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https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#1
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29777688/proteomic-changes-during-adult-stage-in-pre-optic-hypothalamus-hippocampus-and-pituitary-regions-of-female-rat-brain-following-neonatal-exposure-to-estradiol-17%C3%AE
#2
Vijayakumar Govindaraj, Radhika Nagamangalam Shridharan, Addicam Jagannadha Rao
Although neonatal exposure to estrogen or estrogenic compounds results in irreversible changes in the brain function and reproductive abnormalities during adulthood but the underlying mechanisms are still largely unknown. The present study has attempted to compare the protein profiles of sexually dimorphic brain regions of adult female rats which were exposed to estradiol- 17β during neonatal period. The total proteins extracted from pre-optic area (POA), hypothalamus, hippocampus and pituitary of control and neonatally E2 treated female rats was subjected to 2D-SDS-PAGE and differentially expressed proteins were identification by MALDI TOF/TOF-MS...
May 16, 2018: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/29772801/ogt-o-glcnac-transferase-selectively-modifies-multiple-residues-unique-to-lamin-a
#3
Dan N Simon, Amanda Wriston, Qiong Fan, Jeffrey Shabanowitz, Alyssa Florwick, Tejas Dharmaraj, Sherket B Peterson, Yosef Gruenbaum, Cathrine R Carlson, Line M Grønning-Wang, Donald F Hunt, Katherine L Wilson
The LMNA gene encodes lamins A and C with key roles in nuclear structure, signaling, gene regulation, and genome integrity. Mutations in LMNA cause over 12 diseases ('laminopathies'). Lamins A and C are identical for their first 566 residues. However, they form separate filaments in vivo, with apparently distinct roles. We report that lamin A is β- O -linked N -acetylglucosamine- (O -GlcNAc)-modified in human hepatoma (Huh7) cells and in mouse liver. In vitro assays with purified O -GlcNAc transferase (OGT) enzyme showed robust O -GlcNAcylation of recombinant mature lamin A tails (residues 385⁻646), with no detectable modification of lamin B1, lamin C, or 'progerin' (Δ50) tails...
May 17, 2018: Cells
https://www.readbyqxmd.com/read/29770364/three-new-cases-of-dilated-cardiomyopathy-caused-by-mutations-in-lmna-gene
#4
Larysa N Sivitskaya, Nina G Danilenko, Tatiyana G Vaikhanskaya, Tatsiyana V Kurushka, Oleg G Davydenko
Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29758290/proteome-response-of-dental-pulp-cells-to-exogenous-fgf8
#5
Rozaliya Tsikandelova, Petko Mladenov, Sébastien Planchon, Silvia Kalenderova, Maria Dragneva, Zornitsa Mihaylova, Pavel Stanimirov, Vanyo Mitev, Jenny Renaut, Nikolay Ishkitiev
FGF8 specifies early tooth development by directing the migration of the early tooth founder cells to the site of tooth emergence. To date the effect of the FGF8 in adult dental pulp has not been studied. We have assessed the regenerative potential of FGF8 by evaluating changes in the proteome landscape of dental pulp following short- and long-term exposure to recombinant FGF8 protein. In addition, we carried out qRT PCR analysis to determine extracellular/adhesion gene marker expression and assessed cell proliferation and mineralization in response to FGF8 treatment...
May 11, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29755599/nuclear-lamin-protein-c-is-linked-to-lineage-specific-whole-cell-mechanical-properties
#6
Rafael D González-Cruz, Jessica S Sadick, Vera C Fonseca, Eric M Darling
INTRODUCTION: Lamin proteins confer nuclear integrity and relay external mechanical cues that drive changes in gene expression. However, the influence these lamins have on whole-cell mechanical properties is unknown. We hypothesized that protein expression of lamins A, B1, and C would depend on the integrity of the actin cytoskeleton and correlate with cellular elasticity and viscoelasticity. METHODS: To test these hypotheses, we examined the protein expression of lamins A, B1, and C across five different cell lines with varied mechanical properties...
April 2018: Cellular and Molecular Bioengineering
https://www.readbyqxmd.com/read/29753824/characterization-of-the-effects-of-trace-concentrations-of-graphene-oxide-on-zebrafish-larvae-through-proteomic-and-standard-methods
#7
Wei Zou, Qixing Zhou, Xingli Zhang, Li Mu, Xiangang Hu
The effects of graphene oxide (GO) carbon nanomaterials on ecosystems have been well characterized, but the toxicity of GO at predicted environmental concentrations to living organisms at the protein level remain largely unknown. In the present work, the adverse effects and mechanisms of GO at predicted environmental concentrations were evaluated by integrating proteomics and standard analyses for the first time. The abundances of 243 proteins, including proteins involved in endocytosis (e.g., cltcb, arf6, capzb and dnm1a), oxidative stress (e...
