Výsledky vyhledávání - "Special Issue on Laminopathies"

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

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

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Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

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

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Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins

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

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

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Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

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

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Genomic instability and DNA replication defects in progeroid syndromes

Autor: Fiammetta Vernì, Chiara Merigliano, Isabella Saggio, Mattia La Torre, Romina Burla

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

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

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Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects

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

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