Cargando…

A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Botto, Nicoletta, Vittorini, Simona, Colombo, Maria Giovanna, Biagini, Andrea, Paradossi, Umberto, Aquaro, Giovanni, Andreassi, Maria Grazia
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Case report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859370/ https://www.ncbi.nlm.nih.gov/pubmed/20307303 http://dx.doi.org/10.1186/1476-7120-8-9

Ejemplares similares

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
por: Colombo, Maria Giovanna, et al.
Publicado: (2008)

LMNA-related dilated cardiomyopathy
por: Vaikhanskaya, Tatiyana, et al.
Publicado: (2014)

Consequences of Lmna Exon 4 Mutations in Myoblast Function
por: Gómez-Domínguez, Déborah, et al.
Publicado: (2020)

Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy
por: Zhang, Xiaolin, et al.
Publicado: (2021)

Activation of PDGF Pathway Links LMNA Mutation to Dilated Cardiomyopathy
por: Lee, Jaecheol, et al.
Publicado: (2019)

Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
por: Echigoya, Yusuke, et al.
Publicado: (2018)

Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy
por: Messner, Moritz, et al.
Publicado: (2018)

LMNA Gene Mutation Presenting with Ventricular Tachycardia in the Absence of Dilated Cardiomyopathy
por: Poudel, Binod, et al.
Publicado: (2022)

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
por: Zahr, Hind C., et al.
Publicado: (2018)

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation
por: Adadi, Najlae, et al.
Publicado: (2018)

W+W- Production in e+e- Collision at 189 GeV
por: CERN. Geneva
Publicado: (1999)

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies
por: Saj, Michal, et al.
Publicado: (2013)

Modeling of LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cells
por: Shah, Disheet, et al.
Publicado: (2019)

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study
por: Banerjee, Avinanda, et al.
Publicado: (2015)

LMNA-mutated Rabbits: A Model of Premature Aging Syndrome with Muscular Dystrophy and Dilated Cardiomyopathy
por: Sui, Tingting, et al.
Publicado: (2019)

Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study
por: MacRae, Calum A., et al.
Publicado: (2022)

Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy
por: Campbell, Nzali, et al.
Publicado: (2013)

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
por: Magno, Silvia, et al.
Publicado: (2020)

Colour reconnection studies in $e^+e^-$ - W+W- at $\sqrt{s}$=189 GeV
por: CERN. Geneva
Publicado: (1999)

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations
por: Le Dour, Caroline, et al.
Publicado: (2022)

An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation
por: Jadhav, Khushal B., et al.
Publicado: (2012)

Identification of Target Genes and Transcription Factors in Mice with LMNA-Related Dilated Cardiomyopathy by Integrated Bioinformatic Analyses
por: Zhou, Honghua, et al.
Publicado: (2020)

Investigating LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
por: Shemer, Yuval, et al.
Publicado: (2021)

$W^{+}W^{-}$ Production Cross Section and W Branching Fractions in $e^{+}e^{-}$ Collisions at 189 GeV
por: Abbiendi, G., et al.
Publicado: (2000)

Colour reconnection in $e^{+}e^{-} \rightarrow W^{+}W^{-}$ at $\sqrt{s}=189-209 GeV$
por: Abbiendi, G., et al.
Publicado: (2005)

Spin density matrix analysis of the reaction $e^{+}e^{-}\to W^{+}W^{-}$ at 189 GeV
por: De Clercq, C, et al.
Publicado: (2001)

HotSpot Wizard: a web server for identification of hot spots in protein engineering
por: Pavelka, Antonin, et al.
Publicado: (2009)

Biodiversity hot spot on a hot spot: novel extremophile diversity in Hawaiian fumaroles
por: Wall, Kate, et al.
Publicado: (2015)

Case series: LMNA‐related dilated cardiomyopathy presents with reginal wall akinesis and transmural late gadolinium enhancement
por: Wang, Shuai, et al.
Publicado: (2020)

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
por: Lee, Chelsea, et al.
Publicado: (2022)

Systematic in vivo candidate evaluation uncovers therapeutic targets for LMNA dilated cardiomyopathy and risk of Lamin A toxicity
por: Tan, Chia Yee, et al.
Publicado: (2023)

Yellowstone Hot Springs are Organic Chemodiversity Hot Spots
por: Gonsior, Michael, et al.
Publicado: (2018)

Epigenetics in LMNA-Related Cardiomyopathy
por: Wang, Yinuo, et al.
Publicado: (2023)

Hot spots discussed at Bonn
Publicado: (1979)

DESY: Hot spots in the nucleon?
Publicado: (1990)

Hot spots discussed at Bonn
por: Weiner, Richard M
Publicado: (1979)

Identifying Malaria Hot Spots
por: White, Nicholas J
Publicado: (2017)

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
por: Hussain, Iram, et al.
Publicado: (2020)

Measurements of the W^+W^- production cross section using 189 GeV data with the DELPHI detector
por: Chierici, R
Publicado: (1999)

Measurement of the W-pair Production Cross-section and W Branching Ratios at sqrt(s) = 189 GeV
por: Buschmann, P, et al.
Publicado: (1999)

Cannot write session to /tmp/vufind_sessions/sess_20mqr827q9s4vl32f5e44kcq0t