Cargando…

Deletion of entire LMNA gene as a cause of cardiomyopathy

Detalles Bibliográficos
Autores principales:	Cirino, Allison L., Cuddy, Sarah, Lakdawala, Neal K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7360979/ https://www.ncbi.nlm.nih.gov/pubmed/32695585 http://dx.doi.org/10.1016/j.hrcr.2020.03.008

Ejemplares similares

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

Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype‐Positive
por: Castrini, Anna I., et al.
Publicado: (2022)

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

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

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

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

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

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)

Development of anthracycline-induced dilated cardiomyopathy due to mutation on LMNA gene in a breast cancer patient: a case report
por: Kuruc, Jock Chichaco, et al.
Publicado: (2019)

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

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene
por: Zhou, Yujia, et al.
Publicado: (2021)

Deletion of the Lmna gene in fibroblasts causes senescence-associated dilated cardiomyopathy by activating the double-stranded DNA damage response and induction of senescence-associated secretory phenotype
por: Rouhi, Leila, et al.
Publicado: (2022)

Cardiac Complications of Pregnancy in Desmoplakin Cardiomyopathy
por: Duncan, Madeline E., et al.
Publicado: (2023)

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

Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome
por: Doh, Yun Jeong, et al.
Publicado: (2009)

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine
por: Lu, Jonathan T., et al.
Publicado: (2011)

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

Refractory ventricular arrhythmia in a patient with Lamin A/C (LMNA) cardiomyopathy successfully treated with thoracic bilateral stellate ganglionectomy
por: Okeagu, Eze, et al.
Publicado: (2021)

Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy
por: Morales Rodriguez, Blanca, et al.
Publicado: (2020)

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs
por: Brayson, Daniel, et al.
Publicado: (2017)

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

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis
por: Sahinoz, Melis, et al.
Publicado: (2018)

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

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
por: Ishiyama, Akihiko, et al.
Publicado: (2018)

Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
por: Mahdi, Layth, et al.
Publicado: (2020)

Cerebrovascular diseases in two patients with entire NSD1 deletion
por: Itai, Toshiyuki, et al.
Publicado: (2021)

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
por: Luo, Di-Qing, et al.
Publicado: (2014)

A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
por: Botto, Nicoletta, et al.
Publicado: (2010)

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

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene
por: Stokman, Lara, et al.
Publicado: (2016)

Deletion of the Lmna Gene Induces Growth Delay and Serum Biochemical Changes in C57BL/6 Mice
por: Ruan, J., et al.
Publicado: (2014)

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation
por: Kim, Hui Kwon, et al.
Publicado: (2011)

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)

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)

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

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
por: Keil, Laura, et al.
Publicado: (2022)

Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias
por: Ning, Shifeng, et al.
Publicado: (2023)

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients
por: de Vor, Inge C., et al.
Publicado: (2016)

Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene
por: Zaragoza, Michael V., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_fbpkhtd71ql7am74351r1n2jj6