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https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#1
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635966/testing-models-of-refugial-isolation-colonization-and-population-connectivity-in-two-species-of-montane-salamanders
#2
S M Rovito, S D Schoville
Pleistocene glaciations have profoundly affected patterns of genetic diversity within many species. Temperate alpine organisms likely experienced dramatic range shifts, given that much of their habitat was glaciated during this time. While the effects of glaciations are relatively well understood, the spatial locations of refugia and processes that gave rise to current patterns of diversity are less well known. We use a microsatellite data set to test hypotheses of population connectivity and refugial isolation in the web-toed salamanders (Hydromantes) of the Sierra Nevada...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635953/rare-rnf213-variants-in-the-c-terminal-region-encompassing-the-ring-finger-domain-are-associated-with-moyamoya-angiopathy-in-caucasians
#3
Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve
Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635612/consequences-of-lipopolysaccharide-and-n-3-polyunsaturated-fatty-acid-administration-on-aortic-function-of-spontaneously-hypertensive-rats
#4
Barbara Kaprinay, Ruzena Sotnikova, Karel Frimmel, Jakub Krizak, Iveta Bernatova, Jana Navarova, Ludmila Okruhlicova
The aim of the work was to study the delayed effect of lipopolysaccharide (LPS) administration on endothelial function of the aorta of rats with genetic hypertension. Further, the possibility to ameliorate LPS-induced changes by n-3 polyunsaturated fatty acids (n-3 PUFA) was tested. Rats received a bolus of 1 mg/kg LPS i.p.; n-3 PUFA were administered in the dose of 30 mg/kg daily for 10 days p.o.. Ten days after receiving of LPS, the body weight gain of rats was statistically lower compared to control rats (p < 0...
July 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28635412/gamete-donors-reasons-for-and-expectations-and-experiences-of-registration-with-a-voluntary-donor-linking-register
#5
Eric Blyth, Marilyn Crawshaw, Lucy Frith, Olga van den Akker
This paper reports on a study of the views and experiences of 21 sperm donors and five egg donors registered with UK DonorLink (UKDL), a voluntary DNA-based contact register established to facilitate contact between adults who wish to identify and locate others to whom they are genetically related following donor conception. Specifically, the paper examines donors' reasons for searching for, or making information about themselves available to donor-conceived offspring. Their expectations of registration with UKDL, experiences of being registered and finally, the experiences of those who had contacted donor-conceived offspring and other genetic relatives are investigated...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28635323/preserving-employee-privacy-in-wellness
#6
Paul E Terry
The proposed "Preserving Employee Wellness Programs Act" states that the collection of information about the manifested disease or disorder of a family member shall not be considered an unlawful acquisition of genetic information. The bill recognizes employee privacy protections that are already in place and includes specific language relating to nondiscrimination based on illness. Why did legislation expressly intending to "preserve wellness programs" generate such antipathy about wellness among journalists? This article argues that those who are committed to preserving employee wellness must be equally committed to preserving employee privacy...
July 2017: American Journal of Health Promotion: AJHP
https://www.readbyqxmd.com/read/28634715/regulatory-element-based-prediction-identifies-new-susceptibility-regulatory-variants-for-osteoporosis
#7
Shi Yao, Yan Guo, Shan-Shan Dong, Ruo-Han Hao, Xiao-Feng Chen, Yi-Xiao Chen, Jia-Bin Chen, Qing Tian, Hong-Wen Deng, Tie-Lin Yang
Despite genome-wide association studies (GWASs) have identified many susceptibility genes for osteoporosis, it still leaves a large part of missing heritability to be discovered. Integrating regulatory information and GWASs could offer new insights into the biological link between the susceptibility SNPs and osteoporosis. We generated five machine learning classifiers with osteoporosis-associated variants and regulatory features data. We gained the optimal classifier and predicted genome-wide SNPs to discover susceptibility regulatory variants...
June 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28634614/detection-of-the-circulating-tumor-dnas-in-angioimmunoblastic-t-cell-lymphoma
#8
Mamiko Sakata-Yanagimoto, Rie Nakamoto-Matsubara, Daisuke Komori, Tran B Nguyen, Keiichiro Hattori, Toru Nanmoku, Takayasu Kato, Naoki Kurita, Yasuhisa Yokoyama, Naoshi Obara, Yuichi Hasegawa, Atsushi Shinagawa, Shigeru Chiba
Recent genetic studies identified that the disease-specific G17V RHOA mutation, together with mutations in TET2, DNMT3A, and IDH2, is a hallmark of angioimmunoblastic T cell lymphomas (AITL). The diagnostic value of these mutations is now being investigated. Circulating tumor DNAs (ctDNAs) may offer a non-invasive testing for diagnosis and disease monitoring of cancers. To investigate whether these mutations are useful markers for ctDNAs in AITL and its related lymphomas, we performed targeted sequencing for TET2, RHOA, DNMT3A, and IDH2 in paired tumors and cell-free DNAs from 14 patients at diagnosis...
