keyword
MENU ▼
Read by QxMD icon Read
search

Mutation

keyword
https://www.readbyqxmd.com/read/28738528/molecular-basis-for-oxidative-stress-induced-by-simulated-microgravity-in-nematode-caenorhabditis-elegans
#1
Li Zhao, Qi Rui, Dayong Wang
Caenorhabditis elegans is an important in vivo assay system for toxicological studies. Herein, we investigated the role of oxidative stress and the underlying molecular mechanism for induced adverse effects of simulated microgravity. In nematodes, simulated microgravity treatment induced a significant induction of oxidative stress. Genes (mev-1, gas-1, and isp-1) encoding a molecular machinery for the control of oxidative stress were found to be dysregulated in simulated microgravity treated nematodes. Meanwhile, genes (sod-2, sod-3, sod-4, sod-5, aak-2, skn-1, and gst-4) encoding certain antioxidant defense systems were increased in simulated microgravity treated nematodes...
July 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28738474/-hiv-1-drug-resistance-transmission-threshold-survey-in-dehong-prefecture-of-yunnan-province-2015
#2
M Chen, J B Wang, H Xing, Y L Ma, J Yang, H C Chen, S T Yao, H B Luo, X Duan, Y K Wang, S Duan, M H Jia
Objective: To study the HIV-1 drug resistance transmission level in HIV infected persons receiving no antiviral therapy in Dehong prefecture of Yunnan province in 2015. Methods: A total of 72 plasma samples were collected from recently reported HIV-infected persons aged 16-25 years in Dehong from January to July 2015 for drug resistance gene detection. Results: Forty eight samples were successfully sequenced and analyzed. Among them, 31.2% (15/48) were from Chinese, and 68.8% (33/48) were from Burmese. Based on pol sequences, HIV genotypes included URF (52...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28738416/conditionally-immortal-slc4a11-mouse-corneal-endothelial-cell-line-recapitulates-disrupted-glutaminolysis-seen-in-slc4a11-mouse-model
#3
Wenlin Zhang, Diego G Ogando, Edward T Kim, Moon-Jung Choi, Hongde Li, Jason M Tenessen, Joseph A Bonanno
Purpose: To establish conditionally immortal mouse corneal endothelial cell lines with genetically matched Slc4a11+/+ and Slc4a11-/- mice as a model for investigating pathology and therapies for SLC4A11 associated congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy. Methods: We intercrossed H-2Kb-tsA58 mice (Immortomouse) expressing an IFN-γ dependent and temperature-sensitive mutant of the SV40 large T antigen (tsTAg) with Slc4a11+/+ and Slc4a11-/- C57BL/6 mice...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28738411/polygenic-risk-for-hypertriglyceridemia-can-mimic-a-major-monogenic-mutation
#4
Priska Stahel, Changting Xiao, Robert A Hegele, Gary F Lewis
No abstract text is available yet for this article.
July 25, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28738334/time-course-of-radiological-imaging-and-variable-interindividual-symptoms-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-associated-with-p-arg487his-mutation-in-the-vcp%C3%A2-gene
#5
Makito Hirano, Yuko Yamagishi, Satoshi Yanagimoto, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
To our knowledge, this is the first study to report the time course of radiological imaging of 3 patients from 2 families with VCP-related amyotrophic lateral sclerosis (ALS) and dementia. Both families shared the same p.Arg487His mutation in the VCP gene encoding valosin-containing protein. The first patient started to have a typical form of ALS, followed by dementia 7 years later. The second patient, a brother of the first one, had frontotemporal dementia and parkinsonism. The third patient had simultaneous ALS and dementia...
July 24, 2017: European Neurology
https://www.readbyqxmd.com/read/28738329/distinct-involvement-of-the-sonic-hedgehog-signaling-pathway-in-gastric-adenocarcinoma-of-fundic-gland-type-and-conventional-gastric-adenocarcinoma
#6
Yuzuru Tajima, Takashi Murakami, Tsuyoshi Saito, Takafumi Hiromoto, Yoichi Akazawa, Noriko Sasahara, Hiroyuki Mitomi, Takashi Yao, Sumio Watanabe
BACKGROUND/AIMS: Gastric adenocarcinoma of fundic gland type (GAFG), which is a rare variant of gastric cancer, is reportedly associated with both Wnt/β-catenin signaling activation and guanine nucleotide binding protein, alpha stimulating complex (GNAS) mutations. This study aimed to elucidate potential roles of the Sonic hedgehog (Shh) signaling pathway in GAFG. METHODS: We performed immunostaining for β-catenin and Shh signal-associated proteins, including Patched (Ptch), Smoothened (Smo), and Glioma-associated oncogene-1 (Gli1), and the direct sequencing of GNAS/BRAF/KRAS in 27 GAFGs, and compared them with 30 conventional gastric adenocarcinomas (CGAs)...
