Results 61 to 70 of about 1,884 (173)
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy
Frontiers in Genetics, 2019 Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies ...Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Anna Kostareva, Anna Kostareva +21 moredoaj +1 more sourceThe multifactorial impact of receiving a hereditary angioedema diagnosis
World Allergy Organization Journal, 2023 Hereditary angioedema (HAE) is a rare, chronic, debilitating genetic disorder characterized by recurrent, unpredictable, and potentially life-threatening episodes of swelling that typically affect the extremities, face, abdomen, genitals, and larynx. The Jason Raasch, MD, Mark C Glaum, MD, PhD, Maeve O’Connor, MD +2 moredoaj +1 more sourceCalpains, Cleaved Mini-Dysferlin(C72), and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair [PDF]
, 2013 Dysferlin is proposed as a key mediator of calcium-dependent muscle membrane repair, although its precise role has remained elusive. Dysferlin interacts with a new membrane repair protein, mitsugumin 53 (MG53), an E3 ubiquitin ligase that shows rapid ...Cooper, ST, Evesson, FJ, Lek, A, Lemckert, FA, Lueders, AK, North, KN, Redpath, GMI, Turnbull, L, Whitchurch, CB +8 morecore +3 more sourcesDivergent roles of mitochondria dynamics in pancreatic ductal adenocarcinoma [PDF]
, 2022 Pancreatic ductal adenocarcinoma (PDAC) is one of the most aggressive tumors; it is often diagnosed at an advanced stage and is hardly treatable.Ambrosini, Giulia, Carmona-Carmona, Cristian Andres, Dalla Pozza, Elisa, Dando, Ilaria, Errico, Andrea +4 morecore +1 more sourceMyoferlin silencing inhibits VEGFR2-mediated proliferation of metastatic clear cell renal cell carcinoma [PDF]
Scientific Reports, 2019 AbstractRecently, ramucirumab, a drug that targets vascular endothelial growth factor receptor (VEGFR), was clinically approved; therefore, we evaluated VEGFR2 expression and its predictive roles in tumor progression in clear cell renal cell carcinoma (CCRCC).An, Hyo Jung, Song, Dae Hyun, Koh, Hyun Min, Kim, Yu-Min, Ko, Gyung Hyuck, Lee, Jeong-Hee, Lee, Jong Sil, Yang, Jung Wook, Kim, Min Hye, Seo, Deok Ha, Jang, Se Min, Kim, Dong Chul +11 moreopenaire +2 more sourcesBlood-based omic profiling supports female susceptibility to tobacco smoke-induced cardiovascular diseases [PDF]
, 2017 We recently reported that differential gene expression and DNA methylation profiles in blood leukocytes of apparently healthy smokers predicts with remarkable efficiency diseases and conditions known to be causally associated with smoking, suggesting ...A Cepeda-Benito, A Durante, A Papadopoulos, A Parrales, A Pedram, AJ Leger, AL Farré, AT Franco, B Heinhuis, BH Im, C Giampietro, C Kiyohara, D Crosby, D Scharf, D Shiffman, DA Lewis, DD Haines, DG Hebels, DH Vandael, E Marcantoni, GW Zamponi, H Cao, H Wang, HA Powell, HL Hsieh, I Hers, IMS Shenker, K Nakai, KB Reddy, KH Chan, L Lanzetti, M Parra, M Roy-O’Reilly, M Vogler, ME Mangoni, MJ Puckelwartz, P Shende, P Wenzel, R Chaireti, R Chen, R Joehanes, R Li, RR Huxley, S Aryal, S Bingham, S Ramström, S Zeilinger, SA Peters, SM Baig, SM Smith, T Dolinay, T Gremmel, TG Nührenberg, TY Wang, Y Appelman, Y Wang, Y Yu, YA Senis, YF Melman, Z Wang +59 morecore +3 more sourcesKnockdown of Myoferlin Suppresses Migration and Invasion in Clear-Cell Renal-Cell Carcinoma [PDF]
