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https://www.readbyqxmd.com/read/28550667/-clinical-features-and-risk-factors-for-recurrence-in-mucinous-breast-cancer
#1
L Lei, Z Z Chen, Y B Zheng, B Chen, X Wang, X J Wang
Objective: To investigate the clinicopathological characteristic and risk factors for recurrence in different subtypes of mucinous breast cancer(MBC). Methods: Clinical data of 97 MBC patients at Zhejiang Cancer Hospital from August 2005 to November 2012 were retrospectively analyzed. All of patients were divided into 3 subtypes according to the mucinous components in the tumors, named as partial mixed MBC with less than 50% of mucinous components, main mixed MBC where the mucinous component accounted for 50% to 90%, and pure MBC with more than 90% of mucinous components...
April 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28550387/correlation-of-c-met-expression-with-pd-l1-expression-in-metastatic-clear-cell-renal-cell-carcinoma-treated-by-sunitinib-first-line-therapy
#2
Solène-Florence Kammerer-Jacquet, Sarah Medane, Karim Bensalah, Jean-Christophe Bernhard, Mokrane Yacoub, Frantz Dupuis, Alain Ravaud, Grégory Verhoest, Romain Mathieu, Benoit Peyronnet, Angélique Brunot, Brigitte Laguerre, Alexandra Lespagnol, Jean Mosser, Frédéric Dugay, Marc-Antoine Belaud-Rotureau, Nathalie Rioux-Leclercq
BACKGROUND: Clear cell renal cell carcinoma (ccRCC) is highly metastatic. Cabozantinib, an anti-angiogenic tyrosine kinase inhibitor that targets c-MET, provided interesting results in metastatic ccRCC treatment. OBJECTIVE: To understand better the role of c-MET in ccRCC, we assessed its status in a population of patients with metastatic ccRCC. PATIENTS AND METHODS: For this purpose, tumor samples were analyzed for c-MET expression by immunohistochemistry (IHC), for c-MET copy number alterations by fluorescence in situ hybridization (FISH), and for c-MET mutations by next generation sequencing (NGS) in a retrospective cohort of 90 primary ccRCC of patients with metastases treated by first-line sunitinib...
May 26, 2017: Targeted Oncology
https://www.readbyqxmd.com/read/28550350/recent-advances-in-the-study-of-immunodeficiency-and-dna-damage-response
#3
REVIEW
Tomohiro Morio
DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious one. DNA damage response (DDR) is initiated when DSBs are detected, leading to DNA break repair by non-homologous end joining (NHEJ). The process is critically important for the generation of diversity for foreign antigens; and failure to exert DNA repair leads to immunodeficiency such as severe combined immunodeficiency and hyper-IgM syndrome...
May 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28550306/a-novel-somatic-transforming-mutation-in-the-extracellular-domain-of-epidermal-growth-factor-receptor-identified-in-myeloproliferative-neoplasm
#4
D A Casolari, T Nguyen, C M Butcher, D G Iarossi, C N Hahn, S C Bray, P Neufing, W T Parker, J Feng, K Z Y Maung, A Wee, L Vidovic, C H Kok, P G Bardy, S Branford, I D Lewis, S W Lane, H S Scott, D M Ross, R J D'Andrea
We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2(V617F) Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated with increased transforming potential. Aberrant signalling from the EGFR(C329R) receptor is cell type-dependent and in the TF1.8 erythroid cell line expression of this mutant suppresses EPO-induced differentiation...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#5
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550267/amyloid-precursor-protein-haploinsufficiency-preferentially-mediates-brain-iron-accumulation-in-mice-transgenic-for-the-huntington-s-disease-mutation
#6
Kiersten Berggren, Sonal Agrawal, Julia A Fox, Justin Hildenbrand, Ryan Nelson, Ashley I Bush, Jonathan H Fox