June 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28634355/longitudinal-study-of-middle-east-respiratory-syndrome-coronavirus-infection-in-dromedary-camel-herds-in-saudi-arabia-2014-2015
#9
Maged Gomaa Hemida, Abdulmohsen Alnaeem, Daniel Kw Chu, Ranawaka Apm Perera, Samuel Ms Chan, Faisal Almathen, Emily Yau, Brian Cy Ng, Richard J Webby, Leo Lm Poon, Malik Peiris
Two herds of dromedary camels were longitudinally sampled with nasal and rectal swabs and serum, between September 2014 and May 2015, and the samples were tested for Middle East Respiratory Syndrome (MERS) coronavirus RNA and antibodies. Evidence of MERS-CoV infection was confirmed in one herd on the basis of detection of virus RNA in nasal swabs from three camels and significant increases in the antibody titers from three others. The three viruses were genetically identical, thus indicating introduction of a single virus into this herd...
June 21, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28634332/predicting-the-potential-risk-area-of-illegal-vaccine-trade-in-china
#10
Yilan Liao, Yanhui Lei, Zhoupeng Ren, Huiyan Chen, Dongyue Li
Since the disclosure of the "Illegal vaccine operation series case in Jinan, Shandong" in March, 2016, this issue has attracted a great deal of attention and has led to public concerns about the safety and efficacy of the vaccines involved in this case. The main purpose of this paper is to scientifically and scrupulously predict the possible geographic distribution of illegal vaccines in China, and provide a foundation to guide future governmental policies and actions. A species distribution model was used because of the advantages of using presence/pseudo-absence or presence-only data, and it performs well with incomplete species distribution data...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634160/high-throughput-characterization-of-cascade-type-i-e-crispr-guide-efficacy-reveals-unexpected-pam-diversity-and-target-sequence-preferences
#11
Becky Xu Hua Fu, Michael Wainberg, Anshul Kundaje, Andrew Z Fire
Interactions between Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) RNAs and CRISPR-associated (Cas) proteins form an RNA-guided adaptive immune system in prokaryotes. The adaptive immune system utilizes segments of the genetic material of invasive foreign elements in the CRISPR locus. The loci are transcribed and processed to produce small CRISPR RNAs (crRNAs), with degradation of invading genetic material directed by a combination of complementarity between RNA and DNA and in some cases recognition of adjacent motifs called PAMs (Protospacer Adjacent Motifs)...
June 20, 2017: Genetics
https://www.readbyqxmd.com/read/28634108/disturbances-of-novel-object-exploration-and-recognition-in-a-chronic-ketamine-mouse-model-of-schizophrenia
#12
Maria Jelena Hauser, Dirk Isbrandt, Jochen Roeper
Schizophrenia is a chronic and devastating disease with an overall lifetime risk of 1%. While positive symptoms of schizophrenia such as hallucinations and delusions are reduced by antipsychotic medication based on the inhibition of type 2 dopaminergic receptors (D2R), negative symptoms (e.g. reduced motivation) and cognitive symptoms (e.g. impaired working memory) of schizophrenia are not effectively treated by current medication. This dichotomy might arise in part because of our limited understanding of the pathophysiology of negative and cognitive symptoms in schizophrenia...
June 17, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28634058/apoptotic-gene-expression-profiles-and-dna-damage-levels-in-rat-liver-treated-with-perfluorooctane-sulfonate-and-protective-role-of-curcumin
#13
Dilek Eke, Ayla Çelik, Bertan Yilmaz, Nurcan Aras, Sabriye Kocatürk Sel, Davut Alptekin
Perfluorinated compounds (PFCs) such as PFOS and PFOA, are xenobiotics that can be detected worldwide in the environment and humans. PFOS (C8F17SO3(-)) is a fluorinated organic compound has been used for decades in industrial and commercial products. We investigated the genotoxic and apoptotic impact of PFOS in rat liver using comet assay, micronucleus test and apoptotic gene expression methods for caspase 3, caspase 8 and the protective role of curcumin on the PFOS- induced damage under chronic exposure. In this study, rats were treated either with three different PFOS doses only (0...
