The wide and growing range of lamin B-related diseases: from laminopathies to cancer

C Evangelisti, I Rusciano, S Mongiorgi… - Cellular and Molecular …, 2022 - Springer
B-type lamins are fundamental components of the nuclear lamina, a complex structure that
acts as a scaffold for organization and function of the nucleus. Lamin B1 and B2, the most …

Epilepsy genetics: current knowledge, applications, and future directions

KA Myers, DL Johnstone, DA Dyment - Clinical genetics, 2019 - Wiley Online Library
The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

A Janin, D Bauer, F Ratti, G Millat, A Méjat - Orphanet journal of rare …, 2017 - Springer
Since the identification of the first disease causing mutation in the gene coding for emerin, a
transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants …

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

DA Parry, CA Martin, P Greene, JA Marsh, M Blyth… - Genetics in …, 2021 - nature.com
Purpose Lamins are the major component of nuclear lamina, maintaining structural integrity
of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders …

Alzheimer's disease: An acquired neurodegenerative laminopathy

B Frost - Nucleus, 2016 - Taylor & Francis
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 …

Genetic variations associated with pharmacoresistant epilepsy

N Cárdenas-Rodríguez… - Molecular …, 2020 - spandidos-publications.com
Epilepsy is a common, serious neurological disorder worldwide. Although this disease can
be successfully treated in most cases, not all patients respond favorably to medical …

Lamin in inflammation and aging

JR Tran, H Chen, X Zheng, Y Zheng - Current opinion in cell biology, 2016 - Elsevier
Aging is characterized by a progressive loss of tissue function and an increased
susceptibility to injury and disease. Many age-associated pathologies manifest an …

Complex effects of laminopathy mutations on nuclear structure and function

R Ho, RA Hegele - Clinical Genetics, 2019 - Wiley Online Library
The nuclear lamins are important members of the intermediate filament (IF) family of
proteins, involved in structural support and regulation of the nuclear lamina. Different …

Role of the nuclear lamina in age-associated nuclear reorganization and inflammation

L Kristiani, M Kim, Y Kim - Cells, 2020 - mdpi.com
Aging is characterized by the gradual loss of tissue function and integrity. Activation of
inflammatory responses accelerates the deterioration of cells and tissues. Many studies …

LMNB2 promotes the progression of colorectal cancer by silencing p21 expression

CH Dong, T Jiang, H Yin, H Song, Y Zhang… - Cell Death & …, 2021 - nature.com
Colorectal cancer is the second common cause of death worldwide. Lamin B2 (LMNB2) is
involved in chromatin remodeling and the rupture and reorganization of nuclear membrane …