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https://www.readbyqxmd.com/read/28938416/pancreatic-histopathology-of-human-monogenic-diabetes-due-to-causal-variants-in-kcnj11-hnf1a-gata6-and-lmna
#1
May Sanyoura, Laura Jacobsen, David Carmody, Daniela Del Gaudio, Gorka Alkorta-Aranburu, Kelly Arndt, Ying Ying Hu, Frances Kobiernicki, Irina Kusmartseva, Mark A Atkinson, Louis H Philipson, Desmond Schatz, Martha Campbell-Thompson, Siri Atma W Greeley
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases but most patients are misdiagnosed as type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreases from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ donors with Diabetes biorepository was used to identify possible cases with monogenic diabetes and to compare effects of genetic variants on pancreas histology...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28913408/hepatocyte-specific-deletion-of-mouse-lamin-a-c-leads-to-male-selective-steatohepatitis
#2
Raymond Kwan, Graham F Brady, Maria Brzozowski, Sujith V Weerasinghe, Hope Martin, Min-Jung Park, Makayla J Brunt, Ram K Menon, Xin Tong, Lei Yin, Colin L Stewart, M Bishr Omary
BACKGROUND & AIMS: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging syndromes. However, the role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is caused by primary hepatocyte defects or systemic alterations. METHODS: To address these questions, we generated mice carrying a hepatocyte-specific deletion of Lmna (knockout [KO] mice) and characterized the KO liver and primary hepatocyte phenotypes by immunoblotting, immunohistochemistry, microarray analysis, quantitative real-time polymerase chain reaction, and Oil Red O and Picrosirius red staining...
November 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#3
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing (NGS) technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Out of these, 54.4% showed an autosomal dominant, 33...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28893461/nuclear-lamins-thin-filaments-with-major-functions
#4
REVIEW
Rebecca de Leeuw, Yosef Gruenbaum, Ohad Medalia
The nuclear lamina is a nuclear peripheral meshwork that is mainly composed of nuclear lamins, although a small fraction of lamins also localizes throughout the nucleoplasm. Lamins are classified as type V intermediate filament (IF) proteins. Mutations in lamin genes cause at least 15 distinct human diseases, collectively termed laminopathies, including muscle, metabolic, and neuronal diseases, and can cause accelerated aging. Most of these mutations are in the LMNA gene encoding A-type lamins. A growing number of nuclear proteins are known to bind lamins and are implicated in both nuclear and cytoskeletal organization, mechanical stability, chromatin organization, signaling, gene regulation, genome stability, and cell differentiation...
September 8, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28874324/complex-phenotype-linked-to-a-mutation-in-exon-11-of-the-lamin-a-c-gene-hypertrophic-cardiomyopathy-atrioventricular-block-severe-dyslipidemia-and-diabetes
#5
Ana Rita G Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J Pinto, Dulce Brito
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes...
September 2, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28872940/itm2a-silencing-rescues-lamin-a-mediated-inhibition-of-3t3-l1-adipocyte-differentiation
#6
Stephanie J Davies, James Ryan, Patrick B F O'Connor, Elaine Kenny, Derek Morris, Pavel V Baranov, Rosemary O'Connor, Tommie V McCarthy
Dysregulation of adipose tissue metabolism is associated with multiple metabolic disorders. One such disease, known as Dunnigan-type familial partial lipodystrophy (FPLD2) is characterized by defective fat metabolism and storage. FPLD2 is caused by a specific subset of mutations in the LMNA gene. The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail. We used RNA-Seq analysis to assess the effects of wild-type (WT) and mutant (R482W) lamin A on the expression profile of differentiating 3T3-L1 mouse preadipocytes and identified Itm2a as a gene that was upregulated at 36 h post differentiation induction in these cells...
August 18, 2017: Adipocyte
https://www.readbyqxmd.com/read/28857661/identification-of-novel-rna-isoforms-of-lmna
#7
Emily DeBoy, Madaiah Puttaraju, Parthav Jailwala, Manjula Kasoji, Maggie Cam, Tom Misteli
The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing. Mutations in LMNA cause multiple diseases known as laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS), a premature aging disorder caused by a point mutation that activates a cryptic 5' splice site in exon 11, resulting in a 150 bp deletion in the LMNA mRNA and the production of the dominant lamin A isoform progerin...
