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https://www.readbyqxmd.com/read/28651379/klf4-is-a-tumor-suppressor-in-anaplastic-meningioma-stem-like-cells-and-human-meningiomas
#1
Hailiang Tang, Xuanchun Wang, Hongda Zhu, Lingyang Hua, Jingrun Li, Qing Xie, Xiancheng Chen, Tao Zhang, Ye Gong
Meningiomas are the most common primary tumors in central nervous system. While recent studies have revealed genetic clues to lower grade human meningiomas, the molecular determinants driving the progression and recurrence of anaplastic meningioma, the most malignant subtype with a low prevalence but high morbidity, are still poorly understood. It has been proposed that high recurrence rates of malignant meningiomas are linked to cancer stem cells. Indeed, tumor stem-like cells have been isolated from various meningioma subtypes, but never been obtained from anaplastic meningioma...
June 26, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28651073/hemophilia-a-inhibitor-treatment-the-promise-of-engineered-t-cell-therapy
#2
REVIEW
Kalpana Parvathaneni, Maha Abdeladhim, Kathleen P Pratt, David W Scott
Hemophilia A is a bleeding disorder caused by mutations in the gene encoding factor VIII (FVIII), a cofactor protein that is essential for normal blood clotting. Approximately, 1 in 3 patients with severe hemophilia A produce neutralizing antibodies (inhibitors) that block its biologic function in the clotting cascade. Current efforts to eliminate inhibitors consist of repeated FVIII injections under what is termed an "ITI" protocol (Immune Tolerance Induction). However, this method is extremely costly and approximately 30% of patients undergoing ITI do not achieve peripheral tolerance...
June 9, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28651013/loss-of-prion-protein-induces-a-primed-state-of-type-i-interferon-responsive-genes
#3
Giulia Malachin, Malin R Reiten, Øyvind Salvesen, Håvard Aanes, Jorke H Kamstra, Kerstin Skovgaard, Peter M H Heegaard, Cecilie Ersdal, Arild Espenes, Michael A Tranulis, Maren K Bakkebø
The cellular prion protein (PrPC) has been extensively studied because of its pivotal role in prion diseases; however, its functions remain incompletely understood. A unique line of goats has been identified that carries a nonsense mutation that abolishes synthesis of PrPC. In these animals, the PrP-encoding mRNA is rapidly degraded. Goats without PrPC are valuable in re-addressing loss-of-function phenotypes observed in Prnp knockout mice. As PrPC has been ascribed various roles in immune cells, we analyzed transcriptomic responses to loss of PrPC in peripheral blood mononuclear cells (PBMCs) from normal goat kids (n = 8, PRNP+/+) and goat kids without PrPC (n = 8, PRNPTer/Ter) by mRNA sequencing...
2017: PloS One
https://www.readbyqxmd.com/read/28650966/insecticide-resistance-to-permethrin-and-malathion-and-associated-mechanisms-in-aedes-aegypti-mosquitoes-from-st-andrew-jamaica
#4
Sheena Francis, Karla Saavedra-Rodriguez, Rushika Perera, Mark Paine, William C Black, Rupika Delgoda
The emergence of novel diseases spread by the Aedes aegypti mosquito in Jamaica and the Caribbean, has prompted studies on insecticide resistance towards effective management of the vector. Though Jamaica has been using the organophosphate insecticide malathion in its vector control program for more than 30 years, resistance to the pesticide has not been tested in over a decade. We analyzed resistance to malathion and the pyrethroid insecticide, permethrin on mosquitoes collected across St. Andrew, Jamaica, and analyzed the molecular basis of resistance...
2017: PloS One
https://www.readbyqxmd.com/read/28650955/netnorm-capturing-cancer-relevant-information-in-somatic-exome-mutation-data-with-gene-networks-for-cancer-stratification-and-prognosis
#5
Marine Le Morvan, Andrei Zinovyev, Jean-Philippe Vert
Genome-wide somatic mutation profiles of tumours can now be assessed efficiently and promise to move precision medicine forward. Statistical analysis of mutation profiles is however challenging due to the low frequency of most mutations, the varying mutation rates across tumours, and the presence of a majority of passenger events that hide the contribution of driver events. Here we propose a method, NetNorM, to represent whole-exome somatic mutation data in a form that enhances cancer-relevant information using a gene network as background knowledge...
June 26, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#6
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#7
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28650885/aggressive-imaging-features-in-a-malignant-pheochromocytoma-with-a-novel-mutation-of-the-sdhb-gene
#8
Soon-Ah Park, Dae Ho Lee, Hun Soo Kim
We describe a 15-year-old boy with a huge bilateral adrenal pheochromocytoma that had a de novo germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. F-FDG PET/CT revealed bilateral metabolically active large masses in the adrenal glands and the activated brown adipose tissues. The I-MIBG scintigraphic findings revealed only a mild accumulation of MIBG in the right adrenal mass, but a high uptake in the left adrenal mass. Thus, F-FDG PET/CT imaging may be more effective than I-MIBG scintigraphy for the evaluation of pheochromocytomas that are associated with highly malignant characteristics resulting from mutations of the SDHB gene...
