Results 51 to 60 of about 1,800 (131)
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 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 sourcesAcid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]
, 2019 In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu +7 morecore +2 more sourcesCalpain cleavage and subcellular characterisation of the ferlin family. [PDF]
, 2001 The ferlins are a family of C2-domain containing proteins. C2 domains regulate vesicle fusion in synaptotagmins, and animal models of ferlin deficiency display pathologies related to Ca2+-dependent vesicle fusion.Casselman, Jan, CREMERS, CWRJ, HUYGEN, PLM, KUMAR, S, Standaert, Lien, STINCKENS, C, VAN DE WALLEN, J +6 morecore +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 sourceComparative Proteomic Analysis of Hymenolepis diminuta Cysticercoid and Adult Stages [PDF]
, 2018 Cestodiases are common parasitic diseases of animals and humans. As cestodes have complex lifecycles, hexacanth larvae, metacestodes (including cysticercoids), and adults produce proteins allowing them to establish invasion and to survive in the hostile ...Bien, Justyna, Conn, David Bruce, Mlocicki, Daniel, Nareaho, Anu, Salamatin, Ruslan, Savijoki, Kirsi, Sulima, Anna +6 morecore +2 more sourcesTECPR1 conjugates LC3 to damaged endomembranes upon detection of sphingomyelin exposure [PDF]
, 2023 Invasive bacteria enter the cytosol of host cells through initial uptake into bacteria‐containing vacuoles (BCVs) and subsequent rupture of the BCV membrane, thereby exposing to the cytosol intraluminal, otherwise shielded danger signals such as glycans ...Boyle, Keith B, Dionne, Marc S, Elliott, Paul R, Ellison, Cara J, Grimes, Krista, Martens, Sascha, Munro, Sean, Randow, Felix, Sasakawa, Chihiro, Schuschnig, Martina +9 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 sourceMultiple testing procedures under confounding
, 2008 While multiple testing procedures have been the focus of much statistical
research, an important facet of the problem is how to deal with possible
confounding. Procedures have been developed by authors in genetics and
statistics.Ghosh, Debashiscore +1 more sourceEpigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFR [PDF]
, 2017 Metastasis is respoMetastasis is responsible for most cancer-related deaths, and, among common tumor types, melanoma is one with great potential to metastasize.Berrocal, Alfonso, Botella-Estrada, Rafael, Carmona, F. Javier, DenFrederick, Dennie T., Esteller, Manel, Fernandez-Figueras, Maria Teresa, Ferreira, Humberto J., Flaherty, Keith T., Gallagher, William M., Girotti, Maria Romina, Guil, Sonia, Heyn, Holger, Liz, Julia, Lorigan, Paul, López Serra, Paula, Manzano, José Luis, Marais, Richard, Martínez Cardús, Anna, Martínez Iniesta, María, McDermott, Ultan, Moran, Sebastian, Moutinho, Cátia, Muñoz-Couselo, Eva, Oord, Joost van den, Pontén, Fredrik, Portela, Anna, Vidal-Bel, August, Villanueva Garatachea, Alberto, Vizoso, Miguel, Élez, Elena +29 morecore +1 more source