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https://www.readbyqxmd.com/read/28749551/a-novel-allele-hla-b-27-149-identified-by-sequence-based-typing-in-a-chinese-individual
#1
J Wang, Y Zhang, Q Li, K Ru, X Wang
HLA-B*27:149 differs from HLA-B*27:04:01 (488C->T, exon 3, A139V).
July 27, 2017: HLA
https://www.readbyqxmd.com/read/28749476/the-wide-genetic-landscape-of-clinical-frontotemporal-dementia-systematic-combined-sequencing-of-121-consecutive-subjects
#2
Cornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, Iris E Jansen, Anika Reifschneider, Anja Capell, Christian Haass, Melissa Castillo-Lizardo, Saskia Biskup, Walter Maetzler, Patrizia Rizzu, Peter Heutink, Matthis Synofzik
PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ1-42 and serum progranulin measurements. Subjects were screened for C9orf72 repeat expansions, GRN and MAPT mutations, and, if negative, mutations in other neurodegenerative disease genes, by whole-exome sequencing (WES) (n = 108), including WES-based copy-number variant (CNV) analysis...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749461/dnmt1-maintained-hypermethylation-of-kr%C3%A3-ppel-like-factor-5-involves-in-the-progression-of-clear-cell-renal-cell-carcinoma
#3
Rong-Jie Fu, Wei He, Xiao-Bo Wang, Lei Li, Huan-Bin Zhao, Xiao-Ye Liu, Zhi Pang, Guo-Qiang Chen, Lei Huang, Ke-Wen Zhao
Clear cell renal cell carcinoma (ccRCC) is the major subtype of renal cell carcinoma (RCC) that is resistant to conventional radiation and chemotherapy. It is a challenge to explore effective therapeutic targets and drugs for this kind of cancer. Transcription factor Krüppel-like factor 5 (KLF5) exerts diverse functions in various tumor types. By analyzing cohorts of the Cancer Genome Atlas (TCGA) data sets, we find that KLF5 expression is suppressed in ccRCC patients and higher level of KLF5 expression is associated with better prognostic outcome...
July 27, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28748388/pls3-sequencing-in-childhood-onset-primary-osteoporosis-identifies-two-novel-disease-causing-variants
#4
A J Kämpe, A Costantini, R E Mäkitie, N Jäntti, H Valta, M Mäyränpää, H Kröger, M Pekkinen, F Taylan, H Jiao, O Mäkitie
Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. INTRODUCTION: The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features...
July 26, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28748342/non-canonical-idh1-and-idh2-mutations-a-clonal-and-relevant-event-in-an-italian-cohort-of-gliomas-classified-according-to-the-2016-world-health-organization-who-criteria
#5
Michela Visani, Giorgia Acquaviva, Gianluca Marucci, Alexandro Paccapelo, Antonella Mura, Enrico Franceschi, Daniela Grifoni, Annalisa Pession, Giovanni Tallini, Alba A Brandes, Dario de Biase
According to the 2016 World Health Organization (WHO) classification of tumors of the central nervous system, assessment of exon 4 mutations in isocitrate dehydrogenase 1 or 2 genes (IDH1 or IDH2) is an essential step in the characterization of gliomas. The p.R132H mutation is the most frequent alteration in IDH genes, however other non-canonical IDH mutations can be identified. The aim of this study is to investigate in depth the prevalence of non-R132H IDH ("non-canonical") mutations in brain tumors classified according to the 2016 WHO scheme and their clonal distribution in neoplastic cells...
