Results 101 to 110 of about 24,019 (217)

Exploring and Validating the Molecular Mechanisms Linking Fatty Acid Metabolism and Sarcopenia

IET Systems Biology, Volume 20, Issue 1, January/December 2026.
This study provides reference for fatty acid metabolism related potential candidate genes for sarcopenia and initially creates an effective machine learning models for further investigating the direction of the mechanism level. ABSTRACT Sarcopenia is an ageing‐related disease characterised primarily by skeletal muscle functional decline.
Ruopeng Yang, Shan Gu, Yang Li, Ping Xia
wiley   +1 more source

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Cells, 2020
Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle ...
Héléna Mosbah, Camille Vatier, Franck Boccara, Isabelle Jéru, Olivier Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno Donadille, Elisabeth Sarrazin, Sophie Benabbou, Jocelyn Inamo, Stéphane Ederhy, Ariel Cohen, Barbara Neraud, Pascale Richard, Fabien Picard, Sophie Christin-Maitre, Alban Redheuil, Karim Wahbi, Corinne Vigouroux   +19 more
doaj   +1 more source

Efficient CRISPR-Cas9 mediated gene disruption in primary erythroid progenitor cells [PDF]

, 2016
The study of isolated primary progenitor cells offers great insight into developmental biology and human disease. In particular, ex vivo culture of isolated primary erythroid progenitor cells replicates the differentiation events that occur during in ...
Eng, Jennifer C., Huang, Nai-Jia, Li, Hojun, Lodish, Harvey F, Natarajan, Anirudh, Pishesha, Novalia, Shi, Jiahai   +6 more
core   +3 more sources

Lamin A/C deficiency-mediated ROS elevation contributes to pathogenic phenotypes of dilated cardiomyopathy in iPSC model

Nature Communications
Mutations in the nuclear envelope (NE) protein lamin A/C (encoded by LMNA), cause a severe form of dilated cardiomyopathy (DCM) with early-onset life-threatening arrhythmias.
Hangyuan Qiu, Yaxun Sun, Xiaochen Wang, Tingyu Gong, Jun Su, Jiaxi Shen, Jingjun Zhou, Jiafeng Xia, Hao Wang, Xiangfu Meng, Guosheng Fu, Donghui Zhang, Chenyang Jiang, Ping Liang   +13 more
doaj   +1 more source

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

International Journal of Cardiology: Heart & Vasculature, 2015
Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions.
Avinanda Banerjee, Pradip K. Ghoshal, Kaushik Sengupta   +2 more
doaj   +1 more source

Genetic variants and the metabolic syndrome: a systematic review [PDF]

, 2011
Several candidate gene studies on the metabolic syndrome (MetS) have been conducted. However, for most single nucleotide polymorphisms (SNPs) no systematic review on their association with MetS exists.
Boer, J.M., Feskens, E.J.M., Povel, C.M.
core   +3 more sources

Evidence for the involvement of lipid rafts localized at the ER-mitochondria associated membranes in autophagosome formation [PDF]

, 2016
Mitochondria-associated membranes (MAMs) are subdomains of the endoplasmic reticulum (ER) that interact with mitochondria. This membrane scrambling between ER and mitochondria appears to play a critical role in the earliest steps of autophagy.
Faggioni, Alberto, Gambardella, Lucrezia, Garofalo, Tina, Malorni, Walter, Manganelli, Valeria, Marconi, Matteo, Matarrese, Paola, Misasi, Roberta, Sorice, Maurizio, Tinari, Antonella   +9 more
core   +2 more sources

A Perspective on the Experimental Techniques for Studying Lamins [PDF]

, 2017
3Lamins are type V intermediate filaments that collectively form a meshwork underneath the inner nuclear membrane, called nuclear lamina. Furthermore, they are also present in the nucleoplasm.
Daniele Borin, Ilaria Pecorari, Orfeo Sbaizero   +2 more
core   +1 more source

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Revista Portuguesa de Cardiologia, 2017
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated ...
Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito   +5 more
doaj   +1 more source

遺伝子変異による先天性筋線維タイプ不均等症に関する検討 [PDF]

, 2013
博士（医学） 甲第566号（主論文の要旨、要約）博士（医学 ...
梶野 幸子
core   +1 more source