Results 41 to 50 of about 1,743 (194)
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy [PDF]
, 2021 Purpose: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies.Jackson, Andrew P., H. Brittain, Suri, Mohnish, L.J. Jones, D. Kasperaviciute, Mueller, M., L.C. Daugherty, A. Rendon, Alan J. Quigley, Mason, J., J. Mason, Moira Blyth, Brittain, H., Jones, L. J., Gillian Rea, Craig, C. E. H., Murugaesu, N., Patch, C., Andrew P. Jackson, Pereira, M. B., E.M. McDonagh, F. Maleady-Crowe, Leigh, S. E. A., Rahim, T., N. Murugaesu, H.E. Stevens, Furió-Tarí, P., Lahnstein, L., Donnelly, Deirdre, Perez-Gil, D., Foulger, R. E., P. Riesgo-Ferreiro, Jackson, R., E.R.A. Thomas, A. de Burca, Savage, K., T. Fowler, Kayikci, M., A. Kousathanas, A. Stuckey, McKenna, Caoimhe, T.J.P. Hubbard, Scott, R. H., R. Sultana, Hackett, J. M., McDonagh, E. M., C. Patch, Maleady-Crowe, F., Polychronopoulos, D., Tucci, A., Rea, Gillian, K. Sawant, S.A. Watters, M.J. Welland, Victoria Harrison, Greville-Heygate, Stephanie, L. Moutsianas, D. Polychronopoulos, Sosinsky, A., F.J. Lopez, M. Mueller, Riesgo-Ferreiro, P., J. Pullinger, R. Jackson, Elgar, G., E. Williams, Williams, E., Leong, I. U. S., A. Siddiq, A. Sosinsky, K. Ibáñez, Fowler, T., Philip Greene, A.C. Need, Thompson, S. R., R.H. Scott, K. Lawson, Lisa Robertson, E.L. Baple, Tanguy, M., Lynn Greenhalgh, Walsh, E., Rogers, T., Lachlan, Katherine, Kasperaviciute, D, Caulfield, M. J., Smedley, D., Stevens, H. E., E. Walsh, Henderson, S., M.J. Caulfield, Blyth, Moira, Lawson, K., Sawant, K., Quigley, Alan J., Martin, Carol Anne, Moutsianas, L., Holman, J. E., A. Devereau, A. Orioli, C. Tregidgo, A. Tucci, Katherine Lachlan, C.R. Boustred, Sieghart, A., M. Bleda, Chan, G. C., K. Witkowska, T. Rahim, Smith, K. R., Joseph A. Marsh, M. Tanguy, J.C. Ambrose, Harrison, Victoria, S.M. Wood, de Burca, A., Wood, S. M., S. Henderson, Halai, D., A. Sieghart, M.B. Pereira, David A. Parry, Cox, Helen, J.M. Boissiere, D. Halai, C.E.H. Craig, S.E.A. Leigh, A. Giess, Boardman-Pretty, F., Daugherty, L. C., Greene, Philip, Orioli, A., Kousathanas, A., Sultana, R., Ryten, M., Bleda, M., D. Smedley, Deirdre Donnelly, Zarowiecki, M., Smith, S. C., G. Elgar, C.A. Odhams, Odhams, C. A., I.U.S. Leong, M. Ryten, Devereau, Andrew; id_orcid, Carol-Anne Martin, Hamblin, A., Helen Cox, K.R. Smith, S.R. Thompson, W. Spooner, G.C. Chan, Boissiere, J. M., Giess, A., Boustred, C. R., Stephanie Greville-Heygate, Need, A. C., Pullinger, J., Siddiq, A., Tregidgo, C., P. Arumugam, Baple, E. L., Thomas, E. R. A., R.E. Foulger, Rendon, A., Stuckey, A., J.M. Hackett, Lopez, F. J., Ibáñez, K., Spooner, W., J.E. Holman, S.C. Smith, Hubbard, T. J. B., P. Furió-Tarí, D. Perez-Gil, Welland, M. J., K. Savage, Robertson, Lisa, A. Hamblin, M. Zarowiecki, Caoimhe McKenna, Marsh, Joseph A., Mohnish Suri, Parry, David A., F. Boardman-Pretty, T. Rogers, M. Kayikci, Watters, S. A., Witkowska, K., Arumugam, P., Greenhalgh, Lynn, Ambrose, J. C., L. Lahnstein +193 morecore +2 more sourcesPremature aging of the body - the role of laminopathy [PDF]
Farmacja Polska, 2021 Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability Julia Wiśniewska, Zofia Dzierżewicz, Natalia Magdalena Schäfer, Karol Jasiński, Anna Kusakiewicz-Dawid, Dawid Bursy, Urszula Skotnicka-Graca, Radosław Jerzy Balwierz +7 moredoaj +1 more sourceMouse models of the laminopathies [PDF]
Experimental Cell Research, 2007 The A and B type lamins are nuclear intermediate filament proteins that comprise the bulk of the nuclear lamina, a thin proteinaceous structure underlying the inner nuclear membrane. The A type lamins are encoded by the lamin A gene (LMNA). Mutations in this gene have been linked to at least nine diseases, including the progeroid diseases Hutchinson ...Colin L, Stewart, Serguei, Kozlov, Loren G, Fong, Stephen G, Young +3 moreopenaire +2 more sourcesData related to article "Cytokine profile in striated muscle laminopathies: new promising biomarkers for disease prediction"
, 2021 This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other ...Politano, Luisa, D'Amico, Adele, Mongini, Tiziana, Tramacere, Irene, Maggi. Lorenzo, Lattanzi, giovanna, D'Apice, Maria R, Bernasconi, Pia, Ricci, Giulia, Siciliano, Gabriele, Carboni, Nicola, Schena, Elisa, Biagini, Elena, Ruggiero, Lucia, Cavalcante,Paola, Gambineri, Alessandra, Vercelli. Liliana, Mantegazza , Renato E, Boriani, Giuseppe, Cristina, Cappelletti, Ziacchi, Matteo +20 morecore +1 more sourceCase Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C
Frontiers in Endocrinology, 2021 PurposeFamilial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri +7 moredoaj +1 more sourceEffect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent “Lone AF” Patients: Results and Insights
Frontiers in Cardiovascular Medicine, 2022 ObjectiveMutations in the Lamin A/C(LMNA) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare LMNA variants are unknown.Gabrielle D'Arezzo Pessente, Gabrielle D'Arezzo Pessente, Luciana Sacilotto, Zaine Oliveira Calil, Natalia Quintella Sangiorgi Olivetti, Fanny Wulkan, Théo Gremen Mimary de Oliveira, Anísio Alexandre Andrade Pedrosa, Tan Chen Wu, Denise Tessariol Hachul, Maurício Ibrahim Scanavacca, José Eduardo Krieger, Francisco Carlos da Costa Darrieux, Alexandre da Costa Pereira +13 moredoaj +1 more sourceCardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study
, 2021 Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias.Roman Steckiewicz, Ewa Ostrowska, Madej-Pilarczyk, Agnieszka, Marcin Grabowski, Marchel, Michał, Vincenzo Russo, Ostrowska, Ewa, Tymińska, Agata, Steckiewicz, Roman, Agata Tymińska, Julia Wysińska, Russo, Vincenzo, Grabowski, Marcin, Agnieszka Madej-Pilarczyk, Grzegorz Opolski, Michał Marchel, Opolski, Grzegorz, Wysińska, Julia +17 morecore +1 more source