July 26, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28747569/acquisition-of-the-t790m-resistance-mutation-during-afatinib-treatment-in-egfr-tyrosine-kinase-inhibitor-na%C3%A3-ve-patients-with-non-small-cell-lung-cancer-harboring-egfr-mutations
#6
Kentaro Tanaka, Kaname Nosaki, Kohei Otsubo, Koichi Azuma, Shinya Sakata, Hiroshi Ouchi, Ryotaro Morinaga, Hiroshi Wataya, Akiko Fujii, Noriaki Nakagaki, Nobuko Tsuruta, Masafumi Takeshita, Eiji Iwama, Taishi Harada, Yoichi Nakanishi, Isamu Okamoto
The T790M secondary mutation of the epidermal growth factor receptor (EGFR) gene accounts for 50% to 60% of cases of resistance to the first-generation EGFR tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib. The prevalence of T790M in EGFR mutation-positive patients who acquire resistance to the irreversible, second-generation EGFR-TKI afatinib has remained unclear, however. We here determined the frequency of T790M acquisition at diagnosis of progressive disease in patients with EGFR-mutated non-small cell lung cancer (NSCLC) treated with afatinib as first-line EGFR-TKI...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28747530/sequence-intrinsic-somatic-mutation-mechanisms-contribute-to-affinity-maturation-of-vrc01-class-hiv-1-broadly-neutralizing-antibodies
#7
Joyce K Hwang, Chong Wang, Zhou Du, Robin M Meyers, Thomas B Kepler, Donna Neuberg, Peter D Kwong, John R Mascola, M Gordon Joyce, Mattia Bonsignori, Barton F Haynes, Leng-Siew Yeap, Frederick W Alt
Variable regions of Ig chains provide the antigen recognition portion of B-cell receptors and derivative antibodies. Ig heavy-chain variable region exons are assembled developmentally from V, D, J gene segments. Each variable region contains three antigen-contacting complementarity-determining regions (CDRs), with CDR1 and CDR2 encoded by the V segment and CDR3 encoded by the V(D)J junction region. Antigen-stimulated germinal center (GC) B cells undergo somatic hypermutation (SHM) of V(D)J exons followed by selection for SHMs that increase antigen-binding affinity...
July 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28746393/dynamic-hyper-editing-underlies-temperature-adaptation-in-drosophila
#8
Ilana Buchumenski, Osnat Bartok, Reut Ashwal-Fluss, Varun Pandey, Hagit T Porath, Erez Y Levanon, Sebastian Kadener
In Drosophila, A-to-I editing is prevalent in the brain, and mutations in the editing enzyme ADAR correlate with specific behavioral defects. Here we demonstrate a role for ADAR in behavioral temperature adaptation in Drosophila. Although there is a higher level of editing at lower temperatures, at 29°C more sites are edited. These sites are less evolutionarily conserved, more disperse, less likely to be involved in secondary structures, and more likely to be located in exons. Interestingly, hypomorph mutants for ADAR display a weaker transcriptional response to temperature changes than wild-type flies and a highly abnormal behavioral response upon temperature increase...
July 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28746191/whole-exome-sequencing-unveils-a-frameshift-mutation-in-cngb3-for-cone-dystrophy-a-case-report-of-an-indian-family
#9
Shashank Gupta, Amit Chaurasia, Ekta Pathak, Rajeev Mishra, Vidya Nair Chaudhry, Prashaant Chaudhry, Ashim Mukherjee, Mousumi Mutsuddi
RATIONALE: Genetic elucidation of cone-dominated retinal dystrophies in Indian subcontinent is much needed to identify and catalog underlying genetic defects. In this context, the present study recruited a consanguineous Indian family affected with autosomal recessive cone dystrophy (CD). Considering the huge genetic heterogeneity and recessive inheritance of the disease, we chose to dissect out causal variant in this family by whole exome sequencing (WES). PATIENT CONCERNS: In the recruited family, three of the six siblings had complaints of poor visual acuity, photophobia, and disturbed colour vision since early childhood...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28745640/determination-of-sialic-acids-in-liver-and-milk-samples-of-wild-type-and-cmah-knock-out-mice
#10
Cui Cao, Wen J Wang, Ying Y Huang, Hong L Yao, Louis P Conway, Li Liu, Josef Voglmeir
CMAH (cytidine monophosphate-N-acetylneuraminic acid hydroxylase) is responsible for the oxidation of cytidine monophosphate-N-acetylneuraminic acids in mammals. However, humans cannot oxidize cytidine monophosphate-N-acetylneuraminic acid to cytidine monophosphate-N-glycolylneuraminic acid due to a primary exon deletion of the CMAH gene. To understand the effects and implications of the lack of CMAH activity in more detail, a Cmah knock-out model in mice is of keen interest in basic and applied research. The analysis method to determine the phenotype of this mouse model is herein described in detail, and is based on the detection of both N-acetylneuraminic acid and N-glycolylenuraminic acid in the liver and milk of wild-type and Cmah knock-out mice...