Anticancer Research, 2020 Myoferlin (MYOF) has emerged as an oncogenic protein in various human cancer types. This study was conducted to investigate comprehensively the expression and functional properties of MYOF in clear-cell renal-cell carcinoma (ccRCC) with respect to its value as diagnostic biomarker and therapeutic target.mRNA and protein expression of MYOF were assessed ALEXANDER COX, CHENMING ZHAO, YURI TOLKACH, DANIEL NETTERSHEIM, DORIS SCHMIDT, GLEN KRISTIANSEN, STEFAN C. MUELLER, MANUEL RITTER, STEFAN HAUSER, JOERG ELLINGER +9 moreopenaire +2 more sourcesSurface molecules of extracellular vesicles secreted by the helminth pathogen Fasciola hepatica direct their internalisation by host cells. [PDF]
PLoS Neglected Tropical Diseases, 2019 Helminth parasites secrete extracellular vesicles (EVs) that can be internalised by host immune cells resulting in modulation of host immunity. While the molecular cargo of EVs have been characterised in many parasites, little is known about the surface ...Eduardo de la Torre-Escudero, Jared Q Gerlach, Adam P S Bennett, Krystyna Cwiklinski, Heather L Jewhurst, Kathryn M Huson, Lokesh Joshi, Michelle Kilcoyne, Sandra O'Neill, John P Dalton, Mark W Robinson +10 moredoaj +1 more sourceA mRNA landscape of bovine embryos after standard and MAPK-inhibited culture conditions: a comparative analysis. [PDF]
, 2015 BACKGROUND: Genes and signalling pathways involved in pluripotency have been studied extensively in mouse and human pre-implantation embryos and embryonic stem (ES) cells.A Graf, A Ralston, AC Eklund, AC Nicacio, AV Zimin, B Plusa, B Wilkinson, Bas Brinkhof, Bernard AJ Roelen, BPVL Telugu, C Chazaud, D Acampora, D Rizos, D Strumpf, D Xie, DA Stringfellow, DK Berg, DR Khan, EW Kuijk, F Izadyar, Frank M Riemers, GA Bó, GR Martin, H Auer, H Nagatomo, H Sumer, H Wu, Helena TA van Tol, Henk P Haagsman, J Nichols, J SantaLucia, J Schindelin, JA Hackett, JA Thomson, JA Thomson, JH Kim, JJ Parrish, JM Veltmaat, JS Kuo, K Imakawa, K Kondoh, K Kurimoto, Kaveh Mashayekhi, KM Johnson, KM Loh, L Brown, L Shi, LA Boyer, LS Lim, M Buehr, M Fürthauer, M Ozawa, M Roode, M Van Der Jeught, M Yamaji, M Zernicka-Goetz, M Zuker, MA Sirard, Marian JA Groot Koerkamp, MC Wallingford, MJ Evans, N Grabole, N Schrode, NB Ivanova, P Roepman, Q Li, Q Ying, QL Ying, R Edgar, R Jaenisch, RM Roberts, S Kurosaka, S Tanaka, S Wageningen van, Sascha G IJzer, SH Yang, SJ Roper, T Casci, T Ezashi, T Hamatani, T Margaritis, T Sakaguchi, T Sakurai, TS Tanaka, WA Kues, WN D’Souza, Y Chu, Y Grinblat, Y Wang, Y Yamanaka, YH Loh, YH Yang, Z Du, Z Ma, Z Madeja, Z Wang +95 morecore +2 more sourcesThe International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria
Allergy, EarlyView.ABSTRACT
