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https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#1
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28299614/lamin-a-c-cardiomyopathies-current-understanding-and-novel-treatment-strategies
#2
REVIEW
Xi Wang, Allyson Zabell, Wonshill Koh, W H Wilson Tang
Dilated cardiomyopathy (DCM) is the third leading cause of heart failure in the USA. A major gene associated with DCM with cardiac conduction system disease is lamin A/C (LMNA) gene. Lamins are type V filaments that serve a variety of roles, including nuclear structure support, DNA repair, cell signaling pathway mediation, and chromatin organization. In 1999, LMNA was found responsible for Emery-Dreifuss muscular dystrophy (EDMD) and, since then, has been found in association with a wide spectrum of diseases termed laminopathies, including LMNA cardiomyopathy...
March 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28294881/-dilatation-of-the-chambers-of-the-heart-caused-by-a-mutation-of-lamin-gene-lmna
#3
T G Vaikhanskaya, L N Sivitskaya, N G Danilenko, I V Sidorenko, T V Kurushka, O G Davydenko
Dilated cardiomyopathy (DCM) caused by mutations in the lamin A/C (LMNA) gene is often associated with conduction disorders, cardiac arrhythmias and various skeletal muscle abnormalities. We present here a case of severe form of DCM with overlapping phenotype.
May 2016: Kardiologiia
https://www.readbyqxmd.com/read/28247606/-myeloid-and-erythroid-hematopoietic-transcription-factor-expression-decline-after-knockdown-of-lmna-genes-in-zebrafish-embryos
#4
Shifang Hou, Zhihua Wang, Jun Wang, Zhixu He, Liping Shu
Objective: To investigate the effect of lmna gene down-regulation on early hematopoietic development of zebrafish. Methods: Phosphorodiamidate morpholino oligomer (PMO) technology was used to downregulate lmna gene expression in Zebrafish. Zebrafish embryos injected phosphorodiamidate morpholino antisense oligonucleotide of lmna gene mRNA by microinjection at unicellular stage were taken as the experimental group, and those injected meaningless phosphorodiamidate morpholino antisense oligonucleotide were taken as the control...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28246128/a-comprehensive-talen-based-knockout-library-for-generating-human-induced-pluripotent-stem-cell-based-models-for-cardiovascular-diseases
#5
Ioannis Karakikes, Vittavat Termglinchan, Diana A Cepeda, Jaecheol Lee, Sebastian Diecke, Ayal Hendel, Ilanit Itzhaki, Mohamed Ameen, Rajani Shrestha, Haodi Wu, Ning Ma, Ning-Yi Shao, Timon Seeger, Nicole A Woo, Kitchener D Wilson, Elena Matsa, Matthew H Porteus, Vittorio Sebastiano, Joseph C Wu
Rationale: Targeted genetic engineering using programmable nucleases such as transcription activator-like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome. Objective: The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro. Methods and Results: By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout (KO) eighty-eight human genes that are associated with cardiomyopathies and congenital heart diseases...
February 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28221305/a-novel-missense-variant-in-the-agrn-gene-congenital-myasthenic-syndrome-presenting-with-head-drop
#6
Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, Haluk Topaloglu
Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb-girdle weakness, who had no ptosis or ophthalmoplegia at presentation...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28199729/spectrum-of-disease-associated-with-partial-lipodystrophy-pl-lessons-from-a-trial-cohort
#7
Nevin Ajluni, Rasimcan Meral, Adam H Neidert, Graham F Brady, Eric Buras, Barbara McKenna, Frank DiPaola, Thomas L Chenevert, Jeffrey F Horowitz, Colleen Buggs-Saxton, Amit R Rupani, Peedikayil E Thomas, Marwan K Tayeh, Jeffrey W Innis, M Bishr Omary, Hari Conjeevaram, Elif A Oral
CONTEXT: Partial lipodystrophy (PL) is associated with metabolic co-morbidities but may go undiagnosed as the disease spectrum is not fully described. OBJECTIVE: Define disease spectrum in PL using genetic, clinical (historical, morphometric) and laboratory characteristics. DESIGN: Cross-sectional evaluation. PARTICIPANTS: 23 patients (22 with familial, one acquired, 78.3% female, aged 12-64 years) with PL and non-alcoholic fatty liver disease (NAFLD)...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192239/super-silac-mix-coupled-with-sim-aims-assays-for-targeted-verification-of-phosphopeptides-discovered-in-a-large-scale-phosphoproteome-analysis-of-hepatocellular-carcinoma
#8
Yu-Tsun Lin, Kun-Yi Chien, Chia-Chun Wu, Wen-Yu Chang, Lichieh Julie Chu, Min-Chi Chen, Chau-Ting Yeh, Jau-Song Yu
Plentiful studies have established a close association between aberrant phosphorylation and hepatocellular carcinoma (HCC). Here, we applied a quantitative phosphoproteomics platform combining dimethylation labeling and online 3D strong cation exchange chromatography (SCX)-titanium oxide (TiO2)/RP-LTQ-Orbitrap to compare phosphoproteomes between three pairs of HCC tissues and non-tumor counterparts. This analysis yielded 7868 quantifiable phosphopeptides and numerous up- or down-regulated candidates. Increased phosphorylation of LMNA and NIPA was confirmed using specific antibodies...