July 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28745320/surfactant-protein-d-inhibits-activation-of-non-small-cell-lung-cancer-associated-mutant-egfr-and-affects-clinical-outcomes-of-patients
#11
Y Umeda, Y Hasegawa, M Otsuka, S Ariki, R Takamiya, A Saito, Y Uehara, H Saijo, K Kuronuma, H Chiba, H Ohnishi, Y Sakuma, H Takahashi, Y Kuroki, M Takahashi
Tyrosine kinase inhibitor (TKI)-sensitive and TKI-resistant mutations of epidermal growth factor receptor (EGFR) are associated with lung adenocarcinoma. EGFR mutants were previously shown to exhibit ligand-independent activation. We have previously demonstrated that pulmonary surfactant protein D (SP-D, SFTPD) suppressed wild-type EGFR signaling by blocking ligand binding to EGFR. We herein demonstrate that SFTPD downregulates ligand-independent signaling in cells harboring EGFR mutations such as TKI-sensitive exon 19 deletion (Ex19del) and L858R mutation as well as TKI-resistant T790M mutation, subsequently suppressing cellular growth and motility...
July 24, 2017: Oncogene
https://www.readbyqxmd.com/read/28745312/splicing-phasing-alternative-exons
#12
Eytan Zlotorynski
No abstract text is available yet for this article.
July 26, 2017: Nature Reviews. Molecular Cell Biology
https://www.readbyqxmd.com/read/28743736/sfpq-a-multifunctional-nuclear-protein-regulates-the-transcription-of-pde3a
#13
Dong Keun Rhee, Steven C Hockman, Sun-Kyung Choi, Yong-Eun Kim, Chungoo Park, Vincent C Manganiello, Kee Kwang Kim
Phosphodiesterase 3A (PDE3A), a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (PDE) family, plays important roles in oocyte maturation and vascular smooth muscle cell proliferation. However, the molecular mechanisms that regulate PDE3A gene expression remain largely unknown. In this study, we investigated the transcriptional regulation of PDE3A , and found that the splicing factor proline and glutamine rich (SFPQ) protein modulated PDE3A mRNA levels. Multiple transcription start sites (TSS1, 2, and 3) were identified within the first exon of PDE3A using 5'-rapid amplification of cDNA ends (RACE)...
July 25, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28743687/tp73-dna-methylation-and-upregulation-of-%C3%AE-np73-are-associated-with-an-adverse-prognosis-in-breast-cancer
#14
Laura C Gomez, Mayra L Sottile, Martin E Guerrero-Gimenez, Felipe C M Zoppino, Analia L Redondo, Francisco E Gago, Javier I Orozco, Olga M Tello, Maria Roqué, Silvina B Nadin, Diego M Marzese, Laura M Vargas-Roig
AIM: Accumulated evidence suggests that aberrant methylation of the TP73 gene and increased levels of ΔNp73 in primary tumours correlate with poor prognosis. However, little is known regarding the transcriptional and functional regulation of the TP73 gene in breast cancer. The aim of the present study was to determine the expression of the ΔNp73 isoform, its relationship with DNA methylation of TP73 and their clinical prognostic significance in breast cancer patients. METHODS: TP73 gene methylation was studied in TCGA datasets and in 70 invasive ductal breast carcinomas (IDCs)...
