Between Rho (k) and a hard place: the relation between vessel wall stiffness, endothelial contractility, and cardiovascular disease
S Huveneers, MJAP Daemen, PL Hordijk - Circulation research, 2015 - Am Heart Assoc
Vascular stiffness is a mechanical property of the vessel wall that affects blood pressure,
permeability, and inflammation. As a result, vascular stiffness is a key driver of (chronic) …
permeability, and inflammation. As a result, vascular stiffness is a key driver of (chronic) …
Myofibrillar myopathies
D Selcen, AG Engel - Handbook of clinical neurology, 2011 - Elsevier
Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar
morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are …
morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are …
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
A Luciani, VR Villella, S Esposito, N Brunetti-Pierri… - Nature cell …, 2010 - nature.com
Accumulation of unwanted/misfolded proteins in aggregates has been observed in airways
of patients with cystic fibrosis (CF), a life-threatening genetic disorder caused by mutations in …
of patients with cystic fibrosis (CF), a life-threatening genetic disorder caused by mutations in …
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American …
P Narayanaswami, M Weiss, D Selcen, W David… - Neurology, 2014 - AAN Enterprises
Objective: To review the current evidence and make practice recommendations regarding
the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). Methods …
the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). Methods …
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
D Selcen, F Muntoni, BK Burton, E Pegoraro… - Annals of …, 2009 - Wiley Online Library
Abstract Objective Myofibrillar myopathies (MFMs) are morphologically distinct but
genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then …
genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then …
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …
contractures, muscular dystrophy, and cardiac involvement with conduction defects and …
Phosphorylated lamin A/C in the nuclear interior binds active enhancers associated with abnormal transcription in progeria
LMNA encodes nuclear Lamin A/C that tethers lamina-associated domains (LADs) to the
nuclear periphery. Mutations in LMNA cause degenerative disorders including the …
nuclear periphery. Mutations in LMNA cause degenerative disorders including the …
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
J Senderek, SM Garvey, M Krieger… - The American Journal of …, 2009 - cell.com
Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders.
One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently …
One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently …
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
M Garieri, G Stamoulis, X Blanc… - Proceedings of the …, 2018 - National Acad Sciences
X-chromosome inactivation (XCI) provides a dosage compensation mechanism where, in
each female cell, one of the two X chromosomes is randomly silenced. However, some …
each female cell, one of the two X chromosomes is randomly silenced. However, some …
The sarcomeric Z‐disc and Z‐discopathies
R Knöll, B Buyandelger, M Lab - BioMed Research …, 2011 - Wiley Online Library
The sarcomeric Z‐disc defines the lateral borders of the sarcomere and has primarily been
seen as a structure important for mechanical stability. This view has changed dramatically …
seen as a structure important for mechanical stability. This view has changed dramatically …