Cargando…

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

A single missense variant of the TMPO/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three novel rare TMP...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vadrot, Nathalie, Ader, Flavie, Moulin, Maryline, Merlant, Marie, Chapon, Françoise, Gandjbakhch, Estelle, Labombarda, Fabien, Maragnes, Pascale, Réant, Patricia, Rooryck, Caroline, Probst, Vincent, Donal, Erwan, Richard, Pascale, Ferreiro, Ana, Buendia, Brigitte
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9857342/ https://www.ncbi.nlm.nih.gov/pubmed/36672271 http://dx.doi.org/10.3390/cells12020337

Ejemplares similares

Alternative splicing and co-option of transposable elements: the case of TMPO/LAP2α and ZNF451 in mammals
por: Abascal, Federico, et al.
Publicado: (2015)

Abnormal left atrial compliance is associated with a history of life-threatening arrhythmia in corrected Tetralogy of Fallot
por: Vautier, Mathilde, et al.
Publicado: (2023)

Sport resumption and quality of life after surgical correction of anomalous origin of a coronary artery from the opposite sinus
por: André, Camille-Océane, et al.
Publicado: (2023)

TMPO-AS1 promotes cell proliferation of thyroid cancer via sponging miR-498 to modulate TMPO
por: Li, Zhenyu, et al.
Publicado: (2020)

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia
por: Fedida, Joel, et al.
Publicado: (2017)

Three dimensional echocardiographic assessment of multiple rhabdomyoma in newborn
por: Hodzic, A, et al.
Publicado: (2013)

Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy
por: Bargui, Rezlène, et al.
Publicado: (2023)

LncRNA TMPO-AS1 promotes esophageal squamous cell carcinoma progression by forming biomolecular condensates with FUS and p300 to regulate TMPO transcription
por: Luo, Xiao-Jing, et al.
Publicado: (2022)

The Triple‐Tracer strategy against Metastatic PrOstate cancer (3TMPO) study protocol
por: Pouliot, Frédéric, et al.
Publicado: (2021)

Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants
por: Ader, Flavie, et al.
Publicado: (2022)

Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys)
por: González-Garrido, Antonia, et al.
Publicado: (2022)

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus
por: Barateau, Alice, et al.
Publicado: (2017)

Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis
por: Proukhnitzky, Julie, et al.
Publicado: (2020)

Supraspinatus pocket: An alternative pacemaker location for patients with no prepectoral access
por: Abehsira, Guillaume, et al.
Publicado: (2016)

The final lap…
por: Manohar, Balaji
Publicado: (2013)

Lap-Robotics
Publicado: (2015)

Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts
por: Vite, Alexia, et al.
Publicado: (2013)

Effect of the Lapping Platen Groove Density on the Characteristics of Microabrasive-Based Lapping
por: Lee, Taekyung, et al.
Publicado: (2020)

Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
por: Gerard, Hilla, et al.
Publicado: (2022)

Signal processing with lapped transforms
por: Malvar, Henrique S
Publicado: (1992)

Pseudomonas putida Fis Binds to the lapF Promoter In Vitro and Represses the Expression of LapF
por: Lahesaare, Andrio, et al.
Publicado: (2014)

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation
por: Blancard, Malorie, et al.
Publicado: (2018)

Tissue Doppler echocardiographic quantification. Comparison to coronary angiography results in Acute Coronary Syndrome patients
por: Donal, Erwan, et al.
Publicado: (2005)

Proliferation‐associated long noncoding RNA, TMPO‐AS1, is a potential therapeutic target for triple‐negative breast cancer
por: Mitobe, Yuichi, et al.
Publicado: (2020)

LncRNA TMPO-AS1 Promotes Proliferation and Invasion by Sponging miR-383-5p in Glioma Cells
por: Liu, Guoyuan, et al.
Publicado: (2020)

TMPO-AS1 Regulates the Aggressiveness-Associated Traits of Nasopharyngeal Carcinoma Cells Through Sponging miR-320a
por: Xing, Biao, et al.
Publicado: (2021)

LncRNA TMPO-AS1 suppresses the maturation of miR-335-5p to participate in polycystic ovary syndrome
por: Hou, Fang, et al.
Publicado: (2021)

My approach to ventricular tachycardia ablation in patient with arrhythmogenic right ventricular cardiomyopathy/dysplasia
por: Waintraub, Xavier, et al.
Publicado: (2020)

Applications of the Stochastic LapH Method
por: Bulava, John, et al.
Publicado: (2013)

Non-canonical autophagy LAPs lupus
por: Simon, A K, et al.
Publicado: (2016)

A medullary centre for lapping in mice
por: Dempsey, Bowen, et al.
Publicado: (2021)

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
por: Fichtman, Boris, et al.
Publicado: (2019)

Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient
por: Barateau, Alice, et al.
Publicado: (2017)

Reversible mechanical atrioventricular block during cryoablation for paroxysmal atrial fibrillation with a 28 mm balloon
por: Fedida, Joël, et al.
Publicado: (2018)

Automatic Swimming Activity Recognition and Lap Time Assessment Based on a Single IMU: A Deep Learning Approach
por: Delhaye, Erwan, et al.
Publicado: (2022)

Prospective mixed-methods study of patients undergoing relaparotomy (ReLap study; DRKS00013001)
por: Tran, Dinh Thien-An, et al.
Publicado: (2018)

Secreted Listeria adhesion protein (Lap) influences Lap-mediated Listeria monocytogenes paracellular translocation through epithelial barrier
por: Kim, Hyochin, et al.
Publicado: (2013)

The Effects of Anti-LAP Monoclonal Antibody Down-regulation of CD4+LAP+ T Cells on Allogeneic Corneal Transplantation in Mice
por: Li, Shang, et al.
Publicado: (2018)

Homologs of the LapD-LapG c-di-GMP Effector System Control Biofilm Formation by Bordetella bronchiseptica
por: Ambrosis, Nicolás, et al.
Publicado: (2016)

lncRNA TMPO-AS1 Exerts Oncogenic Roles in HCC Through Regulating miR-320a/SERBP1 Axis
por: Wang, Zhenchang, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_v82nc4mjci08gerpsou3p33e5a