Results 81 to 90 of about 23,382 (212)

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

Identification of novel RNA isoforms of LMNA [PDF]

Nucleus, 2017
The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing.
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam, Tom Misteli   +5 more
openaire   +2 more sources

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Multilevel analysis of nuclear dynamics in lamin perturbed fibroblasts [PDF]

, 2010
The nuclear lamina provides structural support to the nucleus and has a central role in defining nuclear organization. Defects in its filamentous constituents, the lamins, lead to a class of diseases collectively referred to as laminopathies.
Broers, Jos, De Vos, Winnok, Hoebe, Ron A, Houben, Frederik, Joss, Greg, Manders, Erik, Ramaekers, Frans, Van Oostveldt, Patric   +7 more
core  

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

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 ...
Vatier, Camille, Vigouroux, Corinne
openaire   +1 more source

Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene

Cells, 2017
Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot.
Michael V. Zaragoza, Cecilia H. H. Nguyen, Halida P. Widyastuti, Linda A. McCarthy, Anna Grosberg   +4 more
doaj   +1 more source

Heat Stress Triggers Nuclear Invagination and Spatial Compartmentalization of Protein Metabolism

Cell Proliferation, EarlyView.
Cells adapt heat stress to shape a nuclear invagination region function as “protein metabolism hotspots”, where both protein production and degradation are enhanced. ABSTRACT Heat stress is a common challenge for cells, causing multiple types of cellular damage while triggering complex stress responses, including the highly conserved mechanism known as
Zhi‐Hao Zhang, Yuan‐Tao Qiu, Jing‐Yue Cao, Yi‐Feng Huang, Ye‐Lin Lan, Yu‐Li Zhao, Fu Wu, Chen‐Long Wang, Guo‐Run Tang, Jing‐Yun Ji, Zhang Zhang, Guan‐Zheng Luo   +11 more
wiley   +1 more source

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy [PDF]

, 2017
Phospholamban (PLN) p.Arg14del cardiomyopathy is associated with an increased risk of malignant ventricular arrhythmias and severe heart failure and a poor prognosis from late adolescence. It can be diagnosed in whole heart specimens, but rarely in right
Asselbergs, FW, de Boer, RA, Dooijes, D, Hoorntje, ET, Jongbloed, JDH, Suurmeijer, AJH, te Rijdt, WP, van den Berg, MP, van der Klooster, ZJ, van der Zwaag, PA, van Tintelen, JP, Vink, A   +11 more
core   +3 more sources

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source