May 10, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29752965/recq-helicase-disease-and-related-progeroid-syndromes-recq2018-meeting
#8
REVIEW
Junko Oshima, Hisaya Kato, Yoshiro Maezawa, Koutaro Yokote
Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome...
May 9, 2018: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/29750601/allelic-heterogeneity-of-lamin-a-c-phenotypes-and-molecular-mechanism-behind-it
#9
Jelena Perovanovic, Eric P Hoffman
Mutations in the LMNA gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope proteins cause clinically overlapping disorders. The majority of mutations are dominant single amino acid changes (toxic protein produced by the single mutant gene), and patients are heterozygous with both normal and abnormal proteins. Experimental support has been provided for different models of cellular pathogenesis in nuclear envelope diseases, including changes in heterochromatin formation at the nuclear membrane (epigenomics), changes in the timing of steps during terminal differentiation of cells, and structural abnormalities of the nuclear membrane...
May 11, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29741282/restrictive-cardiomyopathy-an-unusual-phenotype-of-a-lamin-a-variant
#10
Mark S Paller, Cindy M Martin, Mary Ella Pierpont
Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy...
May 9, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29710166/association-of-lonafarnib-treatment-vs-no-treatment-with-mortality-rate-in-patients-with-hutchinson-gilford-progeria-syndrome
#11
COMPARATIVE STUDY
Leslie B Gordon, Heather Shappell, Joe Massaro, Ralph B D'Agostino, Joan Brazier, Susan E Campbell, Monica E Kleinman, Mark W Kieran
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal premature aging disease. There is no approved treatment. Objective: To evaluate the association of monotherapy using the protein farnesyltransferase inhibitor lonafarnib with mortality rate in children with HGPS. Design, Setting, and Participants: Cohort study comparing contemporaneous (birth date ≥1991) untreated patients with HGPS matched with treated patients by age, sex, and continent of residency using conditional Cox proportional hazards regression...
April 24, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29703891/targeting-of-nat10-enhances-healthspan-in-a-mouse-model-of-human-accelerated-aging-syndrome
#12
Gabriel Balmus, Delphine Larrieu, Ana C Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J Geisler, Christopher J Lelliott, Jacqueline K White, Natasha A Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, David J Adams, Stephen P Jackson
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death. Cells from HGPS patients accumulate progerin, a permanently farnesylated, toxic form of Lamin A, disrupting the nuclear shape and chromatin organization, leading to DNA-damage accumulation and senescence. Therapeutic approaches targeting farnesylation or aiming to reduce progerin levels have provided only partial health improvements...
April 27, 2018: Nature Communications
https://www.readbyqxmd.com/read/29702688/upregulation-of-the-aging-related-lmna-splice-variant-progerin-in-dilated-cardiomyopathy
#13
Moritz Messner, Santhosh Kumar Ghadge, Valentina Goetsch, Andreas Wimmer, Jakob Dörler, Gerhard Pölzl, Marc-Michael Zaruba
BACKGROUND: Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide. The premature aging disease Hutchinson-Gilford syndrome (HGPS) is also caused by defined mutations in the LMNA gene resulting in activation of a cryptic splice donor site leading to a defective truncated prelamin A protein called progerin. Low levels of progerin are expressed in healthy individuals associated with ageing. Here, we aimed to address the role of progerin in dilated cardiomyopathy...
2018: PloS One
https://www.readbyqxmd.com/read/29693488/elevated-tgf-%C3%AE-2-serum-levels-in-emery-dreifuss-muscular-dystrophy-implications-for-myocyte-and-tenocyte-differentiation-and-fibrogenic-processes
#14
Pia Bernasconi, Nicola Carboni, Giulia Ricci, Gabriele Siciliano, Luisa Politano, Lorenzo Maggi, Tiziana Mongini, Liliana Vercelli, Carmelo Rodolico, Elena Biagini, Giuseppe Boriani, Lucia Ruggiero, Lucio Santoro, Elisa Schena, Sabino Prencipe, Camilla Evangelisti, Elena Pegoraro, Lucia Morandi, Marta Columbaro, Chiara Lanzuolo, Patrizia Sabatelli, Paola Cavalcante, Cristina Cappelletti, Gisèle Bonne, Antoine Muchir, Giovanna Lattanzi
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients...
April 25, 2018: Nucleus
https://www.readbyqxmd.com/read/29689380/mpa-a-free-accessible-and-efficient-pipeline-for-single-nucleotide-variant-annotation-and-prioritization-for-next-generation-sequencing-routine-molecular-diagnosis
#15
Kevin Yauy, David Baux, Henri Pegeot, Charles Van Goethem, Charly Mathieu, Thomas Guignard, Raul Juntas Morales, Delphine Lacourt, Martin Krahn, Vilma-Lotta Lehtokari, Gisele Bonne, Sylvie Tuffery-Giraud, Michel Koenig, Mireille Cossée
Interpretation of next-generation sequencing data constitutes the main limitation in molecular genetics diagnosis. In diagnosis of myopathies and muscular dystrophies (MMD), another major issue is to efficiently predict pathogenicity of variants identified in large genes, especially TTN, since current in silico prediction tools show limitations to predict and rank the numerous variants of such genes. We propose a unique variant prioritization score called mobidic prioritization algorithm (MPA) based on curated interpretation for previously reported variants, biological assumptions, and splice and missense predictors to prioritize all types of single nucleotide variants...