March 22, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28188704/cnot1-cooperates-with-lmna-to-aggravate-osteosarcoma-tumorigenesis-through-the-hedgehog-signaling-pathway
#9
Dong-Dong Cheng, Jing Li, Shi-Jie Li, Qing-Cheng Yang, Cun-Yi Fan
While treatments for childhood osteosarcoma have improved, the overall survival for this common type of bone cancer has not changed for three decades, and thus, new targets for therapeutic development are needed. To identify tumor-related proteins in osteosarcoma, we used isobaric tags in a relative and absolute quantitation proteomic approach to analyze the differentially expressed proteins between osteosarcoma cells and human osteoblastic cells. Through clinical screening and functional evaluation, CCR4-NOT transcription complex subunit 1 (CNOT1) correlated with the growth of osteosarcoma cells...
February 11, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28182637/comprehensive-target-capture-next-generation-sequencing-as-a-second-tier-diagnostic-approach-for-congenital-muscular-dystrophy-in-taiwan
#10
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong
PURPOSE: Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia. METHODS: A total of 48 patients suspected to have CMD were screened and categorized by histochemistry and immunohistochemistry studies...
2017: PloS One
https://www.readbyqxmd.com/read/28125586/a-novel-lamin-a-mutant-responsible-for-congenital-muscular-dystrophy-causes-distinct-abnormalities-of-the-cell-nucleus
#11
Alice Barateau, Nathalie Vadrot, Patrick Vicart, Ana Ferreiro, Michèle Mayer, Delphine Héron, Corinne Vigouroux, Brigitte Buendia
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to laminopathies such as lipodystrophies, premature aging syndromes (progeria) and muscular dystrophies. Here, we identified a novel heterozygous LMNA p.R388P de novo mutation in a patient with a non-previously described severe phenotype comprising congenital muscular dystrophy (L-CMD) and lipodystrophy. In culture, the patient's skin fibroblasts entered prematurely into senescence, and some nuclei showed a lamina honeycomb pattern...
2017: PloS One
https://www.readbyqxmd.com/read/28125396/current-insights-into-lmna-cardiomyopathies-existing-models-and-missing-lincs
#12
Daniel Brayson, Catherine M Shanahan
The nuclear lamina is a critical structural domain for the maintenance of genomic stability and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type lamins lead to the disruption of these key cellular functions, resulting in a number of devastating diseases known as laminopathies. Cardiomyopathy is a common laminopathy and is highly penetrant with poor prognosis. To date, cell mechanical instability and dysregulation of gene expression have been proposed as the main mechanisms driving cardiac dysfunction, and indeed discoveries in these areas have provided some promising leads in terms of therapeutics...
January 2, 2017: Nucleus
https://www.readbyqxmd.com/read/28123761/clinical-disease-presentation-and-ecg-characteristics-of-lmna-mutation-carriers
#13
Laura Ollila, Kjell Nikus, Miia Holmström, Mikko Jalanko, Raija Jurkko, Maija Kaartinen, Juha Koskenvuo, Johanna Kuusisto, Satu Kärkkäinen, Eeva Palojoki, Eeva Reissell, Päivi Piirilä, Tiina Heliö
OBJECTIVE: Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5-8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers. METHODS: Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls...
2017: Open Heart
https://www.readbyqxmd.com/read/28069793/decreased-wnt-%C3%AE-catenin-signalling-contributes-to-the-pathogenesis-of-dilated-cardiomyopathy-caused-by-mutations-in-the-lamin-a-c-gene
#14
Caroline Le Dour, Coline Macquart, Fusako Sera, Shunichi Homma, Gisele Bonne, John P Morrow, Howard J Worman, Antoine Muchir
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure. Previous cardiac transcriptional profiling of Lmna(H222P/H222P) mouse, a small animal model of LMNA cardiomyopathy, suggested decreased WNT/β-catenin signalling. We confirmed decreased WNT/β-catenin signalling in the hearts of these mice by demonstrating decreased β-catenin and WNT proteins...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062850/cellular-strain-avoidance-is-mediated-by-a-functional-actin-cap-observations-in-an-lmna-deficient-cell-model
#15
Chiara Tamiello, Maurice Halder, Miriam A F Kamps, Frank P T Baaijens, Jos L V Broers, Carlijn V C Bouten
In adherent cells the relevance of a physical mechanotransduction pathway provided by the perinuclear actin cap stress fibers has recently emerged. Here, we investigate the impact of a functional actin cap on the cellular adaptive response to topographical cues and uniaxial cyclic strain. Lmna-deficient fibroblasts are used as a model system because they do not develop an intact actin cap, but predominantly form a basal layer of actin stress fibers underneath the nucleus. We observe that topographical cues induce alignment in both normal and lmna-deficient fibroblasts, suggesting that topographical signal transmission occurs independently of the integrity of the actin cap...
