Zobrazeno 1 - 10
of 285
pro vyhledávání: '"LMNA gene"'
Autor:
Xiaolin Xu, Tianying Chang, Yan Luo, Lisha Wang, Xiaodan Wang, Jiaxin Shi, Aidong Liu, Jiajuan Guo
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Dilated cardiomyopathy (DCM) remains an enigmatic myocardial disorder characterized either by enlargement of either the left or right ventricle or both and reduced contractility, posing a significant burden on pediatric populations as a leading cause
Externí odkaz:
https://doaj.org/article/2987408467194562b0183aa38dc828d4
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
ObjectiveTo characterize the cardiac phenotype associated with the novel pathogenic variant (c.1526del) of LMNA gene, which we identified in a large, six-generation family.Methods and ResultsA family tree was constructed. The clinical data of living
Externí odkaz:
https://doaj.org/article/233a7365f34b46e9918c45da7d200af2
Autor:
Hoi W. Wu, Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, Nina Ajmone Marsan
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 3, p 86 (2024)
Mutations in the LMNA-gene can cause a variety of ‘laminopathies’. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and c
Externí odkaz:
https://doaj.org/article/7b2661c41f3e4d7c917a28c9fadb7283
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 3, Pp 253-264 (2022)
Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions. Pathogenesis is based on pathogenic variants in the LMNA gene leading to a
Externí odkaz:
https://doaj.org/article/bbbbd5cb01be418299376173919843a8
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expression, and signal
Externí odkaz:
https://doaj.org/article/f303372996574dc4a390ff8bd741c43f
Publikováno v:
Jichu yixue yu linchuang, Vol 40, Iss 4, Pp 483-489 (2020)
Objective To construct an expression vector of fusion protein from wild type LMNA and mutant and the lentivirus vector of LMNA mutant, to study the expression and sublocalization of lamin A/C and the change of nucleus in HEK293 and C2C12 cells. Metho
Externí odkaz:
https://doaj.org/article/842a5e19a1ca4e0f9b3c51a9ed6b8698
Autor:
Anna Malashicheva, Kseniya Perepelina
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
A-type lamins are the main structural components of the nucleus, which are mainly localized at the nucleus periphery. First of all, A-type lamins, together with B-type lamins and proteins of the inner nuclear membrane, form a stiff structure—the nu
Externí odkaz:
https://doaj.org/article/358a1d15c674426ab141e721209e89df
Autor:
Jock Chichaco Kuruc, Armando A. Durant-Archibold, Jorge Motta, K. S. Rao, Barry Trachtenberg, Carlos Ramos, Hongyu Wang, David Gorenstein, Fredrik Vannberg, King Jordan
Publikováno v:
BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Anthracyclines are highly effective anticancer medication prescribed for the treatment of breast cancer. Nevertheless, the use of anthracyclines as chemotherapeutic agents involves a risk for development of cardiac toxicity which
Externí odkaz:
https://doaj.org/article/c13aea2961244d9aa8fcbfaad8b98605
Autor:
Carolina Cecchetti, M. Rosaria D’Apice, Elena Morini, Giuseppe Novelli, Carmine Pizzi, Uberto Pagotto, Alessandra Gambineri
Publikováno v:
Frontiers in Endocrinology, Vol 12 (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 case
Externí odkaz:
https://doaj.org/article/9412dba1acdf45628a01b84554cda34a
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.