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Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization

PLoS genetics, 2014-09, Vol.10 (9), p.e1004605-e1004605

2014

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Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

Circulation (New York, N.Y.), 2011-01, Vol.123 (1), p.53-61

2011

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Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

Human molecular genetics, 2020-12, Vol.29 (24), p.3919-3934

2020

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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Human molecular genetics, 2018-09, Vol.27 (17), p.3060-3078

2018

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Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

Journal of lipid research, 2017-01, Vol.58 (1), p.151-163

2017

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Risk factors and comorbidities in primary biliary cirrhosis : A controlled interview-based study of 1032 patients

Hepatology (Baltimore, Md.), 2005-11, Vol.42 (5), p.1194-1202

2005

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Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival

Human molecular genetics, 2018-07, Vol.27 (13), p.2290-2305

2018

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Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

The Journal of clinical investigation, 2007-05, Vol.117 (5), p.1282-1293

2007

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Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation

The Journal of biological chemistry, 2012-11, Vol.287 (48), p.40513-40524

2012

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The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Cell reports (Cambridge), 2021-08, Vol.36 (8), p.109601-109601, Article 109601

2021

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Correlation of initial autoantibody profile and clinical outcome in primary biliary cirrhosis

Hepatology (Baltimore, Md.), 2006-05, Vol.43 (5), p.1135-1144

2006

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Epithelial cell specificity and apotope recognition by serum autoantibodies in primary biliary cirrhosis

Hepatology (Baltimore, Md.), 2011-07, Vol.54 (1), p.196-203

2011

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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

Human molecular genetics, 2012-10, Vol.21 (19), p.4325-4333

2012

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mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice

Circulation. Heart failure, 2024-04, Vol.17 (4), p.e011110

2024

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Hepatic Steatosis in Dunnigan-Type Familial Partial Lipodystrophy

The American journal of gastroenterology, 2005-10, Vol.100 (10), p.2218-2224

2005

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Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation

Human molecular genetics, 2014-01, Vol.23 (1), p.1-11

2014

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Nucleocytoplasmic connections and deafness

The Journal of clinical investigation, 2013-02, Vol.123 (2), p.553-555

2013

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Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Human molecular genetics, 2015-04, Vol.24 (8), p.2163-2174

2015

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Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth

Human molecular genetics, 2017-01, Vol.26 (1), p.65-78

2017

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Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation

Biochemical and biophysical research communications, 2014-10, Vol.452 (4), p.958-961

2014

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Genome‐wide association study in mice identifies loci affecting liver‐related phenotypes including Sel1l influencing serum bile acids

Hepatology (Baltimore, Md.), 2016-06, Vol.63 (6), p.1943-1956

2016

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Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery–Dreifuss muscular dystrophy

Human molecular genetics, 2006-08, Vol.15 (16), p.2479-2489

2006

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Acute liver injury associated with a newer formulation of the herbal weight loss supplement Hydroxycut

BMJ case reports, 2015-05, Vol.2015, p.bcr2015210303

2015

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Perturbation of nuclear lamin A causes cell death in chondrocytes

Arthritis & rheumatology (Hoboken, N.J.), 2012-06, Vol.64 (6), p.1940-1949

2012

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Peroxisome Proliferator-Activated Receptor-γ C190S Mutation Causes Partial Lipodystrophy

The journal of clinical endocrinology and metabolism, 2007-06, Vol.92 (6), p.2248-2255

2007

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Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization

Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy

Risk factors and comorbidities in primary biliary cirrhosis : A controlled interview-based study of 1032 patients

Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Correlation of initial autoantibody profile and clinical outcome in primary biliary cirrhosis

Epithelial cell specificity and apotope recognition by serum autoantibodies in primary biliary cirrhosis

Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

mTOR Inhibition Prolongs Survival and Has Beneficial Effects on Heart Function After Onset of Lamin A/C Gene Mutation Cardiomyopathy in Mice

Hepatic Steatosis in Dunnigan-Type Familial Partial Lipodystrophy

Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation

Nucleocytoplasmic connections and deafness

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Lamina-associated polypeptide 1 is dispensable for embryonic myogenesis but required for postnatal skeletal muscle growth

Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation

Genome‐wide association study in mice identifies loci affecting liver‐related phenotypes including Sel1l influencing serum bile acids

Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery–Dreifuss muscular dystrophy

Acute liver injury associated with a newer formulation of the herbal weight loss supplement Hydroxycut

Perturbation of nuclear lamin A causes cell death in chondrocytes

Peroxisome Proliferator-Activated Receptor-γ C190S Mutation Causes Partial Lipodystrophy

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