Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Special Issue on Laminopathies"'
Autor:
Eleonora Canioni, Franco Salerno, Marina Mora, Lorenzo Maggi, Pia Bernasconi, Cristina Cappelletti, Renato Mantegazza
Publikováno v:
Nucleus
Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7c6b9c5ff4e56737e0e2f2c866c6d16
https://doi.org/10.1080/19491034.2018.1471947
https://doi.org/10.1080/19491034.2018.1471947
Autor:
Sara Benedetti, Maurizio Ferrari, Simone Sala, Lorenzo Gigli, Giovanni Peretto, C. Di Resta, P. Della Bella
Publikováno v:
Nucleus
Cardiac laminopathies, associated with mutations in the LMNA gene, encompass a wide spectrum of clinical manifestations, involving electrical and mechanical alterations of cardiomyocytes. Thus, dilated cardiomyopathy, bradyarrhythmias and atrial or v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccdaee91faceb32a7ef320eedac9710
http://europepmc.org/articles/PMC7000139
http://europepmc.org/articles/PMC7000139
Autor:
Capitanchik, Charlotte, Dixon, Charles R., Swanson, Selene K., Florens, Laurence, Kerr, Alastair R. W., Schirmer, Eric C.
Publikováno v:
Nucleus
Capitanchik, C, Dixon, C, Swanson, S K, Florens, L, Kerr, A R W & Schirmer, E C 2018, ' Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins ', Nucleus, vol. 9, no. 1, pp. 410-430 . https://doi.org/10.1080/19491034.2018.1469351
Capitanchik, C, Dixon, C, Swanson, S K, Florens, L, Kerr, A R W & Schirmer, E C 2018, ' Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins ', Nucleus, vol. 9, no. 1, pp. 410-430 . https://doi.org/10.1080/19491034.2018.1469351
Nuclear envelopathies/laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. One possible explanation of this tissue specificity is that tissue-specific partners become disrupted from larger complexe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8031e278eb31d31c42b11508d82bad
http://europepmc.org/articles/PMC7000147
http://europepmc.org/articles/PMC7000147
Autor:
Vincenzo Livio Malavasi, Giuseppe Boriani, Marco Vitolo, Erminio Mauro, Elena Biagini, Giulia Gorlato, Giovanna Lattanzi, Matteo Ziacchi, Marisa Talarico
Publikováno v:
Nucleus
Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as ‘cardiolaminopathies’ characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::139a4b544d737d0c3bb791dded03e131
https://pubmed.ncbi.nlm.nih.gov/30130999
https://pubmed.ncbi.nlm.nih.gov/30130999
Publikováno v:
Nucleus
Nucleus (Austin, Tex. Online) 9 (2018): 368–379. doi:10.1080/19491034.2018.1476793
info:cnr-pdr/source/autori:Burla R.; La Torre M.; Merigliano C.; Verni F.; Saggio I./titolo:Genomic instability and DNA replication defects in progeroid syndromes/doi:10.1080%2F19491034.2018.1476793/rivista:Nucleus (Austin, Tex. Online)/anno:2018/pagina_da:368/pagina_a:379/intervallo_pagine:368–379/volume:9
Nucleus (Austin, Tex. Online) 9 (2018): 368–379. doi:10.1080/19491034.2018.1476793
info:cnr-pdr/source/autori:Burla R.; La Torre M.; Merigliano C.; Verni F.; Saggio I./titolo:Genomic instability and DNA replication defects in progeroid syndromes/doi:10.1080%2F19491034.2018.1476793/rivista:Nucleus (Austin, Tex. Online)/anno:2018/pagina_da:368/pagina_a:379/intervallo_pagine:368–379/volume:9
Progeroid syndromes induced by mutations in lamin A or in its interactors – named progeroid laminopathies – are model systems for the dissection of the molecular pathways causing physiological and premature aging. A large amount of data, based ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57efa476287a0f3823e3492b4685e1ae
https://pubmed.ncbi.nlm.nih.gov/29936894
https://pubmed.ncbi.nlm.nih.gov/29936894
Autor:
Alessandra Gambineri, L. Zanotti
Publikováno v:
Nucleus
Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the environment. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec10fe15c2c009b9928a013428894e9
http://hdl.handle.net/11585/652351
http://hdl.handle.net/11585/652351
Autor:
Vigouroux, Corinne1,2,3 Corinne.Vigouroux@inserm.fr, Guénantin, Anne-Claire1,4, Vatier, Camille1,3, Capel, Emilie1, Dour, Caroline Le1, Afonso, Pauline1, Bidault, Guillaume1,5, Béréziat, Véronique1, Lascols, Olivier1,2, Capeau, Jacqueline1, Briand, Nolwenn1,6, Jéru, Isabelle1,2
Publikováno v:
Nucleus (1949-1034). 2019 Supplement, Vol. 10, p251-264. 14p.
Autor:
Harhouri, Karim1, Frankel, Diane1,2, Bartoli, Catherine1, Roll, Patrice1,2, De Sandre-Giovannoli, Annachiara1,3, Lévy, Nicolas1,3 Nicolas.Levy@univ-amu.fr
Publikováno v:
Nucleus (1949-1034). 2019 Supplement, Vol. 10, p265-276. 12p.
Autor:
Bianchi, Andrea1,2, Manti, Pierluigi Giuseppe3, Lucini, Federica2, Lanzuolo, Chiara1,2,3 chiara.lanzuolo@cnr.it
Publikováno v:
Nucleus (1949-1034). 2019 Supplement, Vol. 10, p321-335. 15p.
Autor:
Burla, Romina1,2, Torre, Mattia La1,2, Merigliano, Chiara1, Vernì, Fiammetta1, Saggio, Isabella1,2,3 isabella.saggio@uniroma1.it
Publikováno v:
Nucleus (1949-1034). 2019 Supplement, Vol. 10, p368-379. 12p.