August 31, 2017: Nucleus
https://www.readbyqxmd.com/read/28851664/pediatric-soft-tissue-tumor-of-the-upper-arm-with-lmna-ntrk1-fusion
#8
Shinji Kohsaka, Tsuyoshi Saito, Keisuke Akaike, Yoshiyuki Suehara, Takuo Hayashi, Tatsuya Takagi, Kazuo Kaneko, Toshihide Ueno, Shinya Kojima, Ken-Ichi Kohashi, Hiroyuki Mano, Yoshinao Oda, Takashi Yao
A 6-year-old girl was admitted to our hospital due to the presence of a slow-growing tumor in her right elbow. Biopsy specimens showed a round- to spindle-cell neoplasm with uncertain malignant potential, leading to the decision of surgical resection. Histologically, the resected tumor was encapsulated by fibrous tissue, but focally invaded the surrounding skeletal muscles. The tumor was composed of ganglion-cell-like short spindle cells with lymphocytic infiltration in the collagenous background. Tumor cells with large bizarre nuclei were occasionally observed, and multinucleated giant cells were scattered at the periphery...
August 26, 2017: Human Pathology
https://www.readbyqxmd.com/read/28844980/dcm-associated-lmna-mutations-cause-distortions-in-lamina-structure-and-assembly
#9
Pritha Bhattacharjee, Dipak Dasgupta, Kaushik Sengupta
BACKGROUND: A and B-type lamins are integral scaffolding components of the nuclear lamina which impart rigidity and shape to all metazoan nuclei. Over 450 mutations in A-type lamins are associated with 16 human diseases including dilated cardiomyopathy (DCM). Here, we show that DCM mutants perturb the self-association of lamin A (LA) and it's binding with lamin B1 (LB1). METHODS: We used confocal and superresolution microscopy (NSIM) to study the effect of LA mutants on the nuclear lamina...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28806747/low-lamin-a-expression-in-lung-adenocarcinoma-cells-from-pleural-effusions-is-a-pejorative-factor-associated-with-high-number-of-metastatic-sites-and-poor-performance-status
#10
Elise Kaspi, Diane Frankel, Julien Guinde, Sophie Perrin, Sophie Laroumagne, Andrée Robaglia-Schlupp, Kevin Ostacolo, Karim Harhouri, Rachid Tazi-Mezalek, Joelle Micallef, Hervé Dutau, Pascale Tomasini, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Pierre Cau, Philippe Astoul, Patrice Roll
The type V intermediate filament lamins are the principal components of the nuclear matrix, including the nuclear lamina. Lamins are divided into A-type and B-type, which are encoded by three genes, LMNA, LMNB1, and LMNB2. The alternative splicing of LMNA produces two major A-type lamins, lamin A and lamin C. Previous studies have suggested that lamins are involved in cancer development and progression. A-type lamins have been proposed as biomarkers for cancer diagnosis, prognosis, and/or follow-up. The aim of the present study was to investigate lamins in cancer cells from metastatic pleural effusions using immunofluorescence, western blotting, and flow cytometry...
2017: PloS One
https://www.readbyqxmd.com/read/28797100/mapping-the-contact-surfaces-in-the-lamin-a-aimp3-complex-by-hydrogen-deuterium-exchange-ft-icr-mass-spectrometry
#11
Yeqing Tao, Pengfei Fang, Sunghoon Kim, Min Guo, Nicolas L Young, Alan G Marshall
Aminoacyl-tRNA synthetases-interacting multifunctional protein3 (AIMP3/p18) is involved in the macromolecular tRNA synthetase complex via its interaction with several aminoacyl-tRNA synthetases. Recent reports reveal a novel function of AIMP3 as a tumor suppressor by accelerating cellular senescence and causing defects in nuclear morphology. AIMP3 specifically mediates degradation of mature Lamin A (LmnA), a major component of the nuclear envelope matrix; however, the mechanism of how AIMP3 interacts with LmnA is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28790155/lmna-mutations-associated-with-mild-and-late-onset-phenotype-the-case-of-the-dutch-founder-mutation-p-arg331gln
#12
EDITORIAL
Eloisa Arbustini, Valentina Favalli, Nupoor Narula
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28790152/lamin-a-c-related-cardiac-disease-late-onset-with-a-variable-and-mild-phenotype-in-a-large-cohort-of-patients-with-the-lamin-a-c-p-arg331gln-founder-mutation
#13
Edgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, Florence H van Tienen, Gerard J Te Meerman, Joeri A Jansweijer, Anthonie J van Essen, Paul G Volders, Alina A Constantinescu, Peter C van den Akker, Karin Y van Spaendonck-Zwarts, Rogier A Oldenburg, Carlo L Marcelis, Jasper J van der Smagt, Eric A Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A Wilde, Arthur van den Wijngaard, Jos L Broers, Jan D Jongbloed, Jolanda van der Velden, Maarten P van den Berg, J Peter van Tintelen
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35 family members carrying this variant were retrospectively collected...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28754655/modeling-treatment-response-for-lamin-a-c-related-dilated-cardiomyopathy-in-human-induced-pluripotent-stem-cells
#14
Yee-Ki Lee, Yee-Man Lau, Zhu-Jun Cai, Wing-Hon Lai, Lai-Yung Wong, Hung-Fat Tse, Kwong-Man Ng, Chung-Wah Siu
BACKGROUND: Precision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients. Patient-specific human induced pluripotent stem cells hold promise to transform precision medicine into real-life clinical practice. Lamin A/C (LMNA)-related cardiomyopathy is the most common inherited cardiomyopathy in which a substantial proportion of mutations in the LMNA gene are of nonsense mutation...
