Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

Lipodystrophies: genetic and acquired body fat disorders

A Garg - The Journal of Clinical Endocrinology & Metabolism, 2011 - academic.oup.com
Context: Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by
selective loss of body fat and predisposition to insulin resistance. The extent of fat loss …

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

M Eriksson, WT Brown, LB Gordon, MW Glynn, J Singer… - Nature, 2003 - nature.com
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by
features reminiscent of marked premature ageing,. Here, we present evidence of mutations …

The human obesity gene map: the 2005 update

T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Acquired and inherited lipodystrophies

A Garg - New England Journal of Medicine, 2004 - Mass Medical Soc
Lipodystrophies, heterogeneous acquired or inherited disorders characterized by the
selective loss of adipose tissue, predispose affected patients to insulin resistance and its …

Nuclear lamins and laminopathies

HJ Worman - The Journal of pathology, 2012 - Wiley Online Library
Nuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina
on the inner aspect of the inner nuclear membrane. Long known to be essential for …

“Laminopathies”: a wide spectrum of human diseases

HJ Worman, G Bonne - Experimental cell research, 2007 - Elsevier
Mutations in genes encoding the intermediate filament nuclear lamins and associated
proteins cause a wide spectrum of diseases sometimes called “laminopathies.” Diseases …

Nuclear lamins: building blocks of nuclear architecture

RD Goldman, Y Gruenbaum, RD Moir… - Genes & …, 2002 - genesdev.cshlp.org
Nuclear lamins were initially identified as the major components of the nuclear lamina, a
proteinaceous layer found at the interface between chromatin and the inner nuclear …

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

MRG Taylor, PR Fain, G Sinagra, ML Robinson… - Journal of the American …, 2003 - jacc.org
Objectives: We examined the prevalence, genotype-phenotype correlation, and natural
history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM) …

Human laminopathies: nuclei gone genetically awry

BC Capell, FS Collins - Nature reviews genetics, 2006 - nature.com
Few genes have generated as much recent interest as LMNA, LMNB1 and LMNB2, which
encode the components of the nuclear lamina. Over 180 mutations in these genes are …