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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#8
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS...
December 5, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27919367/familial-partial-lipodystrophy-presenting-as-metabolic-syndrome
#9
Darwin Chan, Adam D McIntyre, Robert A Hegele, Andrew C Don-Wauchope
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27916986/pharmacological-modulation-of-lmna-srsf1-dependent-splicing-abrogates-diet-induced-obesity-in-mice
#10
J Santo, C Lopez-Herrera, C Apolit, Y Bareche, L Lapasset, C Chavey, S Capozi, F Mahuteau, R Najman, P Fornarelli, I C Lopez-Mejía, G Béranger, F Casas, E-Z Amri, B Pau, D Scherrer, J Tazi
BAKGROUND/OBJECTIVES: Intense drug discovery efforts in the metabolic field highlight the need for novel strategies for the treatment of obesity. Alternative splicing (AS) and/or polyadenylation enable the LMNA gene to express distinct protein isoforms that exert opposing effects on energy metabolism and lifespan. Here we aimed to use the splicing factor SRSF1 that contribute to the production of these different isoforms as a target to uncover new anti-obesity drug. SUBJECTS/METHODS: Small molecules modulating SR protein activity and splicing, were tested for their abilities to interact with SRSF1 and to modulate LMNA (AS)...
December 5, 2016: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/27913189/construction-and-analysis-of-a-human-testis-sperm-enriched-interaction-network-unraveling-the-ppp1cc2-interactome
#11
Joana Vieira Silva, Sooyeon Yoon, Pieter-Jan De Bock, Alexander V Goltsev, Kris Gevaert, José Fernando F Mendes, Margarida Fardilha
BACKGROUND: Phosphoprotein phosphatase 1 catalytic subunit gamma 2 (PPP1CC2), a PPP1CC tissue-specific alternative splice restricted to testicular germ cells and spermatozoa, is essential for spermatogenesis and spermatozoa motility. The key to understand PPP1CC2 regulation lies on the characterization of its interacting partners. METHODS: We construct a testis/sperm-enriched protein interaction network and analyzed the topological properties and biological context of the network...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27911330/fhl1b-interacts-with-lamin-a-c-and%C3%A2-emerin-at-the-nuclear-lamina-and%C3%A2-is%C3%A2-misregulated-in-emery-dreifuss-muscular-dystrophy
#12
Esma Ziat, Kamel Mamchaoui, Maud Beuvin, Isabelle Nelson, Feriel Azibani, Simone Spuler, Gisèle Bonne, Anne T Bertrand
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encoding for the nuclear envelope proteins emerin and lamin A/C, indicating that EDMD is a nuclear envelope disease. We recently reported mutations in FHL1 gene in X-linked EDMD. FHL1 encodes FHL1A, and the two minor isoforms FHL1B and FHL1C. So far, none have been described at the nuclear envelope. OBJECTIVE: To gain insight into the pathophysiology of EDMD, we focused our attention on the poorly characterized FHL1B isoform...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27886618/massive-parallel-sequencing-questions-the-pathogenic-role-of-missense-variants-in-dilated-cardiomyopathy
#13
Martin G Dalin, Pär G Engström, Emil G Ivarsson, Per Unneberg, Sara Light, Maria Schaufelberger, Thomas Gilljam, Bert Andersson, Martin O Bergo
BACKGROUND: Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare variants in DCM-associated genes also in individuals without known heart disease. In this study, we investigate variant prevalence and genotype-phenotype correlations in Swedish DCM patients, and compare their genetic variants to those detected in reference cohorts. METHODS AND RESULTS: We sequenced the coding regions of 41 DCM-associated genes in 176 unrelated patients with idiopathic DCM and found 102 protein-altering variants with an allele frequency of <0...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27884249/long-term-arrhythmic-and-nonarrhythmic-outcomes-of-lamin-a-c-mutation-carriers
#14
Saurabh Kumar, Samuel H Baldinger, Estelle Gandjbakhch, Philippe Maury, Jean-Marc Sellal, Alexander F A Androulakis, Xavier Waintraub, Philippe Charron, Anne Rollin, Pascale Richard, William G Stevenson, Ciorsti J Macintyre, Carolyn Y Ho, Tina Thompson, Jitendra K Vohra, Jonathan M Kalman, Katja Zeppenfeld, Frederic Sacher, Usha B Tedrow, Neal K Lakdawala
BACKGROUND: Mutations in LMNA are variably expressed and may cause cardiomyopathy, atrioventricular block (AVB), or atrial arrhythmias (AAs) and ventricular arrhythmias (VA). Detailed natural history studies of LMNA-associated arrhythmic and nonarrhythmic outcomes are limited, and the prognostic significance of the index cardiac phenotype remains uncertain. OBJECTIVES: This study sought to describe the arrhythmic and nonarrhythmic outcomes of LMNA mutation carriers and to assess the prognostic significance of the index cardiac phenotype...