June 24, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#9
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28650719/computational-investigation-on-the-effects-of-h50q-and-g51d-mutations-on-the-%C3%AE-synuclein-aggregation-propensity
#10
Airy Sanjeev, Venkata Satish Kumar Mattaparthi
The aggregation of α-synuclein is linked directly to the histopathology of Parkinson's disease (PD). However, several missense mutations present in the α-synuclein gene (SNCA) have been known to be associated with PD. Several studies have highlighted the effect of SNCA mutations on the α-synuclein aggregation, but their pathological roles are not completely established. In this study, we have focused on the effects of the recently discovered α-synuclein missense mutants (H50Q and G51D) on the aggregation using computational approaches...
June 26, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28650588/genetic-study-of-the-braf-gene-reveals-a-new-variants-and-high-frequency-of-the-v600e-mutation-among-iranian-ameloblastoma-patients
#11
Maryam Soltani, Mohammad Amin Tabatabaiefar, Zhaleh Mohsenifar, Mohammad Reza Pourreza, Abbas Moridnia, Laleh Shariati, Seyyed Mohammad Razavi
BACKGROUND: Ameloblastoma is a benign, slow-growing, locally invasive tumor. It is one of the most prevalent odontogenic tumors, with an incidence rate of 1% of all oral tumors and approximately 18% of odontogenic tumors. A group of genes has been investigated in patients with ameloblastoma. The BRAF V600E mutation has been implicated as the most common mutation in ameloblastoma. The presence or absence of this mutation has been associated with several clinopathological properties, including location, age at diagnosis, histology, and prognosis...
June 26, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28650485/neuroblastoma-is-composed-of-two-super-enhancer-associated-differentiation-states
#12
Tim van Groningen, Jan Koster, Linda J Valentijn, Danny A Zwijnenburg, Nurdan Akogul, Nancy E Hasselt, Marloes Broekmans, Franciska Haneveld, Natalia E Nowakowska, Johannes Bras, Carel J M van Noesel, Aldo Jongejan, Antoine H van Kampen, Linda Koster, Frank Baas, Lianne van Dijk-Kerkhoven, Margriet Huizer-Smit, Maria C Lecca, Alvin Chan, Arjan Lakeman, Piet Molenaar, Richard Volckmann, Ellen M Westerhout, Mohamed Hamdi, Peter G van Sluis, Marli E Ebus, Jan J Molenaar, Godelieve A Tytgat, Bart A Westerman, Johan van Nes, Rogier Versteeg
Neuroblastoma and other pediatric tumors show a paucity of gene mutations, which has sparked an interest in their epigenetic regulation. Several tumor types include phenotypically divergent cells, resembling cells from different lineage development stages. It has been proposed that super-enhancer-associated transcription factor (TF) networks underlie lineage identity, but the role of these enhancers in intratumoral heterogeneity is unknown. Here we show that most neuroblastomas include two types of tumor cells with divergent gene expression profiles...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650484/insertional-mutagenesis-identifies-drivers-of-a-novel-oncogenic-pathway-in-invasive-lobular-breast-carcinoma
#13
Sjors M Kas, Julian R de Ruiter, Koen Schipper, Stefano Annunziato, Eva Schut, Sjoerd Klarenbeek, Anne Paulien Drenth, Eline van der Burg, Christiaan Klijn, Jelle J Ten Hoeve, David J Adams, Marco J Koudijs, Jelle Wesseling, Micha Nethe, Lodewyk F A Wessels, Jos Jonkers
Invasive lobular carcinoma (ILC) is the second most common breast cancer subtype and accounts for 8-14% of all cases. Although the majority of human ILCs are characterized by the functional loss of E-cadherin (encoded by CDH1), inactivation of Cdh1 does not predispose mice to develop mammary tumors, implying that mutations in additional genes are required for ILC formation in mice. To identify these genes, we performed an insertional mutagenesis screen using the Sleeping Beauty transposon system in mice with mammary-specific inactivation of Cdh1...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650482/the-contribution-of-rare-variants-to-risk-of-schizophrenia-in-individuals-with-and-without-intellectual-disability
#14
Tarjinder Singh, James T R Walters, Mandy Johnstone, David Curtis, Jaana Suvisaari, Minna Torniainen, Elliott Rees, Conrad Iyegbe, Douglas Blackwood, Andrew M McIntosh, Georg Kirov, Daniel Geschwind, Robin M Murray, Marta Di Forti, Elvira Bramon, Michael Gandal, Christina M Hultman, Pamela Sklar, Aarno Palotie, Patrick F Sullivan, Michael C O'Donovan, Michael J Owen, Jeffrey C Barrett
By performing a meta-analysis of rare coding variants in whole-exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near-complete depletion of loss-of-function variants. In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650474/an-activating-mutation-of-gnb1-is-associated-with-resistance-to-tyrosine-kinase-inhibitors-in-etv6-abl1-positive-leukemia
#15
O Zimmermannova, E Doktorova, J Stuchly, V Kanderova, D Kuzilkova, H Strnad, J Starkova, M Alberich-Jorda, J H F Falkenburg, J Trka, J Petrak, J Zuna, M Zaliova
Leukemias harboring the ETV6-ABL1 fusion represent a rare subset of hematological malignancies with unfavorable outcomes. The constitutively active chimeric Etv6-Abl1 tyrosine kinase can be specifically inhibited by tyrosine kinase inhibitors (TKIs). Although TKIs represent an important therapeutic tool, so far, the mechanism underlying the potential TKI resistance in ETV6-ABL1-positive malignancies has not been studied in detail. To address this issue, we established a TKI-resistant ETV6-ABL1-positive leukemic cell line through long-term exposure to imatinib...
