Results 81 to 90 of about 18,190 (215)

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

Терапевтический архив, 2015
Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis
E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov   +3 more
doaj  

Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

Biochemistry and Biophysics Reports, 2020
Cardiomyopathy caused by A-type lamins gene (LMNA) mutations (LMNA cardiomyopathy) is associated with dysfunction of the heart, often leading to heart failure. LMNA cardiomyopathy is highly penetrant with bad prognosis with no specific therapy available.
Blanca Morales Rodriguez, Alejandro Domínguez-Rodríguez, Jean-Pierre Benitah, Florence Lefebvre, Thibaut Marais, Nathalie Mougenot, Philippe Beauverger, Gisèle Bonne, Véronique Briand, Ana-María Gómez, Antoine Muchir   +10 more
doaj   +1 more source

TOP2A Maintains Heterochromatin Stability by Sustaining LMNB1 Expression to Counteract Senescence

Aging Cell, Volume 25, Issue 11, November 2026.
Depletion of TOP2A accelerates MSC senescence and disrupts heterochromatin integrity. TOP2A directly regulates LMNB1 expression to maintain MSC nuclear integrity and epigenomic stability. Overexpression of TOP2A counteracts MSC senescence through Lamin B1‐mediated chromatin reorganization and epigenomic stabilization.
Ke Cheng, Yaru Wang, Yueyuan Pan, Wenjun Zhang, Denghong Yu, Qi Zhou, Zhiqian Zhong, Ruyi Mei, Chaoliang Xu, Ayidana Hayierhan, Yumei Ma, Yien Xu, Qingdong Xie, Pingnan Sun, Junzhi Zhou, Xiaoling Zhou   +15 more
wiley   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy

JACC: Case Reports
Variants in the LMNA gene (which encodes intermediate filaments lamin A and lamin C) result in a variety of phenotypes that include overlapping features, such as progeroid syndromes, muscular dystrophies, peripheral neuropathies, lipodystrophies, and cardiac disease (including dilated cardiomyopathy and conduction disorders).We describe a case of ...
Sterner, Rosalie M., Coon, Lea M., Black, John L., Moyer, Ann M., Maleszewski, Joseph J., Baudhuin, Linnea M.   +5 more
openaire   +3 more sources

A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome

Adipocyte, 2019
We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA ...
Zhe Wang, Yueting Dong, Jing Yang, Yingzi He, Xihua Lin, Fang Wu, Hong Li, Fenping Zheng   +7 more
doaj   +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

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]

PLoS ONE, 2015
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong   +8 more
doaj   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, Volume 110, Issue 5, Page 622-626, November 2026.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source

Transgenic expression of lamin A in Lmna^−/− cardiomyocytes results in partial restoration of desmin phenotype but not cardiac remodeling markers.

, 2012
(A) Western blot analysis of Lmna+/+, Lmna−/−, and Lmna−/−; Tg whole heart lysates. Desmin is increased in Lmna−/− heart lysates compared to Lmna+/+ and is partially attenuated in Lmna−/−; Tg mice (middle blot).
Carmen Lau (143381), Peter S. Rabinovitch (143397), Antoine Muchir (143385), Dao-Fu Da (143377), Diana N. Pak (143383), Steven C. Chen (143374), Howard J. Worman (143387), Christina Brown (143382), Richard L. Frock (143372), Warren C. Ladiges (143394), Luis F. Santana (143390), Ellie Frett (143379), Yuexia Wang (143384), Brian K. Kennedy (79500)   +13 more
core   +1 more source

Consequences of Lmna Exon 4 Mutations in Myoblast Function [PDF]

, 2020
Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Bertrand, Anne T., Amarilla-Quintana, Sandra, Miguel A Rodríguez-Milla, Sandra Amarilla-Quintana, Albert García Castaño, Martin, Alberto, Rodríguez-Milla, Miguel, A, Ramón-Azcón, Javier, Miguel Pedrero, Fernando de, Amarilla Quintana, Sandra, Gisèle Bonne, Epifano, Carolina, Anne T Bertrand, García Castaño, Albert, Bonne, Gisèle, Vilaplana Martí, Borja, Gómez Domínguez, Déborah, Ramón Azcón, Javier, Perez de Castro, Ignacio, Déborah Gómez-Domínguez, Alberto Martín, Borja Vilaplana-Martí, Ignacio Pérez de Castro, Gomez-Dominguez, Deborah, Javier Ramón-Azcón, Bertrand, Anne, T, de Miguel, Fernando, Carolina Epifano, Fernando de Miguel, Castaño, Albert García, Bertrand, Anne T, Vilaplana-Marti, Borja, Rodríguez Milla, Miguel Á., Rodriguez-Milla, Miguel A, Miguel, Fernando De   +34 more
core   +1 more source