Results 91 to 100 of about 22,553 (288)

Investigating LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

International Journal of Molecular Sciences, 2021
LMNA-related dilated cardiomyopathy is an inherited heart disease caused by mutations in the LMNA gene encoding for lamin A/C. The disease is characterized by left ventricular enlargement and impaired systolic function associated with conduction defects ...
Y. Shemer, L. Mekies, Ronen Ben Jehuda, P. Baskin, Rita Shulman, B. Eisen, Daniel Regev, E. Arbustini, B. Gerull, M. Gherghiceanu, E. Gottlieb, M. Arad, O. Binah   +12 more
semanticscholar   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Improved split fluorescent proteins for endogenous protein labeling. [PDF]

, 2017
Self-complementing split fluorescent proteins (FPs) have been widely used for protein labeling, visualization of subcellular protein localization, and detection of cell-cell contact.
Feng, Siyu, Huang, Bo, Leonetti, Manuel D, Li, Han, Pessino, Veronica, Sekine, Sayaka   +5 more
core   +2 more sources

Lamin A Deregulation in Human Mesenchymal Stem Cells Promotes an Impairment in their Chondrogenic Potential and Imbalance in their Response to Oxidative Stress [PDF]

, 2013
[Abstract] In the present study, we examined the effect of the over-expression of LMNA, or its mutant form progerin (PG), on the mesoderm differentiation potential of mesenchymal stem cells (MSCs) from human umbilical cord (UC) stroma using a recently ...
Arufe, M.C., Blanco García, Francisco J, Fernández-Pernas, Pablo, Fuente, Alexandre de la, Lesende-Rodríguez, Iván, Mateos, Jesús   +5 more
core   +2 more sources

Irisin levels in LMNA-associated partial lipodystrophies [PDF]

Diabetes & Metabolism, 2019
The adipo-myokine irisin regulates energy expenditure and fat metabolism. LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. The aim of this study was to investigate whether irisin could be a biomarker of FPLD2.This case control study included 19 FPLD2 subjects, 13 obese non-diabetic
Bensmaïne, F., Benomar, K., Espiard, S., Vahe, C., Le Mapihan, K., Lion, G., Lemdani, M., Chazard, E., Ernst, O., Vigouroux, C., Pigny, P., Vantyghem, M.-C.   +11 more
openaire   +4 more sources

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

Journal of Physiological Sciences, 2023
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +1 more source

Unveiling unique protein and phosphorylation signatures in lung adenocarcinomas with and without ALK, EGFR, and KRAS genetic alterations

Molecular Oncology, EarlyView.
Proteomic and phosphoproteomic analyses were performed on lung adenocarcinoma (LUAD) tumors with EGFR, KRAS, or EML4–ALK alterations and wild‐type cases. Distinct protein expression and phosphorylation patterns were identified, especially in EGFR‐mutated tumors. Key altered pathways included vesicle transport and RNA splicing.
Fanni Bugyi, Mirjam Balbisi, Simon Sugár, Lóránd Váncza, Eszter Regős, Ilona Kovalszky, Ibolya Laczó, Tünde Harkó, Gábor Kecskeméti, Zoltán Szabó, Judit Moldvay, László Drahos, Lilla Turiák   +12 more
wiley   +1 more source

Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]

, 2014
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee, Jaalouk, Diana E., Lammerding, Jan, Vartiainen, Maria K.   +3 more
core   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Alleviation of Aging‐Related Hallmarks in a Mouse Model of Progeria via a Nanoparticle‐Based Artificial Transcription Factor

Advanced Functional Materials, EarlyView.
Oct4‐nanoscript, a biomimetic nanoparticle‐based artificial transcription factor, precisely regulates cellular rejuvenation by activating Oct4 target genes, restoring epigenetic marks, and reducing DNA damage. In a progeria model, it effectively rescued aging‐associated pathologies and extended lifespan.
Hongwon Kim, Junyeop Kim, Euiyeon Lee, Brandon Conklin, Yannan Hou, Sumin Kim, Yerim Hwang, Ki‐Bum Lee, Jongpil Kim   +8 more
wiley   +1 more source