Cargando…

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy

Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her son. Therefore, we applied a broad next-generation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kulikova, Olga, Brodehl, Andreas, Kiseleva, Anna, Myasnikov, Roman, Meshkov, Alexey, Stanasiuk, Caroline, Gärtner, Anna, Divashuk, Mikhail, Sotnikova, Evgeniia, Koretskiy, Sergey, Kharlap, Maria, Kozlova, Viktoria, Mershina, Elena, Pilus, Polina, Sinitsyn, Valentin, Milting, Hendrik, Boytsov, Sergey, Drapkina, Oxana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835827/ https://www.ncbi.nlm.nih.gov/pubmed/33478057 http://dx.doi.org/10.3390/genes12010121

Ejemplares similares

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
por: Myasnikov, Roman, et al.
Publicado: (2021)

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
por: Brodehl, Andreas, et al.
Publicado: (2021)

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
por: Myasnikov, Roman, et al.
Publicado: (2022)

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
por: Myasnikov, Roman P., et al.
Publicado: (2022)

Genetic landscape in Russian patients with familial left ventricular noncompaction
por: Meshkov, Alexey N., et al.
Publicado: (2023)

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect
por: Brodehl, Andreas, et al.
Publicado: (2019)

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly
por: Brodehl, Andreas, et al.
Publicado: (2022)

Incorporation of desmocollin‐2 into the plasma membrane requires N‐glycosylation at multiple sites
por: Brodehl, Andreas, 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)

Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin
por: Harder, Alexander, et al.
Publicado: (2013)

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study
por: Meshkov, Alexey N., et al.
Publicado: (2021)

Cystic Fibrosis Polymorphic Variants in a Russian Population
por: Kiseleva, Anna, et al.
Publicado: (2020)

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia
por: Meshkov, Alexey, et al.
Publicado: (2021)

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy
por: Schirmer, Ilona, et al.
Publicado: (2017)

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3
por: Brodehl, Andreas, et al.
Publicado: (2021)

Desmin Interacts Directly with Mitochondria
por: Dayal, Alexander A., et al.
Publicado: (2020)

Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report
por: Blokhina, Anastasia V., et al.
Publicado: (2022)

A case of sudden unexpected death of a patient with epilepsy: Continuous electrocardiographic monitoring and autopsy results
por: Serdyuk, Svetlana, et al.
Publicado: (2018)

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype
por: Limonova, Alena S., et al.
Publicado: (2021)

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey
por: Limonova, Alena S., et al.
Publicado: (2022)

Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels
por: Khlebus, Eleonora, et al.
Publicado: (2019)

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases
por: Kiseleva, Anna V., et al.
Publicado: (2020)

Scintigraphy false‐positive results for cardiac amyloidosis in a patient with Danon disease
por: Antukh, Dmitry, et al.
Publicado: (2021)

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study
por: Blokhina, Anastasia V., et al.
Publicado: (2023)

Occurrence of Neuroblastoma among TP53 p.R337H Carriers
por: Seidinger, Ana Luiza, et al.
Publicado: (2015)

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?
por: Gaertner, Anna, et al.
Publicado: (2018)

Special Issue “Cardiovascular Genetics”
por: Brodehl, Andreas, et al.
Publicado: (2021)

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region
por: Ramensky, Vasily E., et al.
Publicado: (2021)

AAV9-mediated gene transfer of desmin ameliorates cardiomyopathy in desmin-deficient mice
por: Heckmann, M B, et al.
Publicado: (2016)

The toxic effect of R350P mutant desmin in striated muscle of man and mouse
por: Clemen, Christoph S., et al.
Publicado: (2014)

MiR-337-3p Promotes Adipocyte Browning by Inhibiting TWIST1
por: Vonhögen, Indira G.C., et al.
Publicado: (2020)

Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
por: Pinto, Emilia M., et al.
Publicado: (2023)

Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p
por: Paskulin, Diego Davila, et al.
Publicado: (2015)

Pregnancy in Desmin-Related Cardiomyopathy
por: Faksh, Arij, et al.
Publicado: (2015)

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases
por: Sotnikova, Evgeniia A., et al.
Publicado: (2022)

Health Tract No. 337: Architects
Publicado: (1868)

Micro-RNA-338-3p Promotes the Development of Atherosclerosis by Targeting Desmin and Promoting Proliferation
por: Yan, Shiran, et al.
Publicado: (2021)

RBM20 mutations in left ventricular non‐compaction cardiomyopathy
por: Gaertner, Anna, et al.
Publicado: (2020)

Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes
por: Sielemann, Katharina, et al.
Publicado: (2020)

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation
por: Macedo, Gabriel S., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_0r9c9np0i5o652cuhusl53heic