Results 111 to 120 of about 2,390 (199)
Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective SteatohepatitisSummary
Cellular and Molecular Gastroenterology and Hepatology, 2017 Background & Aims: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging
Raymond Kwan +11 more
doaj +1 more source
Resveratrol: a Sirtuin Activator and the Fountain of Youth [PDF]
, 2015 BACKGROUND: An organism\u27s lifespan is inevitably accompanied by the aging process, which involves functional decline, a steady increase of a plethora of chronic diseases, and ultimately death.
Dewi, N. M. (Nurrani) +2 more
core +4 more sources
BMC Cardiovascular Disorders, 2019 Background Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD). Various clinical features
Tetsuro Yokokawa +12 more
doaj +1 more source
Inflammatory myopathy in the context of an unusual overlapping laminopathy
Archives of Endocrinology and Metabolism, 2018 Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial ...
Cristina Guillín-Amarelle +8 more
doaj +1 more source
The genetics of lipid storage and human lipodystrophies. [PDF]
, 2015 Life depends on securing sufficient energy intake to enable growth, movement, and reproduction. Throughout evolution, lifeforms have struggled to ensure adequate energy intake, and this remains a major challenge for many species.
Robbins, Ann L, Savage, David B
core +2 more sources
Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency.
PLoS Biology, 2020 The nuclear lamina protein lamin A/C is a key component of the nuclear envelope. Mutations in the lamin A/C gene (LMNA) are identified in patients with various types of laminopathy-containing diseases, which have features of accelerated aging and ...
Lei Xiong +8 more
doaj +1 more source
Panel 3 : Genetics and Precision Medicine of Otitis Media [PDF]
, 2017 Objective. The objective is to perform a comprehensive review of the literature up to 2015 on the genetics and precision medicine relevant to otitis media. Data Sources. PubMed database of the National Library of Medicine. Review Methods.
Brown, Steve +9 more
core +1 more source
Alzheimer's disease: An acquired neurodegenerative laminopathy [PDF]
Nucleus, 2016 The nucleus is typically depicted as a sphere encircled by a smooth surface of nuclear envelope. For most cell types, this depiction is accurate. In other cell types and in some pathological conditions, however, the smooth nuclear exterior is interrupted by tubular invaginations of the nuclear envelope, often referred to as a "nucleoplasmic reticulum,"
openaire +2 more sources
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy [PDF]
, 2013 BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC).
Antonio Varone +10 more
core +1 more source
The T.O.S.C.A. Project: Research, Education and Care [PDF]
, 2011 Despite recent and exponential improvements in diagnostic- therapeutic pathways, an existing “GAP” has been revealed between the “real world care” and the “optimal care” of patients with chronic heart failure (CHF). We present the T.O.S.CA.
Arcopinto, M +53 more
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