Results 61 to 70 of about 22,553 (288)

Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies

Nucleus, 2020
Decades of studies have established that nuclear lamin polymers form the nuclear lamina, a protein meshwork that supports the nuclear envelope structure and tethers heterochromatin to the nuclear periphery.
Sunny Yang Liu, Kohta Ikegami
doaj   +1 more source

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration

BMC Medical Genomics, 2023
LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies.
Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu, Lian Wang   +6 more
doaj   +1 more source

Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling

Journal of Personalized Medicine, 2022
Background: Mutations in the Lamin A/C (LMNA) gene are responsible for about 6% of all familial dilated cardiomyopathy (DCM) cases which tend to present at a young age and follow a fulminant course.
B. Neupane, Kabita Pradhan, A. Ortega-Ramírez, P. Aidery, Vytautas Kučikas, Matthias Marks, M. V. van Zandvoort, K. Klingel, K. Witte, S. Gründer, N. Marx, M. Gramlich   +11 more
semanticscholar   +1 more source

Genomic instability and DNA replication defects in progeroid syndromes [PDF]

, 2018
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 physio- logical and premature aging.
Chiara Merigliano, Fiammetta Vernì, Isabella Saggio, Mattia La Torre, Romina Burla   +4 more
core   +1 more source

Serum lipidomics meets cardiac magnetic resonance imaging: profiling of subjects at risk of dilated cardiomyopathy. [PDF]

PLoS ONE, 2011
Dilated cardiomyopathy (DCM), characterized by left ventricular dilatation and systolic dysfunction, constitutes a significant cause for heart failure, sudden cardiac death or need for heart transplantation.
Marko Sysi-Aho, Juha Koikkalainen, Tuulikki Seppänen-Laakso, Maija Kaartinen, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Margareta Antila, Kirsi Lauerma, Eeva Reissell, Raija Jurkko, Jyrki Lötjönen, Tiina Heliö, Matej Orešič   +13 more
doaj   +1 more source

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Nucleus, 2023
Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis   +5 more
doaj   +1 more source

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

International Journal of Molecular Sciences, 2022
Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20–40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however, some remain elusive.
F. Sedaghat-Hamedani, S. Rebs, E. Kayvanpour, Chenchen Zhu, Ali Amr, Marion Müller, J. Haas, Jingyan Wu, L. Steinmetz, P. Ehlermann, K. Streckfuss-Bömeke, N. Frey, B. Meder   +12 more
semanticscholar   +1 more source

Pushing the (nuclear) envelope into meiosis. [PDF]

, 2013
A recent study shows that a short isoform of a mammalian nuclear lamin is important for homologous chromosome interactions during meiotic prophase in ...
Dernburg, Abby F
core   +1 more source

Metreleptin therapy in LMNA-linked lipodystrophies [PDF]

Orphanet Journal of Rare Diseases, 2015
Lipodystrophic syndromes are rare diseases of acquired or genetic origin, associating a decreased amount of fat (with an altered distribution of body fat in partial forms) and the metabolic alterations usually observed in obesity, i.e. insulin resistance leading to diabetes, hypertriglyceridemia with the risk of acute pancreatitis, fatty liver with ...
Corinne Vigouroux, Camille Vatier
openaire   +2 more sources

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
core   +1 more source