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https://www.readbyqxmd.com/read/28240000/endometriosis-and-ovarian-cancer-an-integrative-review-endometriosis-and-ovarian-cancer
#1
Aline Veras Morais Brilhante, Kathiane Lustosa Augusto, Manuela Cavalcante Portela, Luiz Carlos Gabriele Sucupira, Luiz Adriano Freitas Oliveira, Ana Juariana Magalhães Veríssimo Pouchaim, Lívia Rocha Mesquita Nóbrega, Thaís Fontes de Magalhães, Leonardo Robson Pinheiro Sobreira
Despite being initially considered a benign disease, it is widely thought nowadays that endometriosis and especially ovarian endometriomas are neoplastic conditions with the potential to become malignant. This review was conducted to summarize, in a concise and systematic manner, the available scientific data relating endometriosis to ovarian cancer, published in the past five years. After reading abstracts and applying our predefined inclusion and exclusion criteria, a final list of 11 scientific papers was obtained and subjected to review...
1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28239999/glioblastoma-multiforme-a-review-of-its-epidemiology-and-pathogenesis-through-clinical-presentation-and-treatment
#2
Farina Hanif, Kanza Muzaffar, Kahkashan Perveen, Saima M Malhi, Shabana U Simjee
Glioblastoma multiforme (GBM) is one of the most malignant types of central nervous system tumors. Despite advances in treatment modalities it remains largely incurable. The objective of our review is to provide a holistic picture of GBM epidemiology, etiology, pathogenesis, clinical findings and treatment. A literature search was conducted for GBM at PubMed and Google Scholar, with relevant key words like glioblastoma multiforme, pathogenesis, signs and symptoms, treatment etc., and papers published until 2015 were reviewed...
1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28239884/mutations-in-aagab-underlie-autosomal-dominant-punctate-palmoplantar-keratoderma
#3
N Dinani, M Ali, L Liu, J McGrath, J Mellerio
Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.
February 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28239780/sesamin-extends-lifespan-through-pathways-related-to-dietary-restriction-in-caenorhabditis-elegans
#4
Yumiko Nakatani, Yukie Yaguchi, Tomomi Komura, Masakazu Nakadai, Kenji Terao, Eriko Kage-Nakadai, Yoshikazu Nishikawa
PURPOSE: Sesamin, a polyphenolic compound found in sesame seeds, has been reported to exert a variety of beneficial health effects. We have previously reported that sesamin increases the lifespan of Caenorhabditis elegans. In this study, we investigated the molecular mechanisms underlying the longevity effect of sesamin in C. elegans. METHODS: Starting from three days of age, Caenorhabditis elegans animals were fed a standard diet alone or supplemented with sesamin...
February 26, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28239602/first-case-of-cd40lg-deficiency-in-ecuador-diagnosed-after-whole-exome-sequencing-in-a-patient-with-severe-cutaneous-histoplasmosis
#5
Luis Alberto Pedroza, Nina Guerrero, Asbjørg Stray-Pedersen, Cristina Tafur, Roque Macias, Greta Muñoz, Zeynep Coban Akdemir, Shalini N Jhangiani, Levi B Watkin, Ivan K Chinn, James R Lupski, Jordan S Orange
Severe infections with Histoplasma capsulatum are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an indel mutation at the CD40LG gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28239551/genome-wide-chromatin-accessibility-dna-methylation-and-gene-expression-analysis-of-histone-deacetylase-inhibition-in-triple-negative-breast-cancer
#6
Matias A Bustos, Matthew P Salomon, Nellie Nelson, Sandy C Hsu, Maggie L DiNome, Dave S B Hoon, Diego M Marzese
Triple-negative breast cancer (TNBC), especially the subset with a basal phenotype, represents the most aggressive subtype of breast cancer. Unlike other solid tumors, TNBCs harbor a low number of driver mutations. Conversely, we and others have demonstrated a significant impact of epigenetic alterations, including DNA methylation and histone post-translational modifications, affecting TNBCs. Due to the promising results in pre-clinical studies, histone deacetylase inhibitors (HDACi) are currently being tested in several clinical trials for breast cancer and other solid tumors...
June 2017: Genomics Data
https://www.readbyqxmd.com/read/28239514/a-fragmented-adeno-associated-viral-dual-vector-strategy-for-treatment-of-diseases-caused-by-mutations-in-large-genes-leads-to-expression-of-hybrid-transcripts
#7
Michelle E McClements, Peter Charbel Issa, Véronique Blouin, Robert E MacLaren
OBJECTIVE: Dual vector AAV systems are being utilised to enable gene therapy for disorders in which the disease gene is too large to fit into a single capsid. Fragmented adeno-associated viral (fAAV) vectors containing single inverted terminal repeat truncated transgenes have been considered as one such gene replacement strategy. Here we aim to add to the current understanding of the molecular mechanisms employed by fAAV dual vector systems. METHODS: Oversized (>8kb) transgene constructs containing ABCA4 coding sequence were packaged as truncated fragments <5kb in size into various AAV serotypes...