This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...T. Zuberbier, Z. Abdul Hameed Ansari, A. H. Abdul Latiff, M. M. Abuzakouk, M. S. Agcaoili‐De Jesus, R. C. Agondi, M. Al‐Ahmad, A. A. Alangari, H. Alhameli, C. D. Alonso Bello, S. Alshareef, S. Al‐Tamemi, S. Altrichter, H. Al Wahshi, S. Aquilina, M. Araújo, R. Arnaout, R. Asero, B. Ballmer‐Weber, C. Bangert, A. Bauer, M. Ben‐Shoshan, J. A. Bernstein, C. Bindslev‐Jensen, M. Bizjak, I. Boccon‐Gibod, H. Bonnekoh, L. Bouillet, K. Brockow, Z. Brzoza, M. Bulatović Ćalasan, A. Bulkhi, T. Buttgereit, A. Bygum, T. Caballero, O. Calderon, R. Campos, M. Cancian, E. Carne, M. A. Castor, I. Cerecedo, T. Çetinarslan, I. Cherrez‐Ojeda, N. Chkhikvadze, H. J. Chong‐Neto, K. Choo, G. Christoff, C.‐Y. Chu, K. Ciupka, N. Conlon, C. Costa, T. Craig, P. Criado, I. Danilycheva, R. Darlenski, E. De Arruda Chaves, L. de Montjoye, M. S. Doutre, A. Du‐Thanh, D. Ebo, S. Elkhalifa, S. Elmariah, T. El‐Shanawany, L. F. Ensina, R. Ertaş, R. Fachini Jardim Criado, M. Ferrer, S. Ferrucci, J. S. Fok, D. Fomina, L. Fonacier, G. Fouda, I. Francescantonio, A. Fukunaga, C. A. Galvan Calle, E. Garcia, K. Gáspár, A. Gelincik, S. Geng, K. Godse, M. Gonçalo, M. Gotua, C. Grattan, M. Grosber, G. Guidos Fogelbach, M. Guilarte, R. Guillod, E. Hamelmann, J. Hawkes, K. Hayama, R. Heuer, M. Hide, W. Hoetzenecker, N. Inomata, H.‐R. Kang, A. Kaplan, A. Kapp, M. Karam, A. Kasperska‐Zajac, C. H. Katelaris, A. Kessel, M. Khoshkhui, B. Kim, T. Kinaciyan, E. Kocatürk, M. Kolacinska‐Flont, P. Kolkhir, G. N. Konstantinou, M. Kosnik, D. Krasowska, K. Kulthanan, M. S. Kumaran, I. Kuprys‐Lipinska, M. Labrador, J. I. Larco, D. Larenas‐Linnemann, E. Latysheva, E. Lazaridou, P. H. Li, H. Lima, U. Lippert, M. Magerl, M. Makris, J. Alves Marcelino, A. V. Marzano, I. Medina, R. Meshkova, D. Micallef, R. Mohammed Ali, C. G. Mortz, M. Munoz, H. N. G. Oude Elberink, A. Nakonechna, I. Nasr, A. Nast, E. Netchiporouk, E. Nettis, S. Nieto, I. Ogueta Canales, T.‐L. Okas, R. L. Orfali, E. Özkaya, C. Parisi, A. Pennitz, R. Pawankar, M. P. Pereira, J. Peter, E. Petkova, P. D. Pigatto, I. Podder, T. Popov, G. Porebski, P. Pyatilova, G. D. Ramon, H. A. Ratti Sisa, M. Recto, K. Ress, K. Ridge, M. Riedl, C. Ritchie, N. Rosario Filho, I. Rosmaninho, M. Rudenko, M. Rukhadze, K. Rutkowski, V. Sabato, U. M. Sahiner, S. Saini, F. Saleh Al Sabbagh, A. Salman, F. Salvo, J. Sanchez, A. Santucci, S. Schliemann, P. Schmid‐Grendelmeier, B. E. Sekerel, F. Serpa, F. Sheikh, J. Sheikh, H. Shendi, F. Siebenhaar, M. Sonomjamts, A. Soria, B. Sousa Pinto, M. Staevska, P. Staubach, M. Stephan, K. Stevanovic, L. Stingeni, M. Stobiecki, Ö. Su Küçük, G. Sussman, A. Szegedi, S. Takahagi, A. Tanaka, N. Teovska Mitrevska, S. F. Thomsen, E. Toubi, F. Tsatsou, M. Turk, Z. Vadasz, A. Valerieva, S. Valle, M. v. Doorn, B. Veleiro Perez, C. E. Vera Ayala, C. Vestergaard, R. J. Vieira, C. W. Maruta, B. Wedi, R. N. Werner, E. W. Y. Yap, P. Xepapadaki, Y. Xiang, Y.‐M. Ye, P. Yong, G. Yosipovitch, A. Z. J. Zalewska‐Janowska, C. Zeyen, Z. Zhao, M. Metz, A. M. Giménez‐Arnau +221 morewiley +1 more source