July 22, 2017: Digestion
https://www.readbyqxmd.com/read/28738256/p53-and-mitf-bcl-2-identified-as-key-pathways-in-the-acquired-resistance-of-nras-mutant-melanoma-to-mek-inhibition
#7
Ahmad Najem, Mohammad Krayem, François Salès, Nader Hussein, Bassam Badran, Caroline Robert, Ahmad Awada, Fabrice Journe, Ghanem E Ghanem
Activating mutations in Neuroblastoma RAS viral oncogene homolog (NRAS) are found in 15-30% of melanomas and are associated with a poor prognosis. Although MAP kinase kinase (MEK) inhibitors used as single agents showed a limited clinical benefit in patients with NRAS-mutant melanoma due to their rather cytostatic effect and high toxicity, their combination with other inhibitors of pathways known to cooperate with MEK inhibition may maximise their antitumour activity. Similarly, in a context where p53 is largely inactivated in melanoma, hyperexpression of Microphthalmia associated transcription factor (MITF) and its downstream anti-apoptotic targets may be the cause of the restraint cytotoxic effects of MEK inhibitors...
July 21, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28738244/dna-binding-and-unwinding-by-hel308-helicase-requires-dual-functions-of-a-winged-helix-domain
#8
Sarah J Northall, Ryan Buckley, Nathan Jones, J Carlos Penedo, Panos Soultanas, Edward L Bolt
Hel308 helicases promote genome stability linked to DNA replication in archaea, and have homologues in metazoans. In the crystal structure of archaeal Hel308 bound to a tailed DNA duplex, core helicase domains encircle single-stranded DNA (ssDNA) in a "ratchet" for directional translocation. A winged helix domain (WHD) is also present, but its function is mysterious. We investigated the WHD in full-length Hel308, identifying that mutations in a solvent exposed α-helix resulted in reduced DNA binding and unwinding activities...
July 16, 2017: DNA Repair
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#9
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738064/species-a-rotavirus-nsp3-acquires-its-translation-inhibitory-function-prior-to-stable-dimer-formation
#10
Hugo I Contreras-Treviño, Edgar Reyna-Rosas, Renato León-Rodríguez, Blanca H Ruiz-Ordaz, Tzvetanka D Dinkova, Ana M Cevallos, Luis Padilla-Noriega
Species A rotavirus non-structural protein 3 (NSP3) is a translational regulator that inhibits or, under some conditions, enhances host cell translation. NSP3 binds to the translation initiation factor eIF4G1 and evicts poly-(A) binding protein (PABP) from eIF4G1, thus inhibiting translation of polyadenylated mRNAs, presumably by disrupting the effect of PABP bound to their 3'-ends. NSP3 has a long coiled-coil region involved in dimerization that includes a chaperone Hsp90-binding domain (HS90BD). We aimed to study the role in NSP3 dimerization of a segment of the coiled-coil region adjoining the HS90BD...
2017: PloS One
https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#11
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28738051/braf-mek-%C3%A2-inhibitor-therapy-consensus-statement-from-the-faculty-of-the-melanoma-nursing-initiative-on-managing-adverse-events-and-potential-drug-interactions
#12
Maria Czupryn, Jennifer Cisneros
BACKGROUND: BRAF/MEK inhibitor therapy improves outcomes in BRAF V600E- and V600K-mutated unresectable or metastatic melanoma. However, these regimens are associated with adverse events (AEs) that may lead to unnecessary drug modifications and discontinuations or potentially serious sequelae. In addition, drug-drug interactions (DDIs) may result in AEs or altered therapeutic efficacy.
. OBJECTIVES: This article presents consensus statements to guide nurses in the prevention, recognition, and management of AEs and potential DDIs associated with BRAF/MEK inhibitor therapy...
August 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28738022/werner-syndrome-a-model-for-sarcopenia-due-to-accelerated-aging
#13
Masaya Yamaga, Minoru Takemoto, Mayumi Shoji, Kenichi Sakamoto, Masashi Yamamoto, Takahiro Ishikawa, Masaya Koshizaka, Yoshiro Maezawa, Kazuki Kobayashi, Koutaro Yokote
Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely describe the body composition in WS. Nine Japanese patients with WS (four males and five females; mean age 48±8.8 years) were recruited...
July 19, 2017: Aging
https://www.readbyqxmd.com/read/28738018/nurture-trumps-nature
#14
Ezana Demissie, Shiv Pillai
Mutation-associated infections in one individual are prevented in relatives with the same mutation by a compensatory adaptive immune response.
April 7, 2017: Science Immunology
https://www.readbyqxmd.com/read/28737979/hect-domain-and-rcc1-like-domain-containing-protein-5-herc-5-gene-polymorphisms-in-hiv-1-infected-individuals-a-study-from-india
#15
Nawaj Shaikh, Vandana Saxena, Sudhanshu Pandey, Ajit Patil, Madhuri Thakar
HECT domain and RCC1-like domain-containing protein 5 (HERC-5) is one of the novel host restriction factors that is known to inhibit HIV release in vitro. Polymorphisms in other host restriction factors have been associated with HIV infection and disease progression. However, no report is available on the HERC-5 polymorphism in HIV-infected individuals. We studied the HERC-5 gene polymorphism in HIV-infected individuals and explored whether it is associated with different disease outcomes. Genomic DNA was isolated from 41 HIV-1 progressors, 39 long-term nonprogressors, and 74 HIV seronegative healthy donors for amplification of HERC5 Exon-18 and other regulatory regions followed by sequencing...
