Results 71 to 80 of about 3,036 (198)
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz +58 more
wiley +1 more source
ESC Heart FailureAims LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futility without safety ...
Pablo Garcia‐Pavia +12 more
doaj +1 more source
The role of inner nuclear membrane protein emerin in myogenesis
The FASEB Journal, Volume 39, Issue 7, 15 April 2025.Emerin function is critical for proper genome reorganization and temporal gene expression necessary for terminal myogenic differentiation. Emerin interacts with both HDAC3 and histone methyltransferases (HMTs) to organize chromatin at the inner nuclear membrane.
Nicholas Marano, James M. Holaska
wiley +1 more source
Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies
Nucleus, 2020 Decades of studies have established that nuclear lamin polymers form the nuclear lamina, a protein meshwork that supports the nuclear envelope structure and tethers heterochromatin to the nuclear periphery.
Sunny Yang Liu, Kohta Ikegami
doaj +1 more source
Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2
Cells, 2020 Laminopathies are rare and heterogeneous diseases affecting one to almost all tissues, as in Progeria, and sharing certain features such as metabolic disorders and a predisposition to atherosclerotic cardiovascular diseases.
Alice-Anaïs Varlet +2 more
doaj +1 more source
The wide and growing range of lamin B-related diseases: from laminopathies to cancer [PDF]
, 2022 Camilla Evangelisti +7 more
openalex +1 more source
The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype
Frontiers in Cell and Developmental Biology, 2018 Lamin A and lamin C isoforms of the gene LMNA are major structural and mechanotransductive components of the nuclear lamina. Previous reports have proposed lamin A as the isoform with the most dominant contributions to cellular mechanophenotype. Recently,
Rafael D. González-Cruz +3 more
doaj +1 more source
The laminopathies: nuclear structure meets disease
Current Opinion in Genetics & Development, 2003 Most inherited diseases are associated with mutations in a specific gene. Sometimes, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases.
Cancer and Developmental Biology Laboratory, National Cancer Institute at Frederick, PO Box B, Frederick, Maryland 21702, USA ( host institution ) +4 more
openaire +3 more sources
European Journal of Heart Failure, Volume 27, Issue 9, Page 1788-1792, September 2025.
Shunsuke Inoue +19 more
wiley +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