June 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28633695/how-should-discordance-between-molecular-and-growth-based-assays-for-rifampicin-resistance-be-investigated
#14
S Hofmann-Thiel, H Hoffmann, D Hillemann, L Rigouts, A Van Deun, K Kranzer
Molecular tests to detect the presence of Mycobacterium tuberculosis and genetic polymorphisms in the rpoB gene conferring resistance to rifampicin (RMP) have become integral parts of tuberculosis diagnostics worldwide. These assays are often performed sequentially or in parallel to phenotypic drug susceptibility testing. Discordances between molecular and phenotypic tests invariably occur. Root causes range from pre-, post- and analytic errors to co-existence of non-tuberculous mycobacteria, silent mutations, mutations outside the 81 base-pair RMP resistance-determining region, non-canonical mutations conferring increased minimal inhibitory concentrations below the critical concentration in some phenotypic drug susceptibility tests, and heteroresistance...
July 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28633683/plasminogen-activator-inhibitor-1-is-regulated-through-dietary-fat-intake-and-heritability-studies-in-twins
#15
Anna Janina Engstler, Turid Frahnow, Michael Kruse, Andreas Friedrich Hermann Pfeiffer, Ina Bergheim
In different pathophysiological conditions plasminogen activator inhibitor-1 (PAI-1) plasma concentrations are elevated. As dietary patterns are considered to influence PAI-1 concentration, we aimed to determine active PAI-1 plasma concentrations and mRNA expression in adipose tissue before and after consumption of a high-fat diet (HFD) and the impact of additive genetic effects herein in humans. For 6 weeks, 46 healthy, non-obese pairs of twins (aged 18-70) received a normal nutritionally balanced diet (ND) followed by an isocaloric HFD for 6 weeks...
June 21, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28633662/orthored-a-rapid-and-accurate-orthology-prediction-tool-with-low-computational-requirement
#16
Kai Battenberg, Ernest K Lee, Joanna C Chiu, Alison M Berry, Daniel Potter
BACKGROUND: Identifying orthologous genes is an initial step required for phylogenetics, and it is also a common strategy employed in functional genetics to find candidates for functionally equivalent genes across multiple species. At the same time, in silico orthology prediction tools often require large computational resources only available on computing clusters. Here we present OrthoReD, an open-source orthology prediction tool with accuracy comparable to published tools that requires only a desktop computer...
June 21, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28633633/utilization-and-farmers-knowledge-on-pigeonpea-diversity-in-benin-west-africa
#17
Mathieu Anatole Tele Ayenan, Agyemang Danquah, Léonard Essehou Ahoton, Kwadwo Ofori
BACKGROUND: Understanding factors driving farmers' uses of crop genetic resources is a key component not only to design appropriate conservation strategies but also to promote sustainable production. However, in Benin, limited information is available on farmers' knowledge related to pigeonpea uses and conservation. This study aimed at i) identifying and investigating the different uses of pigeonpea in relation with socio-cultural factors, namely age, gender, ethnic group and respondents' residence, ii) assessing pigeonpea varieties richness at household level and iii) evaluating the extent and distribution of pigeonpea varieties...
June 20, 2017: Journal of Ethnobiology and Ethnomedicine
https://www.readbyqxmd.com/read/28633403/structured-populations-of-sulfolobus-acidocaldarius-with-susceptibility-to-mobile-genetic-elements
#18
Rika E Anderson, Angela Kouris, Christopher H Seward, Kate M Campbell, Rachel J Whitaker
The impact of a structured environment on genome evolution can be determined through comparative population genomics of species that live in the same habitat. Recent work comparing three genome sequences of Sulfolobus acidocaldarius suggested that highly structured, extreme, hot spring environments do not limit dispersal of this thermoacidophile, in contrast to other co-occurring Sulfolobus species. Instead, a high level of conservation among these three S. acidocaldarius genomes was hypothesized to result from rapid, global-scale dispersal promoted by low susceptibility to viruses that sets S...
June 14, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28633351/data-compression-can-discriminate-broilers-by-selection-line-detect-haplotypes-and-estimate-genetic-potential-for-complex-phenotypes
#19
N J Hudson, R J Hawken, R Okimoto, R L Sapp, A Reverter
Accurately establishing the relationships among individuals lays the foundation for genetic analyses such as genome-wide association studies and identification of selection signatures. Of particular interest to the poultry industry are estimates of genetic merit based on molecular data. These estimates can be commercially exploited in marker-assisted breeding programs to accelerate genetic improvement. Here, we test the utility of a new method we have recently developed to estimate animal relatedness and applied it to genetic parameter estimation in commercial broilers...
June 15, 2017: Poultry Science
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#20
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
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