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder caused by a CAG expansion in the huntingtin gene that results in expression of mutant huntingtin protein. Iron accumulates in HD brain neurons. Amyloid precursor protein (APP) promotes neuronal iron export. However, the role of APP in brain iron accumulation in HD is unclear. OBJECTIVE: To determine the effects of APP insufficiency on HD in YAC128 mice. METHODS: We crossed APP hemizygous mice (APP+/-) with YAC128 mice that are transgenic (Tg) for human mutant huntingtin (hmHTT) to generate APP+/+ hmHTT-/-, APP+/- hmHTT-/-, APP+/+ hmHTT+/- and APP+/- hmHTT+/- progeny...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550254/precuneus-failures-in-subjects-of-the-psen1-e280a-family-at-risk-of-developing-alzheimer-s-disease-detected-using-quantitative-electroencephalography
#7
John Fredy Ochoa, Joan Francesc Alonso, Jon Edinson Duque, Carlos Andrés Tobón, Ana Baena, Francisco Lopera, Miguel Angel Mañanas, Alher Mauricio Hernández
BACKGROUND: Presenilin-1 (PSEN1) mutations are the most common cause of familial early onset Alzheimer's disease (AD). The PSEN1 E280A (E280A) mutation has an autosomal dominant inheritance and is involved in the production of amyloid-β. The largest family group of carriers with E280A mutation is found in Antioquia, Colombia. The study of mutation carriers provides a unique opportunity to identify brain changes in stages previous to AD. Electroencephalography (EEG) is a low cost and minimally invasiveness technique that enables the following of brain changes in AD...
May 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550247/two-novel-mutations-in-the-first-transmembrane-domain-of-presenilin1-cause-young-onset-alzheimer-s-disease
#8
Collin Y Liu, Yu Ohki, Taisuke Tomita, Satoko Osawa, Bruce R Reed, William Jagust, Victoria Van Berlo, Lee-Way Jin, Helena C Chui, Giovanni Coppola, John M Ringman
BACKGROUND: The presenilin-1 protein (PS1) is the catalytic unit of γ-secretase implicated in the production of abnormally long forms of amyloid-β (Aβ), including Aβ42, proteins thought critical in the pathogenesis of Alzheimer's disease (AD). In AD of autosomal dominant inheritance, the majority of pathogenic mutations have been found in the PSEN1 gene within which the location of the mutation can provide clues as to the mechanism of pathogenesis. OBJECTIVE: To describe clinical features of two novel mutations in the transmembrane portion 1 (TMD-1) of PSEN1 as well as biochemical features in one and neuropathological findings in the other...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550193/jak1-somatic-mutation-in-a-myeloproliferative-neoplasm
#9
Suzanne O Arulogun, Hock-Lai Choong, Debbie Taylor, Paula Ambrosoli, Graham Magor, Ian M Irving, Tee-Beng Keng, Andrew C Perkins
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28550190/patient-derived-anti-%C3%AE-2gp1-antibodies-recognize-a-peptide-motif-pattern-and-not-a-specific-sequence-of-residues
#10
Philippe de Moerloose, Céline Fickentscher, Françoise Boehlen, Jean-Marie Tiercy, Egbert K O Kruithof, Karim J Brandt
Antiphospholipid antibody syndrome is an autoimmune disease characterized by the presence of so-called antiphospholipid antibodies and clinical manifestations such as recurrent thromboembolic or pregnancy complications. Although the main antigenic determinant for antiphospholipid antibodies has been identified as the beta-2-glycoprotein 1 (β2GP1), the precise epitope recognized by antiphospholipid antibodies still remains largely unknown. In the present study, we wanted to identify a sequence in the domain I of β2GP1 able to induce the proliferation of CD4+ T cells isolated from antiphospholipid antibody syndrome patients but not from healthy donors and to interact with antiphospholipid antibodies...
