Results 91 to 100 of about 473 (164)
Clinical and diagnostic difficulties in management of patients with laminopathies
Российский кардиологический журнал, 2019 Mutations in the LMNA gene cause developing of several phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination.
O. V. Melnik +11 more
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The Structural Basis of ZMPSTE24-Dependent Laminopathies
Science, 2013 Lamin Loppers The nuclear lamina provides mechanical stability to the nuclear envelope and is involved in regulation of cellular processes such as DNA replication. Defects in the nuclear lamina lead to diseases such as progeria and metabolic disorders.
Quigley, A +13 more
openaire +2 more sources
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
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Chromatin dysfunction in stem cells facilitates aging in laminopathy-based progeria
, 2023 Nuclear lamins, including A- and B-type lamins, are type V intermediate filament (IF) proteins that are ubiquitously expressed in vertebrates. A variety of human diseases are caused by LMNA mutations, collectively called laminopathies.
金威, Jin, Wei
core
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
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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
, 2017 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in the LMNA gene, resulting in production of a truncated farnesylated-prelamin A protein (progerin).We previously reported that XPAmislocalized to ...
Maya Breitman +21 more
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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
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, 2011 Laminopathies constitute a family of disease caused by mutations in the lamin proteins which includes lamin A/C and lamin B1/2. Recently, a new type of laminopathy characterised by inherited heart disease and limb abnormalities was identified.
Chua, Bernice Hong Min.
core
, 2011 Fibroblasts from patients with the severe laminopathy diseases, Restrictive Dermopathy (RD) & Hutchinson Gilford Progeria Syndrome (HGPS), are characterised by poor growth in culture, the presence of abnormally shaped nuclei and the accumulation of DNA ...
Shane A. Richards +9 more
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