July 24, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28737946/structure-guided-optimization-of-hiv-integrase-strand-transfer-inhibitors
#16
Xue Zhi Zhao, Steven J Smith, Daniel P Maskell, Mathieu Métifiot, Valerie E Pye, Katherine Fesen, Christophe Marchand, Yves Pommier, Peter Cherepanov, Stephen H Hughes, Terrence R Burke
Integrase mutations can reduce effectiveness of the first-generation FDA-approved integrase strand transfer inhibitors (INSTIs), raltegravir (RAL) and elvitegravir (EVG). The second-generation agent, dolutegravir (DTG) has enjoyed considerable clinical success; however, resistance-causing mutations that diminish the efficacy of DTG have appeared. Our current findings support and extend the substrate envelope concept that broadly effective INSTIs can be designed by filling the envelope defined by the DNA substrates...
July 24, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28737873/two-novel-mutations-in-the-glycine-decarboxylase-gene-in-a-boy-with-classic-nonketotic-hyperglycinemia-case-report
#17
Shu Liu, Zhiqing Wang, Jinqun Liang, Nuan Chen, Haimei OuYang, Weihong Zeng, Liying Chen, Xunjie Xie, Jianhui Jiang
Nonketotic hyperglycinemia is an extremely rare autosomal recessively inherited glycine encephalopathy caused by a deficiency in the mitochondrial glycine cleavage system, which leads to severe clinical symptoms. Nonketotic hyperglycinemia is characterized by complex and diverse phenotypes, such as hypotonia, seizures, cognitive impairment, developmental delays and myoclonic jerks that may lead to apnea and even death. Here we report a 1-year-old boy with myoclonic seizures, hypotonia and coma; he had elevated plasma and cerebrospinal fluid glycine levels, and cerebrospinal fluid/plasma glycine ratio was 0...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737870/analysis-of-acid-labile-subunit-and-its-usefulness-in-pediatrics
#18
REVIEW
Verónica E Zaidman
The acid-labile subunit (ALS) is an 85 kDa glycoprotein that belongs to the leucine-rich repeat superfamily. It mainly circulates in serum bound to a high molecular weight ternary complex. The main and most widely studied function of ALS is to prolong the half-life of the binary complex formed by insulin-like growth factors type 1 and 2 and its transport proteins 3 and 5. ALS serum levels are lower in neonates, reach a peak in late puberty, and then slowly decrease throughout adulthood. ALS deficiency has consequences on growth, hydrocarbon and bone metabolism, and, in some cases, it affects pubertal development...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737806/whole-blood-fe-isotopic-signature-in-a-sub-saharan-african-population
#19
Justin C Cikomola, María R Flórez, Marta Costas-Rodríguez, Yulia Anoshkina, Karl Vandepoele, Philippe B Katchunga, Antoine S Kishabongo, Marijn M Speeckaert, Frank Vanhaecke, Joris R Delanghe
The Fe isotopic composition of an individual's whole blood has recently been shown to be an interesting clinical indicator of Fe status. The present study aimed to evaluate the influence of several endemic characteristics of a representative population of the South Kivu province, an Fe-rich volcanic African region, on the whole blood Fe isotopic composition. Both diabetes mellitus and the ferroportin Q248H mutation are very common in Africa and are strongly associated with impairments in Fe metabolism. Fe isotopic analysis of whole blood samples was carried out using multi-collector inductively coupled plasma-mass spectrometry (after chromatographic isolation of the target element)...
July 24, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28737768/arid1a-mutated-ovarian-cancers-depend-on-hdac6%C3%A2-activity
#20
Benjamin G Bitler, Shuai Wu, Pyoung Hwa Park, Yang Hai, Katherine M Aird, Yemin Wang, Yali Zhai, Andrew V Kossenkov, Ana Vara-Ailor, Frank J Rauscher Iii, Weiping Zou, David W Speicher, David G Huntsman, Jose R Conejo-Garcia, Kathleen R Cho, David W Christianson, Rugang Zhang
ARID1A, encoding a subunit of the SWI/SNF chromatin-remodelling complex, is the most frequently mutated epigenetic regulator across all human cancers. ARID1A and TP53 mutations are typically mutually exclusive. Therapeutic approaches that correlate with this genetic characteristic remain to be explored. Here, we show that HDAC6 activity is essential in ARID1A-mutated ovarian cancers. Inhibition of HDAC6 activity using a clinically applicable small-molecule inhibitor significantly improved the survival of mice bearing ARID1A-mutated tumours...
July 24, 2017: Nature Cell Biology
keyword
keyword
12482
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"