July 28, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28751304/a-lipodystrophy-causing-lamin-a-mutant-alters-conformation-and-epigenetic-regulation-of-the-anti-adipogenic-mir335-locus
#15
Anja Oldenburg, Nolwenn Briand, Anita L Sørensen, Inswasti Cahyani, Akshay Shah, Jan Øivind Moskaug, Philippe Collas
Mutations in the Lamin A/C (LMNA) gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes. The lipodystrophy-associated LMNA p.R482W mutation is known to impair adipogenic differentiation, but the mechanisms involved are unclear. We show in this study that the lamin A p.R482W hot spot mutation prevents adipogenic gene expression by epigenetically deregulating long-range enhancers of the anti-adipogenic MIR335 microRNA gene in human adipocyte progenitor cells...
September 4, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28719467/pan-trk-immunohistochemistry-is-an-efficient-and-reliable-screen-for-the-detection-of-ntrk-fusions
#16
Jaclyn F Hechtman, Ryma Benayed, David M Hyman, Alexander Drilon, Ahmet Zehir, Denise Frosina, Maria E Arcila, Snjezana Dogan, David S Klimstra, Marc Ladanyi, Achim A Jungbluth
Activating neurotrophic tyrosine receptor kinase (NTRK) fusions, typically detected using nucleic-acid based assays, are highly targetable and define certain tumors. Here, we explore the utility of pan-TRK immunohistochemistry (IHC) to detect NTRK fusions. NTRK rearrangements were detected prospectively using MSK-IMPACT, a DNA-based next-generation sequencing assay. Transcription of novel NTRK rearrangements into potentially functional fusion transcripts was assessed via Archer Dx fusion assay. Pan-Trk IHC testing with mAb EPR17341 was performed on all NTRK rearranged cases and 20 cases negative for NTRK fusions on Archer...
July 17, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28708512/insulin-during-in%C3%A2-vitro-oocyte-maturation-has-an-impact-on-development-mitochondria-and-cytoskeleton-in-bovine-day-8-blastocysts
#17
Denise Laskowski, Renée Båge, Patrice Humblot, Göran Andersson, Marc-André Sirard, Ylva Sjunnesson
Insulin is a key metabolic hormone that controls energy homeostasis in the body, including playing a specific role in regulating reproductive functions. Conditions associated with hyperinsulinemia can lower developmental rates in bovine in vitro embryo production and are linked to decreased fertility in humans, as in cases of obesity or type 2 diabetes. Embryo quality is important for fertility outcome and it can be assessed by choosing scoring standards for various characteristics, such as developmental stage, quality grade, cell number, mitochondrial pattern or actin cytoskeleton structure...
June 13, 2017: Theriogenology
https://www.readbyqxmd.com/read/28702670/lmna-knockout-mouse-embryonic-fibroblasts-are-less-contractile-than-their-wild-type-counterparts
#18
I A E W van Loosdregt, M A F Kamps, C W J Oomens, S Loerakker, J L V Broers, C V C Bouten
In order to maintain tissue homeostasis and functionality, adherent cells need to sense and respond to environmental mechanical stimuli. An important ability that adherent cells need in order to properly sense and respond to mechanical stimuli is the ability to exert contractile stress onto the environment via actin stress fibers. The actin stress fibers form a structural chain between the cells' environment via focal adhesions and the nucleus via the nuclear lamina. In case one of the links in this chain is missing or aberrant, contractile stress generation will be affected...
August 14, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#19
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28686329/juvenile-onset-generalized-lipodystrophy-due-to-a-novel-heterozygous-missense-lmna-mutation-affecting-lamin-c
#20
Nivedita Patni, Chao Xing, Anil K Agarwal, Abhimanyu Garg
The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. The proband, a 23-year-old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, developed diabetes, hypertriglyceridemia, hypertension and liver problems and died with complications of cirrhosis, and kidney failure...
September 2017: American Journal of Medical Genetics. Part A
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