January 6, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28056360/nuclear-envelope-localization-of-lemd2-is-developmentally-dynamic-and-lamin-a-c-dependent-yet-insufficient-for-heterochromatin-tethering
#16
Katharina Thanisch, Congdi Song, Dieter Engelkamp, Jeannette Koch, Audrey Wang, Einar Hallberg, Roland Foisner, Heinrich Leonhardt, Colin L Stewart, Boris Joffe, Irina Solovei
Peripheral heterochromatin in mammalian nuclei is tethered to the nuclear envelope by at least two mechanisms here referred to as the A- and B-tethers. The A-tether includes lamins A/C and additional unknown components presumably INM protein(s) interacting with both lamins A/C and chromatin. The B-tether includes the inner nuclear membrane (INM) protein Lamin B-receptor, which binds B-type lamins and chromatin. Generally, at least one of the tethers is always present in the nuclear envelope of mammalian cells...
January 2, 2017: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/27966284/increased-ventilatory-response-to-exercise-in-symptomatic-and-asymptomatic-lmna-mutation-carriers-a-follow-up-study
#17
Laura Ollila, Tiina Heliö, Anssi Sovijärvi, Mikko Jalanko, Maija Kaartinen, Johanna Kuusisto, Satu Kärkkäinen, Raija Jurkko, Eeva Reissell, Eeva Palojoki, Päivi Piirilä
BACKGROUND: LMNA mutations are an important cause of cardiomyopathy often leading to cardiac arrhythmias, heart failure and even heart transplantation. An increasing number of asymptomatic mutation carriers are identified, as family members of the index patients are screened. Our aim was to study the disease progression in asymptomatic LMNA mutation carriers and in patients with symptomatic cardiolaminopathy by repeated spiroergometric testing in a prospective clinical follow-up study...
January 2017: Clinical Physiology and Functional Imaging
https://www.readbyqxmd.com/read/27939607/proteomic-profiles-of-thyroid-tumors-by-mass-spectrometry-imaging-on-tissue-microarrays
#18
Manuel Galli, Fabio Pagni, Gabriele De Sio, Andrew Smith, Clizia Chinello, Martina Stella, Vincenzo L'Imperio, Marco Manzoni, Mattia Garancini, Diego Massimini, Niccolò Mosele, Giancarlo Mauri, Italo Zoppis, Fulvio Magni
The current study proposes the successful use of a mass spectrometry-imaging technology that explores the composition of biomolecules and their spatial distribution directly on-tissue to differentially classify benign and malignant cases, as well as different histotypes. To identify new specific markers, we investigated with this technology a wide histological Tissue Microarray (TMA)-based thyroid lesion series. Results showed specific protein signatures for malignant and benign specimens and allowed to build clusters comprising several proteins with discriminant capabilities...
December 9, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27938454/cardiac-manifestations-of-congenital-lmna-related-muscular-dystrophy-in-children-three-case-reports-and-recommendations-for-care
#19
Felice Heller, Ivana Dabaj, Jean K Mah, Jean Bergounioux, Aben Essid, Carsten G Bönnemann, Anne Rutkowski, Gisèle Bonne, Susana Quijano-Roy, Karim Wahbi
Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients...
December 12, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27926859/rapamycin-reverses-metabolic-deficits-in-lamin-a-c-deficient-mice
#20
Chen-Yu Liao, Sydney S Anderson, Nicole H Chicoine, Jarrott R Mayfield, Emmeline C Academia, Joy A Wilson, Chalermkwan Pongkietisak, Morgan A Thompson, Earl P Lagmay, Delana M Miller, Yueh-Mei Hsu, Mark A McCormick, Monique N O'Leary, Brian K Kennedy
The role of the mTOR inhibitor, rapamycin, in regulation of adiposity remains controversial. Here, we evaluate mTOR signaling in lipid metabolism in adipose tissues of Lmna(-/-) mice, a mouse model for dilated cardiomyopathy and muscular dystrophy. Lifespan extension by rapamycin is associated with increased body weight and fat content, two phenotypes we link to suppression of elevated energy expenditure. In both white and brown adipose tissue of Lmna(-/-) mice, we find that rapamycin inhibits mTORC1 but not mTORC2, leading to suppression of elevated lipolysis and restoration of thermogenic protein UCP1 levels, respectively...
December 6, 2016: Cell Reports
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