June 26, 2017: Oncogene
https://www.readbyqxmd.com/read/28650382/hiv-drug-resistance-in-infants-increases-with-changing-pmtct-regimens
#16
Lisa K Poppe, Catherine Chunda-Liyoka, Eun Hee Kwon, Clement Gondwe, John T West, Chipepo Kankasa, Clement B Ndongmo, Charles Wood
OBJECTIVES: The objectives of this study were to determine HIV drug resistance prevalence in Zambian infants upon diagnosis, and to determine how changing prevention of mother-to-child transmission (PMTCT) regimens affect drug resistance. DESIGN: Dried blood spot (DBS) samples from infants in the Lusaka District of Zambia, obtained during routine diagnostic screening, were collected during four different years representing three different PMTCT treatment regimens...
June 23, 2017: AIDS
https://www.readbyqxmd.com/read/28650313/molecular-mechanisms-and-epidemiology-of-resistance-in-streptococcus-pneumoniae-in-the-middle-east-region
#17
Grace El Moujaber, Marwan Osman, Rayane Rafei, Fouad Dabboussi, Monzer Hamze
PURPOSE: Streptococcus pneumoniae is a commensal bacterium that normally colonizes the human nasopharyngeal cavity. Once disseminated, it can cause several diseases, ranging from non-invasive infections such as acute otitis media and sinusitis through to invasive infections with higher mortality, including meningitis and septicaemia. Since the identification of the first S. pneumoniae strain with decreased susceptibility to penicillin in the 1960s, antibiotic resistance among S. pneumoniae has increased disturbingly and the mechanisms of resistance have begun to unfold...
June 26, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28650276/highlights-of-the-san-antonio-breast-cancer-symposium-2016
#18
John R Benson, Ismail Jatoi
The 39th annual San Antonio Breast Cancer Symposium (SABCS) was convened in San Antonio, Texas, on 9-13 December 2016. More than 7000 clinicians and scientists from around the world participated in the symposium which featured a range of presentations and keynote talks pertaining to breast cancer screening, prevention, locoregional and systemic therapies. This two-part report highlights a selection of important studies presented at this premier breast cancer event with Part 1 focusing onmetastatic breast cancer, extended endocrine therapy and the prognostic significance of BRCA1/2 gene mutations...
June 26, 2017: Future Oncology
https://www.readbyqxmd.com/read/28649990/a-pan-cancer-genome-wide-analysis-reveals-tumour-dependencies-by-induction-of-nonsense-mediated-decay
#19
Zhiyuan Hu, Christopher Yau, Ahmed Ashour Ahmed
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. Although NMD-induced loss-of-function has been shown to contribute to the genesis of particular cancers, its global functional consequence in tumours has not been characterized. Here we develop an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas. We identify more than 73 K mutations that are predicted to elicit NMD (NMD-elicit). NMD-elicit mutations in tumour suppressor genes (TSGs) are associated with significant reduction in gene expression...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649985/attenuation-of-rna-polymerase-ii-pausing-mitigates-brca1-associated-r-loop-accumulation-and-tumorigenesis
#20
Xiaowen Zhang, Huai-Chin Chiang, Yao Wang, Chi Zhang, Sabrina Smith, Xiayan Zhao, Sreejith J Nair, Joel Michalek, Ismail Jatoi, Meeghan Lautner, Boyce Oliver, Howard Wang, Anna Petit, Teresa Soler, Joan Brunet, Francesca Mateo, Miguel Angel Pujana, Elizabeth Poggi, Krysta Chaldekas, Claudine Isaacs, Beth N Peshkin, Oscar Ochoa, Frederic Chedin, Constantine Theoharis, Lu-Zhe Sun, Tyler J Curiel, Richard Elledge, Victor X Jin, Yanfen Hu, Rong Li
Most BRCA1-associated breast tumours are basal-like yet originate from luminal progenitors. BRCA1 is best known for its functions in double-strand break repair and resolution of DNA replication stress. However, it is unclear whether loss of these ubiquitously important functions fully explains the cell lineage-specific tumorigenesis. In vitro studies implicate BRCA1 in elimination of R-loops, DNA-RNA hybrid structures involved in transcription and genetic instability. Here we show that R-loops accumulate preferentially in breast luminal epithelial cells, not in basal epithelial or stromal cells, of BRCA1 mutation carriers...
June 26, 2017: Nature Communications
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