November 14, 2016: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/28239445/maintenance-of-genome-stability-by-fanconi-anemia-proteins
#8
REVIEW
Anna Palovcak, Wenjun Liu, Fenghua Yuan, Yanbin Zhang
Persistent dysregulation of the DNA damage response and repair in cells causes genomic instability. The resulting genetic changes permit alterations in growth and proliferation observed in virtually all cancers. However, an unstable genome can serve as a double-edged sword by providing survival advantages in the ability to evade checkpoint signaling, but also creating vulnerabilities through dependency on alternative genomic maintenance factors. The Fanconi anemia pathway comprises an intricate network of DNA damage signaling and repair that are critical for protection against genomic instability...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28239370/capb2-expression-is-associated-with-staphylococcus-aureus-pathogenicity
#9
Dan Li, Yinjuan Guo, Shanshan Wang, Jingnan Lv, Xiuqin Qi, Zengqiang Chen, Lizhong Han, Xueqing Zhang, Liangxing Wang, Fangyou Yu
CapB2 is recognized as a tyrosine kinase and is likely a vital factor in extracellular polysaccharide synthesis in Staphylococcus aureus, but its pathogenicity function and regulatory mechanism remain obscure. Here, we demonstrate that CapB2 enhances bacterial virulence in a murine model. Mice infected with the wild type SA75 strain exhibited significantly larger (P < 0.05) skin lesions from days 4 to 7 of infection than those challenged with the capB2 mutant strain. The effect on virulence was reverted by restoring the capB2 mutation to the wild type...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28239357/increased-cell-proliferation-and-gene-expression-of-genes-related-to-bone-remodeling-cell-adhesion-and-collagen-metabolism-in-the-periodontal-ligament-of-unopposed-molars-in-growing-rats
#10
Domna Dorotheou, Vassiliki Farsadaki, Marie-Luce Bochaton-Piallat, Catherine Giannopoulou, Thanos D Halazonetis, Stavros Kiliaridis
Tooth eruption, the process by which teeth emerge from within the alveolar bone into the oral cavity, is poorly understood. The post-emergent phase of tooth eruption continues throughout life, in particular, if teeth are not opposed by antagonists. The aim of the present study was to better understand the molecular processes underlying post-emergent tooth eruption. Toward this goal, we removed the crowns of the maxillary molars on one side of the mouth of 14 young rats and examined gene expression patterns in the periodontal ligaments (PDLs) of the ipsilateral and contralateral mandibular molars, 3 and 15 days later...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28239331/csp%C3%AE-a-molecular-co-chaperone-essential-for-short-and-long-term-synaptic-maintenance
#11
Elena Lopez-Ortega, Rocío Ruiz, Lucia Tabares
Cysteine string protein α (CSPα) is a vesicle protein located in the presynaptic terminal of most synapses. CSPα is an essential molecular co-chaperone that facilitates the correct folding of proteins and the assembly of the exocytic machinery. The absence of this protein leads to altered neurotransmitter release and neurodegeneration in multiple model systems, from flies to mice. In humans, CSPα mutations are associated with the development of neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disease characterized by intracellular accumulation of lysosomal material...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28239068/complete-genome-sequence-of-pseudomonas-chlororaphis-subsp-aurantiaca-reveals-a-triplicate-quorum-sensing-mechanism-for-regulation-of-phenazine-production
#12
Tomohiro Morohoshi, Takahito Yamaguchi, Xiaonan Xie, Wen-Zhao Wang, Kasumi Takeuchi, Nobutaka Someya
Pseudomonas chlororaphis subsp. aurantiaca StFRB508 regulates phenazine production through N-acyl-l-homoserine lactone (AHL)-mediated quorum sensing. Two sets of AHL-synthase and AHL-receptor genes, phzI/phzR and aurI/aurR, have been identified from the incomplete draft genome of StFRB508. In the present study, the complete genome of StFRB508, comprising a single chromosome of 6,997,933 bp, was sequenced. The complete genome sequence revealed the presence of a third quorum-sensing gene set, designated as csaI/csaR...
February 25, 2017: Microbes and Environments
https://www.readbyqxmd.com/read/28239029/comprehensive-analysis-of-gene-mutation-and-expression-profiles-in-neuroendocrine-carcinomas-of-the-stomach
#13
Rie Makuuchi, Masanori Terashima, Masatoshi Kusuhara, Takashi Nakajima, Masakuni Serizawa, Keiichi Hatakeyama, Keiichi Ohshima, Kenichi Urakami, Ken Yamaguchi
The gene mutation and expression profiles of gastric neuroendocrine carcinoma (NEC) have not been comprehensively determined. Here, we examined the gene mutation and expression profiles of NEC using whole exome sequencing (WES) and microarray analysis. Six patients with gastric NEC and 13 with gastric adenocarcinoma (GAD) were included in this study. Single nucleotide variants were compared and multivariate statistical investigation with orthogonal partial least squares discriminant analysis (OPLS-DA) was performed to compare the difference in expression profiles between NEC and GAD...