July 25, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28743675/role-of-nmd-and-nas-in-the-mrna-pattern-of-two-new-%C3%AE-thalassemia-mutants
#15
Giovanna Cardiero, Clelia Scarano, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Sabrina Dembech, Gaetana La Porta, Maria Grazia Bisconte, Rosario Colella, Giuseppina Lacerra
The α-thalassemia is a common disease due in prevalence to deletional mutants. We have identified two new α-thalassemia pointform mutants: α1 cod22 GGC > GGT Gly > Gly creating a 5' splicing sequence and: α1 cod23 GAG >TAG Glu > stop. We perform a qualitative and semi-quantitative analysis of the mRNA molecules, from blood of the carriers, to define the molecular mechanisms giving rise to thalassemia phenotype. In vitro analysis using minigenes and cycloheximide was performed to evaluate if the mutants are substrate of nonsense-mediated mRNA decay...
July 22, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28743543/a-recurrent-synonymous-mutation-in-the-human-androgen-receptor-gene-causing-complete-androgen-insensitivity-syndrome
#16
Rafael Loch Batista, Andresa di Santi Rodrigues, Mirian Yumie Nishi, Nathalia Lisboa Rosa Almeida Gomes, José Antonio Diniz Faria, Daniela Rodrigues de Moraes, Luciani Renata Carvalho, Elaine Maria Costa Frade, Sorahia Domenice, Berenice Bilharinho de Mendonca
Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS)...
July 22, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28743452/transcriptional-profiles-for-distinct-aggregation-states-of-mutant-huntingtin-exon-1-protein-unmask-new-huntington-s-disease-pathways
#17
Nagaraj S Moily, Angelique R Ormsby, Aleksandar Stojilovic, Yasmin M Ramdzan, Jeannine Diesch, Ross D Hannan, Michelle S Zajac, Anthony J Hannan, Alicia Oshlack, Danny M Hatters
Huntington's disease is caused by polyglutamine (polyQ)-expansion mutations in the CAG tandem repeat of the Huntingtin gene. The central feature of Huntington's disease pathology is the aggregation of mutant Huntingtin (Htt) protein into micrometer-sized inclusion bodies. Soluble mutant Htt states are most proteotoxic and trigger an enhanced risk of death whereas inclusions confer different changes to cellular health, and may even provide adaptive responses to stress. Yet the molecular mechanisms underpinning these changes remain unclear...
July 22, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#18
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28743157/her2-mutations-in-lung-adenocarcinomas-a-report-from-the-lung-cancer-mutation-consortium
#19
Rathi N Pillai, Madhusmita Behera, Lynne D Berry, Mike R Rossi, Mark G Kris, Bruce E Johnson, Paul A Bunn, Suresh S Ramalingam, Fadlo R Khuri
BACKGROUND: Human epidermal growth factor receptor 2 (HER2) mutations have been reported in lung adenocarcinomas. Herein, the authors describe the prevalence, clinical features, and outcomes associated with HER2 mutations in 1007 patients in the Lung Cancer Mutation Consortium (LCMC). METHODS: Patients with advanced-stage lung adenocarcinomas were enrolled to the LCMC. Tumor specimens were assessed for diagnosis and adequacy; multiplexed genotyping was performed in Clinical Laboratory Improvement Amendments (CLIA)-certified laboratories to examine 10 oncogenic drivers...
July 25, 2017: Cancer
https://www.readbyqxmd.com/read/28742821/evolution-of-the-camp-dependent-protein-kinase-pka-catalytic-subunit-isoforms
#20
Kristoffer Søberg, Line Victoria Moen, Bjørn Steen Skålhegg, Jon Kristen Laerdahl
The 3',5'-cyclic adenosine monophosphate (cAMP)-dependent protein kinase, or protein kinase A (PKA), pathway is one of the most versatile and best studied signaling pathways in eukaryotic cells. The two paralogous PKA catalytic subunits Cα and Cβ, encoded by the genes PRKACA and PRKACB, respectively, are among the best understood model kinases in signal transduction research. In this work, we explore and elucidate the evolution of the alternative 5' exons and the splicing pattern giving rise to the numerous PKA catalytic subunit isoforms...
2017: PloS One
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