Cargando…

Primary desminopathies

Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Skeletal and cardiac muscle from patients with primary desminopathies characteristically display cytoplasmic accumulation of desmin-immunorea...

Descripción completa

Detalles Bibliográficos
Autores principales:	Schröder, Rolf, Vrabie, Alexandra, Goebel, Hans H
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2007
Materias:	Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922350/ https://www.ncbi.nlm.nih.gov/pubmed/17635637 http://dx.doi.org/10.1111/j.1582-4934.2007.00057.x

Ejemplares similares

Desminopathies: pathology and mechanisms
por: Clemen, Christoph S., et al.
Publicado: (2012)

Generation of desminopathy in rats using CRISPR‐Cas9
por: Langer, Henning T., et al.
Publicado: (2020)

Early detection of cardiac involvement of desminopathy by cardiovascular magnetic resonance
por: Faber, Martyna, et al.
Publicado: (2022)

AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies
por: Ruppert, T., et al.
Publicado: (2020)

Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions
por: Lutokhina, Yulia, et al.
Publicado: (2022)

Phenotypic variability within the desminopathies: A case series of three patients
por: Yeow, Dennis, et al.
Publicado: (2023)

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy
por: Fan, Peng, et al.
Publicado: (2019)

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy
por: Boulé, Stéphane, et al.
Publicado: (2015)

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
por: McLaughlin, Heather M, et al.
Publicado: (2013)

Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice
por: Stöckigt, Florian, et al.
Publicado: (2020)

N-Acetyl-L-Cysteine Prevents Stress-Induced Desmin Aggregation in Cellular Models of Desminopathy
por: Segard, Bertrand-David, et al.
Publicado: (2013)

Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy
por: Cabet, Eva, et al.
Publicado: (2015)

Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy
por: Li, Huanyin, et al.
Publicado: (2016)

The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice
por: Haug, Michael, et al.
Publicado: (2019)

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
por: Kubánek, Miloš, et al.
Publicado: (2020)

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
por: Takegami, Naoki, et al.
Publicado: (2023)

Co-semigroups and applications
por: Vrabie, Ioan I
Publicado: (2003)

Cardiovascular Disease as a Consequence or a Cause of Cancer: Potential Role of Extracellular Vesicles
por: Badila, Elisabeta, et al.
Publicado: (2023)

Applied analysis and differential equations
por: Cârj, Ovidiu, et al.
Publicado: (2007)

Study of Exercise Capacity and Quality of Life after SARS-CoV-2 Infection among the Elderly
por: Vrabie, Diana, et al.
Publicado: (2023)

Viability, invariance and applications
por: Carja, Ovidiu, et al.
Publicado: (2007)

Long-standing iron-deficiency anemia in an atypical celiac disease – a case report
por: Dina, I, et al.
Publicado: (2014)

Links between Metabolic Syndrome and Hypertension: The Relationship with the Current Antidiabetic Drugs
por: Stanciu, Silviu, et al.
Publicado: (2023)

Machine learning techniques on homological persistence features for prostate cancer diagnosis
por: Rammal, Abbas, et al.
Publicado: (2022)

Delay differential evolutions subjected to nonlocal initial conditions
por: Burlică, Monica-Dana, et al.
Publicado: (2016)

Is There an Indication for First Line Radiotherapy in Primary CNS Lymphoma?
por: Seidel, Clemens, et al.
Publicado: (2021)

Incidental case of primary renal lymphoma (PRL) in a patient with chronic hepatitis C infection. Report of a rare case
por: Liţescu, Mircea, et al.
Publicado: (2020)

Early Postendoscopic Transverse Colo-Colonic Intussusception
por: He, Harry, et al.
Publicado: (2020)

Mechanisms of Resistance to CDK4/6 Inhibitors and Predictive Biomarkers of Response in HR+/HER2-Metastatic Breast Cancer—A Review of the Literature
por: Stanciu, Ioana-Miruna, et al.
Publicado: (2023)

Highlighting peritumoral areas in human skin cancer biopsies by infrared micro-spectroscopy
por: Sebiskveradze, David, et al.
Publicado: (2013)

Cognitive impairment in manic bipolar patients: important, understated, significant aspects
por: Vrabie, Mădălina, et al.
Publicado: (2015)

Recent data and developments in myositis
por: Stenzel, Werner, et al.
Publicado: (2021)

Lumbar Spine Injuries: Primary Prevention in Amateur and Professional Golf Players
por: Goebel, Dietmar, et al.
Publicado: (2018)

A major pain in the … Back and epigastrium: an unusual case of spontaneous celiac artery dissection
por: Patel, Kumkum Sarkar, et al.
Publicado: (2014)

The Molecular Pathway of Argon-Mediated Neuroprotection
por: Ulbrich, Felix, et al.
Publicado: (2016)

Carbon monoxide in intensive care medicine—time to start the therapeutic application?!
por: Goebel, Ulrich, et al.
Publicado: (2020)

In vivo models of primary brain tumors: pitfalls and perspectives
por: Huszthy, Peter C., et al.
Publicado: (2012)

Impact of COVID-19 on fertility and assisted reproductive technology (ART): a systematic review
por: Săndulescu, Maria Sidonia, et al.
Publicado: (2022)

Metabolic Responses of Primary and Transformed Cells to Intracellular Listeria monocytogenes
por: Gillmaier, Nadine, et al.
Publicado: (2012)

Neoadjuvant Therapy for Primary Resectable Retroperitoneal Sarcomas—Looking Forward
por: Istl, Alexandra C., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_uschldot1jt58smnooa56ffd4s