November 29, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27876398/dropped-head-congenital-muscular-dystrophy-caused-by-de-novo-mutations-in-lmna
#15
Pakize Karaoglu, Nicolas Quizon, Matthias Pergande, Haicui Wang, Ayşe Ipek Polat, Ayca Ersen, Erdener Özer, Lena Willkomm, Semra Hiz Kurul, Raúl Heredia, Uluç Yis, Duygu Selcen, Sebahattin Çirak
BACKGROUND: Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. CASE DESCRIPTION: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes...
November 19, 2016: Brain & Development
https://www.readbyqxmd.com/read/27835913/circulation-autoantibody-against-lamin-a-c-in-patients-with-sj%C3%A3-gren-s-syndrome
#16
Wen Zhang, Chunyan Zhang, Peng Chen, Chunhe Yang, Xianfeng Gan, Muhammad Hussain, Yiping Xun, Yaping Tian, Hongwu Du
Lamin A/C proteins are major components of nuclear laminae and were encoded by the LMNA gene. Recent studies have found that in addition to provides nuclear-membrane strength; it also regulates the gene expression. Lamin A/C has been confirmed as an autoantigen in RA, SLE and vasculitis. Anti-Lamin A/C antibodies also have been found by indirect immunofluorescence method. In this study, we used various research methods to confirm Lamin A/C is an autoantigen in Han Chinese patients with confirmed Sjögren's syndrome (SS)...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27813223/truncating-titin-mutations-are-associated-with-a-mild-and-treatable-form-of-dilated-cardiomyopathy
#17
Joeri A Jansweijer, Karin Nieuwhof, Francesco Russo, Edgar T Hoorntje, Jan D H Jongbloed, Ronald H Lekanne Deprez, Alex V Postma, Marieke Bronk, Ingrid A W van Rijsingen, Simone de Haij, Elena Biagini, Paul L van Haelst, Jan van Wijngaarden, Maarten P van den Berg, Arthur A M Wilde, Marcel M A M Mannens, Rudolf A de Boer, Karin Y van Spaendonck-Zwarts, J Peter van Tintelen, Yigal M Pinto
AIMS: Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. METHODS AND RESULTS: We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60]...
November 3, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27791462/deregulation-of-focal-adhesion-formation-and-cytoskeletal-tension-due-to-loss-of-a-type-lamins
#18
Tobias D J Corne, Tom Sieprath, Jonathan Vandenbussche, Danahe Mohammed, Mariska Te Lindert, Kris Gevaert, Sylvain Gabriele, Katarina Wolf, Winnok H De Vos
The nuclear lamina mechanically integrates the nucleus with the cytoskeleton and extracellular environment and regulates gene expression. These functions are exerted through direct and indirect interactions with the lamina's major constituent proteins, the A-type lamins, which are encoded by the LMNA gene. Using quantitative stable isotope labeling-based shotgun proteomics we have analyzed the proteome of human dermal fibroblasts in which we have depleted A-type lamins by means of a sustained siRNA-mediated LMNA knockdown...
October 28, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/27784478/-correlation-between-thigh-muscle-magnetic-resonance-imaging-findings-and-clinical-features-of-congenital-muscular-dystrophies-a-preliminary-study
#19
L L Wang, J Du, X N Fu, Y B Fan, C J Wei, J Ding, D D Tan, J X Xiao, H Xiong
Objective: To analyze the clinical and magnetic resonance imaging (MRI) features of congenital muscular dystrophy (CMD) to improve the diagnostic level. Method: Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed on genetic level from April 2013 to November 2015 were investigated. MRI was performed on the thigh muscles of all cases. Fatty infiltration of different muscles described in T1WI was graded to evaluate. Clinical symptoms and signs, as well as muscle MRI features were analyzed by statistical description...
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27778252/successful-treatment-of-an-unusual-case-of-fpld2-the-role-of-roux-en-y-gastric-bypass-case-report-and-literature-review
#20
Sharon Grundfest-Broniatowski, JingLiang Yan, Matthew Kroh, Holly Kilim, Andrew Stephenson
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years...
October 24, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
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