarah J; Fabian, Lacramioara; Sheikh, Adeel; Noche, Ramil; Cui, Xiucheng; Moore, Steven A; Dowling, James J.

Hum Mol Genet; 31(5): 733-747, 2022 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-34568901

12.

CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.

Scano, Martina; Benetollo, Alberto; Nogara, Leonardo; Bondì, Michela; Dalla Barba, Francesco; Soardi, Michela; Furlan, Sandra; Akyurek, Eylem Emek; Caccin, Paola; Carotti, Marcello; Sacchetto, Roberta; Blaauw, Bert; Sandonà, Dorianna.

Hum Mol Genet; 31(4): 499-509, 2022 02 21.

Artículo en Inglés | MEDLINE | ID: mdl-34505136

13.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

Coppens, Sandra; Barnard, Alison M; Puusepp, Sanna; Pajusalu, Sander; Õunap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R; Goodrich, Julia K; England, Eleina M; Weisburd, Ben; Ganesh, Vijay S; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G; Quinlivan, Ros; Beiraghi Toosi, Mehran; Ghayoor Karimiani, Ehsan; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C; Klee, Eric W; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisèle; Cohen, Enzo; Boland-Augé, Anne; Deleuze, Jean-François; Meng, Yao; Töpf, Ana; Vilain, Catheline.

Am J Hum Genet; 108(5): 840-856, 2021 05 06.

Artículo en Inglés | MEDLINE | ID: mdl-33861953

14.

Analysis of the GFP-labelled ß-dystroglycan interactome in HEK-293 transfected cells reveals novel intracellular networks.

Sciandra, Francesca; Desiderio, Claudia; Vincenzoni, Federica; Viscuso, Simona; Bozzi, Manuela; Hübner, Wolfgang; Jimenez-Gutierrez, Guadalupe Elizabeth; Cisneros, Bulmaro; Brancaccio, Andrea.

Biochem Biophys Res Commun; 703: 149656, 2024 Apr 09.

Artículo en Inglés | MEDLINE | ID: mdl-38364681

15.

A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.

Wen, Bing; Tang, Runqi; Tang, Shuyao; Sun, Yuan; Xu, Jingwen; Zhao, Dandan; Wang, Tan; Yan, Chuanzhu.

J Hum Genet; 69(3-4): 125-131, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38228875

16.

Increased mitochondrial Ca²⁺ contributes to health decline with age and Duchene muscular dystrophy in C. elegans.

Higashitani, Atsushi; Teranishi, Mika; Nakagawa, Yui; Itoh, Yukou; Sudevan, Surabhi; Szewczyk, Nathaniel J; Kubota, Yukihiko; Abe, Takaaki; Kobayashi, Takeshi.

FASEB J; 37(4): e22851, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36935171

17.

Decoding the transcriptome of muscular dystrophy due to Ptrf deficiency using single-nucleus RNA sequencing.

Li, Xiaokai; Zhong, Zhining; Zhang, Ruowei; Zhang, Jiaman; Zhang, Yu; Zeng, Sha; Du, Qinjiao; Wang, Haoming; Zhang, Songling; Lu, Lu; Li, Mingzhou; Long, Keren.

FASEB J; 37(6): e22993, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-37235502

18.

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Altassan, Ruqaiah; AlQudairy, Hanan; AlJebreen, Sarah; AlMuhaizea, Mohammed; Al-Hindi, Hindi; Pena-Guerra, Karla A; Ghebeh, Hazem; Almzroua, Amer; Albakheet, Albandary; AlDosary, Mazhor; Colak, Dilek; Arold, Stefan T; Kaya, Namik.

Am J Med Genet A; 194(4): e63498, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38129970

19.

Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.

Chandrasekhar, Anjana; Mroczkowski, Henry J; Urraca, Nora; Gross, Andrew; Bluske, Krista; Thorpe, Erin; Hagelstrom, R Tanner; Schonberg, Steven A; Perry, Denise L; Taft, Ryan J; Kesari, Akanchha.

Am J Med Genet A; 194(3): e63462, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-37929330

20.

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

Mavillard, Fabiola; Servian-Morilla, Emilia; Dofash, Lein; Rojas-Marcos, Iñigo; Folland, Chiara; Monahan, Gavin; Gutierrez-Gutierrez, Gerardo; Rivas, Eloy; Hernández-Lain, Aurelio; Valladares, Amador; Cantero, Gloria; Morales, Jose M; Laing, Nigel G; Paradas, Carmen; Ravenscroft, Gianina; Cabrera-Serrano, Macarena.

Brain; 146(12): 5235-5248, 2023 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-37503746

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