April 21, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29668927/elevated-dual-specificity-protein-phosphatase-4-in-cardiomyopathy-caused-by-lamin-a-c-gene-mutation-is-primarily-erk1-2-dependent-and-its-depletion-improves-cardiac-function-and-survival
#16
Jason C Choi, Wei Wu, Elizabeth Phillips, Robin Plevin, Fusako Sera, Shunichi Homma, Howard J Worman
Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as LMNA cardiomyopathy) with variable skeletal muscle involvement. We previously showed that cardiomyocyte-specific overexpression of dual specificity protein phosphatase 4 (DUSP4) is involved in the pathogenesis of LMNA cardiomyopathy. However, how mutations in LMNA activate Dusp4 expression and whether it is necessary for the development of LMNA cardiomyopathy are currently unknown...
April 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29665450/lamin-a-c-might-be-involved-in-the-emt-signalling-pathway
#17
Lingkun Zuo, Huanying Zhao, Ronghui Yang, Liyong Wang, Hui Ma, Xiaoxue Xu, Ping Zhou, Lu Kong
We have previously reported a heterogeneous expression pattern of the nuclear membrane protein lamin A/C in low- and high-Gleason score (GS) prostate cancer (PC) tissues, and we have now found that this change is not associated with LMNA mutations. This expression pattern appears to be similar to the process of epithelial to mesenchymal transition (EMT) or to that of mesenchymal to epithelial transition (MET). The role of lamin A/C in EMT or MET in PC remains unclear. Therefore, we first investigated the expression levels of and the associations between lamin A/C and several common EMT markers, such as E-cadherin, N-cadherin, β-catenin, snail, slug and vimentin in PC tissues with different GS values and in different cell lines with varying invasion abilities...
April 14, 2018: Gene
https://www.readbyqxmd.com/read/29628476/a-novel-truncating-lmna-mutation-in-patients-with-cardiac-conduction-disorders-and-dilated-cardiomyopathy
#18
Hiroshi Kawakami, Akiyoshi Ogimoto, Naohito Tokunaga, Kazuhisa Nishimura, Hideo Kawakami, Haruhiko Higashi, Chiharuko Iio, Tamami Kono, Jun Aono, Teruyoshi Uetani, Takayuki Nagai, Katsuji Inoue, Jun Suzuki, Shuntaro Ikeda, Takafumi Okura, Yasumasa Ohyagi, Yasuharu Tabara, Jitsuo Higaki
The cardiac phenotype of laminopathies is characterized by cardiac conduction disorders (CCDs) and dilated cardiomyopathy (DCM). Although laminopathies have been considered monogenic, they exhibit a remarkable degree of clinical variability. This case series aimed to detect the causal mutation and to investigate the causes of clinical variability in a Japanese family with inherited CCD and DCM.Of the five family members investigated, four had either CCD/DCM or CCD alone, while one subject had no cardiovascular disease and acted as a normal control...
April 6, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29624713/clinical-and-imaging-hallmarks-of-the-myh7-related-myopathy-with-severe-axial-involvement
#19
Ivana Dabaj, Robert Y Carlier, David Gómez-Andrés, Osório Abath Neto, Enrico Bertini, Adele D'Amico, Fabiana Fattori, Yann Péréon, Claudia Castiglioni, Eliana Rodillo, Michela Catteruccia, Júlio Brandão Guimarães, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Edoardo Malfatti, Carsten Bonnemann, Jocelyn Laporte, Norma Romero, Adrien Felter, Susana Quijano-Roy, Cristiane Araújo Martins Moreno, Edmar Zanoteli
INTRODUCTION: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. METHODS: We evaluated clinical and muscle magnetic resonance imaging changes in patients with mutations in the rod domain of MYH7 including one with mosaicism and three with novel missense mutations. RESULTS: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores...
April 6, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29619863/an-overview-of-treatment-strategies-for-hutchinson-gilford-progeria-syndrome
#20
Karim Harhouri, Diane Frankel, Catherine Bartoli, Patrice Roll, Annachiara De Sandre-Giovannoli, Nicolas Lévy
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to cardiovascular complications. HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C which are structural components of the nuclear lamina. This mutation leads to the production of a truncated toxic form of lamin A, issued from aberrant splicing and called progerin...
April 5, 2018: Nucleus
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