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28550186/mutations-in-the-3-untranslated-region-3-utr-of-notch1-are-associated-with-low-cd20-expression-levels-in-chronic-lymphocytic-leukemia
#11
Tamara Bittolo, Federico Pozzo, Riccardo Bomben, Tiziana D'Agaro, Vanessa Bravin, Pietro Bulian, Francesca Maria Rossi, Antonella Zucchetto, Massimo Degan, Paolo Macor, Giovanni D'Arena, Annalisa Chiarenza, Francesco Zaja, Gabriele Pozzato, Francesco Di Raimondo, Davide Rossi, Gianluca Gaidano, Giovanni Del Poeta, Valter Gattei, Michele Dal Bo
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28550183/somatic-mutation-spectrum-in-monoclonal-gammopathy-of-undetermined-significance-indicates-a-less-complex-genomic-landscape-compared-to-multiple-myeloma
#12
Aneta Mikulasova, Christopher P Wardell, Alexander Murison, Eileen M Boyle, Graham H Jackson, Jan Smetana, Zuzana Kufova, Ludek Pour, Viera Sandecka, Martina Almasi, Pavla Vsianska, Evzen Gregora, Petr Kuglik, Roman Hajek, Faith E Davies, Gareth J Morgan, Brian A Walker
Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS genes mutations, little is known about the molecular mechanism of malignant transformation. We have performed whole exome sequencing together with CGH+SNP array analysis in 33 flow-cytometry separated abnormal plasma cell samples from MGUS patients to describe somatic gene mutations and chromosome changes at the genome-wide level...
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28550180/a-novel-de-novo-mutation-in-prkag2-gene-infantile-onset-phenotype-and-signaling-pathway-involved
#13
Yanchun Xu, Alex Gray, David Grahame Hardie, Alper Uzun, Sunil Shaw, James F Padbury, Chanika Phornphutkul, Yi-Tang Tseng
PRKAG2 encodes the γ2-subunit isoform of the 5' AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in regulation of energy metabolism in response to cellular stress. Mutations in PRKAG2 have been implicated in a unique hypertrophic cardiomyopathy (HCM) characterized by cardiac glycogen overload, ventricular preexcitation and hypertrophy. We identified a novel, de novo PRKAG2 mutation (K475E) in a neonate with prenatal onset of HCM. We aimed to investigate the cellular impact, signaling pathways involved and therapeutic options for K475E mutation using cells stably expressing human wild type (WT) or the K475E mutant...
May 26, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28550176/mechanical-behavior-and-matrisome-gene-expression-in-aneurysm-prone-thoracic-aorta-of-newborn-lysyl-oxidase-knockout-mice
#14
Marius Catalin Staiculescu, Jungsil Kim, Robert P Mecham, Jessica Wagenseil
Mutations in lysyl oxidase (LOX) are associated with thoracic aortic aneurysm and dissection (TAAD). Mice that do not express Lox (Lox(-/-)) die soon after birth and have 60% and 40% reductions in elastin- and collagen-specific crosslinks, respectively. LOX inactivation could also change the expression of secreted factors, structural matrix, and matrix-associated proteins that constitute the aortic matrisome. We hypothesize that the absence of Lox will change the mechanical behavior of the aortic wall due to reduced elastin and collagen crosslinking and alter the expression levels of matrisome and smooth muscle cell (SMC) genes in a vascular location-specific manner...
May 26, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28550166/lysine-acetylome-analysis-reveals-photosystem-ii-manganese-stabilizing-protein-acetylation-is-involved-in-negative-regulation-of-oxygen-evolution-in-model-cyanobacterium-synechococcus-sp-pcc-7002
#15
Zhuo Chen, Guiying Zhang, Mingkun Yang, Tao Li, Feng Ge, Jindong Zhao
Nϵ-Acetylation of lysine residues represents a frequently occurring post-translational modification widespread in bacteria that plays vital roles in regulating bacterial physiology and metabolism. However, the role of lysine acetylation in cyanobacteria remains unclear, presenting a hurdle to in-depth functional study of this post-translational modification. Here, we report the lysine acetylome of Synechococcus sp. PCC 7002 (hereafter Synechococcus) using peptide prefractionation, immunoaffinity enrichment, and coupling with high-precision liquid chromatography-tandem mass spectrometry analysis...