2017: Biomedical Research
https://www.readbyqxmd.com/read/28238966/managing-lafora-body-disease-with-vagal-nerve-stimulation
#14
Mohamad A Mikati, Faysal Tabbara
A 17-year-old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic-clonic seizures, all of which were drug resistant. The diagnosis of Lafora body disease was made based on a compatible clinical, EEG, seizure semiology picture and a disease-causing homozygous mutation in the EPM2A gene. A vagus nerve stimulator (VNS) was inserted and well tolerated with a steady decrease and then stabilization in seizure frequency during the six months following insertion (months 1-6)...
February 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28238810/defect-in-dermatan-sulfate-in-urine-of-patients-with-ehlers-danlos-syndrome-caused-by-a-chst14-d4st1-deficiency
#15
Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, Kazuyuki Sugahara
PURPOSE: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas)...
February 23, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#16
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28238805/pharmacological-inhibition-of-lsd1-and-mtor-reduces-mitochondrial-retention-and-associated-ros-levels-in-the-red-blood-cells-of-sickle-cell-disease
#17
Ramasamy Jagadeeswaran, Benjamin A Vazquez, Muthusamy Thiruppathi, Balaji B Ganesh, Vinzon Ibanez, Shuaiying Cui, James D Engel, Alan M Diamond, Robert E Molokie, Joseph DeSimone, Donald Lavelle, Angela Rivers
Sickle cell disease (SCD), an inherited blood disorder caused by a point mutation that renders hemoglobin susceptible to polymerization when deoxygenated, affects millions of people worldwide. Manifestations of SCD include chronic hemolytic anemia, inflammation, painful vaso-occlusive crises, multisystem organ damage, and reduced life expectancy. Part of SCD pathophysiology is the excessive formation of intracellular reactive oxygen species (ROS) in SCD red blood cells (RBCs) which accelerates their hemolysis...
February 23, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28238550/diverse-non-genetic-allele-specific-expression-effects-shape-genetic-architecture-at-the-cellular-level-in-the-mammalian-brain
#18
Wei-Chao Huang, Elliott Ferris, Tong Cheng, Cornelia Stacher Hörndli, Kelly Gleason, Carol Tamminga, Janice D Wagner, Kenneth M Boucher, Jan L Christian, Christopher Gregg
Interactions between genetic and epigenetic effects shape brain function, behavior, and the risk for mental illness. Random X inactivation and genomic imprinting are epigenetic allelic effects that are well known to influence genetic architecture and disease risk. Less is known about the nature, prevalence, and conservation of other potential epigenetic allelic effects in vivo in the mouse and primate brain. Here we devise genomics, in situ hybridization, and mouse genetics strategies to uncover diverse allelic effects in the brain that are not caused by imprinting or genetic variation...
February 18, 2017: Neuron
https://www.readbyqxmd.com/read/28238547/hallmarks-of-alzheimer-s-disease-in-stem-cell-derived-human-neurons-transplanted-into-mouse-brain
#19
Ira Espuny-Camacho, Amaia M Arranz, Mark Fiers, An Snellinx, Kunie Ando, Sebastian Munck, Jerome Bonnefont, Laurie Lambot, Nikky Corthout, Lorna Omodho, Elke Vanden Eynden, Enrico Radaelli, Ina Tesseur, Selina Wray, Andreas Ebneth, John Hardy, Karelle Leroy, Jean-Pierre Brion, Pierre Vanderhaeghen, Bart De Strooper
Human pluripotent stem cells (PSCs) provide a unique entry to study species-specific aspects of human disorders such as Alzheimer's disease (AD). However, in vitro culture of neurons deprives them of their natural environment. Here we transplanted human PSC-derived cortical neuronal precursors into the brain of a murine AD model. Human neurons differentiate and integrate into the brain, express 3R/4R Tau splice forms, show abnormal phosphorylation and conformational Tau changes, and undergo neurodegeneration...
February 15, 2017: Neuron
https://www.readbyqxmd.com/read/28238546/regulation-of-thalamic-and-cortical-network-synchrony-by-scn8a
#20
Christopher D Makinson, Brian S Tanaka, Jordan M Sorokin, Jennifer C Wong, Catherine A Christian, Alan L Goldin, Andrew Escayg, John R Huguenard
Voltage-gated sodium channel (VGSC) mutations cause severe epilepsies marked by intermittent, pathological hypersynchronous brain states. Here we present two mechanisms that help to explain how mutations in one VGSC gene, Scn8a, contribute to two distinct seizure phenotypes: (1) hypoexcitation of cortical circuits leading to convulsive seizure resistance, and (2) hyperexcitation of thalamocortical circuits leading to non-convulsive absence epilepsy. We found that loss of Scn8a leads to altered RT cell intrinsic excitability and a failure in recurrent RT synaptic inhibition...
February 18, 2017: Neuron
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