Results 131 to 140 of about 22,553 (288)

Accurate detection of dysmorphic nuclei using dynamic programming and supervised classification [PDF]

, 2017
A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs.
Catrysse, Hannes, De Vos, Winnok, De Vylder, Jonas, Philips, Wilfried, Robijns, Joke, Verschuuren, Marlies   +5 more
core   +3 more sources

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome

Genes
The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolecular interactions, and heterozygous substitutions ...
Matheus V. M. B. Wilke, Myra Wick, Tanya L. Schwab, Rodrigo Tzovenos Starosta, Karl J. Clark, Heidi M. Connolly, Eric W. Klee   +6 more
openaire   +2 more sources

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

PLoS ONE, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Cinzia Forleo, Monica Carmosino, Nicoletta Resta, Alessandra Rampazzo, Rosanna Valecce, Sandro Sorrentino, Massimo Iacoviello, Francesco Pisani, Giuseppe Procino, Andrea Gerbino, Arnaldo Scardapane, Cristiano Simone, Martina Calore, Silvia Torretta, Maria Svelto, Stefano Favale   +15 more
doaj   +1 more source

Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]

, 2004
[Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz, Castro-Beiras, Alfonso, Crespo-Leiro, María Generosa, Hermida-Prieto, Manuel, Laredo, Rafael, Monserrat, Lorenzo, Muñiz, Javier, Peteiro-Vázquez, Jesús, Rodríguez, Esther, Soler Fernández, Rafaela, Álvarez-García, Nemesio   +10 more
core   +2 more sources

Genotype‐phenotype analysis of LMNA‐related diseases predicts phenotype‐selective alterations in lamin phosphorylation

The FASEB Journal, 2020
Laminopathies are rare diseases associated with mutations in LMNA, which encodes nuclear lamin A/C. LMNA variants lead to diverse tissue‐specific phenotypes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and
Eric W. Lin, Graham F. Brady, Raymond Kwan, A. Nesvizhskii, M. Omary   +4 more
semanticscholar   +1 more source

Nuclear Import Defects Drive Cell Cycle Dysregulation in Neurodegeneration

Aging Cell, EarlyView.
Overview of Dysregulated Cell Cycle Mechanisms in Neuronal Cells. A nuclear import block drives cell cycle re‐entry from G0, culminating in cell cycle arrest at G1/S. This cell cycle arrest is associated with activation of CKIs from the INK locus (p15, p16, p18, p19) and Cip/Kip (p21, p27) which act on specific CDK/Cyclin complexes.
Jonathan Plessis‐Belair, Taylor Russo, Markus Riessland, Roger B. Sher   +3 more
wiley   +1 more source

PDGF pathway in LMNA-related dilated cardiomyopathy [PDF]

Nature Reviews Cardiology, 2019
Activation of the PDGF pathway is involved in the pathogenesis of dilated cardiomyopathy caused by mutations in LMNA; this new finding suggests that inhibition of PDGFRβ is a novel therapeutic target for patients with this condition.
openaire   +2 more sources

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Molecular Therapy: Nucleic Acids, 2018
We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy.
Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T. Bertrand   +12 more
doaj   +1 more source

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

Cells, 2020
Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi   +20 more
doaj   +1 more source

Patient‐Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson‐Gilford Progeria Syndrome

Aging Cell, EarlyView.
HGPS patient‐derived cortical organoids exhibit progerin accumulation, nuclear abnormalities, and increased senescence in rosette structures, leading to impaired neuronal differentiation and altered gene expression. ABSTRACT Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by ...
Seeun Jeon, Chul‐Sung Park, Juyoung Hong, Jieun Kim, Yun Jin Lee, Junho K. Hur, Ji Yeoun Lee   +6 more
wiley   +1 more source