May 26, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28550161/lymphoid-differentiation-of-hematopoietic-stem-cells-requires-efficient-cxcr4-desensitization
#16
Christelle Freitas, Monika Wittner, Julie Nguyen, Vincent Rondeau, Vincent Biajoux, Marie-Laure Aknin, Françoise Gaudin, Sarah Beaussant-Cohen, Yves Bertrand, Christine Bellanné-Chantelot, Jean Donadieu, Françoise Bachelerie, Marion Espéli, Ali Dalloul, Fawzia Louache, Karl Balabanian
The CXCL12/CXCR4 signaling exerts a dominant role in promoting hematopoietic stem and progenitor cell (HSPC) retention and quiescence in bone marrow. Gain-of-function CXCR4 mutations that affect homologous desensitization of the receptor have been reported in the WHIM Syndrome (WS), a rare immunodeficiency characterized by lymphopenia. The mechanisms underpinning this remain obscure. Using a mouse model with a naturally occurring WS-linked gain-of-function Cxcr4 mutation, we explored the possibility that the lymphopenia in WS arises from defects at the HSPC level...
May 26, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28550066/rapid-whole-genome-sequencing-identifies-a-novel-homozygous-npc1-variant-associated-with-niemann-pick-type-c1-disease-in-a-7-week-old-male-with-cholestasis
#17
Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Serge Batalov, David M Dimmock, Rcigm Investigators, Stephen F Kingsmore
Niemann-Pick Type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. While characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction due to intrahepatocyte lipid accumulation. We report a 7 week old who was admitted with neonatal cholestasis, who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole genome sequencing (WGS)...
May 26, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28550065/exceptional-durable-response-to-everolimus-in-a-patient-with-biphenotypic-breast-cancer-harboring-an-stk11-variant
#18
Christine A Parachoniak, Andrew Rankin, Bernadette Gaffney, Ryan Hartmaier, Dan Spritz, Rachel L Erlich, Vincent A Miller, Deborah Morosini, Phil Stephens, Jeffrey S Ross, John Keech, Juliann Chmielecki
Metastatic triple negative breast cancer comprises 12-17% of breast cancers and carries a poor prognosis relative to other breast cancer subtypes. Treatment options in this disease are largely limited to systemic chemotherapy. A majority of clinical studies assessing efficacy of targeted therapeutics (e.g. the mTOR inhibitor everolimus) in advanced breast cancer patients have not utilized predictive genomic biomarker-based selection and have reported only modest improvement in clinical outcome relative to standard of care...
May 26, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28550064/transient-silencing-of-dna-repair-genes-improves-targeted-gene-integration-in-the-filamentous-fungus-trichoderma-reesei
#19
Pak Yang Chum, Georg Schmidt, Markku Saloheimo, Christopher P Landowski
Trichoderma reesei is a filamentous fungus that is used world-wide to produce industrial enzymes. Industrial strains have traditionally been created though systematic strain improvement by mutagenesis and screening approaches. It is also desirable to specifically manipulate genes of the organism to further improve and modify the strain. Targeted integration in filamentous fungi is typically hampered by very low frequencies of homologous recombination. To address this limitation we have developed a simple transient method for silencing genes in T...
May 26, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28550061/the-lectin-chaperone-calnexin-is-involved-in-endoplasmic-reticulum-stress-response-by-regulating-ca-2-homeostasis-in-aspergillus-nidulans
#20
Shenghua Zhang, Hailin Zheng, Qiuyi Chen, Yuan Chen, Sha Wang, Ling Lu, Shizhu Zhang
The Ca(2+)-mediated signaling pathway is crucial for environmental adaptation in fungi. Here we show that calnexin, a molecular chaperone located in the endoplasmic reticulum (ER), plays an important role in regulating cytosolic free calcium concentration ([Ca(2+)]c) in Aspergillus nidulans Inactivation of calnexin (ClxA) in A. nidulans caused severe defects in hyphal growth and conidiation under ER stress caused by the ER-stress inducing agent dithiothreitol (DTT) or high temperature. Importantly, defects in the ΔclxA mutant were restored by the addition of extracellular calcium...
May 26, 2017: Applied and Environmental Microbiology
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