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https://www.readbyqxmd.com/read/28231674/-a-preliminary-study-on-the-molecular-characteristics-of-d-cycloserine-resistance-of-mycobacterium-tuberculosis
#1
C Li, G L Li, Q Luo, S J Li, R B Wang, Y L Lou, J X Lyu, K L Wan
Objective: To investigate the relationship between D-cycloserine resistance and the gene mutations of alrA, ddlA and cycA of Mycobacterium (M.) tuberculosis, as well as the association between D-cycloserine resistance and spoligotyping genotyping. Methods: A total of 145 M. tuberculosis strains were selected from the strain bank. D-cycloserine resistant phenotypes of the strains were determined by the proportion method and the minimal inhibitory concentration was determined by resazurin microtiter assay. PCR amplification and DNA direct sequencing methods were used for the analysis of gene mutations...
February 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#2
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231293/photoacoustic-imaging-features-of-intraocular-tumors-retinoblastoma-and-uveal-melanoma
#3
Guan Xu, Yafang Xue, Zeynep Gürsel Özkurt, Naziha Slimani, Zizhong Hu, Xueding Wang, Kewen Xia, Teng Ma, Qifa Zhou, Hakan Demirci
The purpose of this study is to examine the capability of photoacoustic (PA) imaging (PAI) in assessing the unique molecular and architectural features in ocular tumors. A real-time PA and ultrasonography (US) parallel imaging system based on a research US platform was developed to examine retinoblastoma in mice in vivo and human retinoblastoma and uveal melanoma ex vivo. PA signals were generated by optical illumination at 720, 750, 800, 850, 900 and 950 nm delivered through a fiber optical bundle. The optical absorption spectra of the tumors were derived from the PA images...
2017: PloS One
https://www.readbyqxmd.com/read/28231269/a-mouse-model-of-paralytic-myelitis-caused-by-enterovirus-d68
#4
Alison M Hixon, Guixia Yu, J Smith Leser, Shigeo Yagi, Penny Clarke, Charles Y Chiu, Kenneth L Tyler
In 2014, the United States experienced an epidemic of acute flaccid myelitis (AFM) cases in children coincident with a nationwide outbreak of enterovirus D68 (EV-D68) respiratory disease. Up to half of the 2014 AFM patients had EV-D68 RNA detected by RT-PCR in their respiratory secretions, although EV-D68 was only detected in cerebrospinal fluid (CSF) from one 2014 AFM patient. Given previously described molecular and epidemiologic associations between EV-D68 and AFM, we sought to develop an animal model by screening seven EV-D68 strains for the ability to induce neurological disease in neonatal mice...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28231083/evaluation-of-the-availability-and-antioxidant-capacity-of-maillard-compounds-present-in-bread-crust-studies-in-caco-2-cells
#5
Silvia Pastoriza de la Cueva, Isabel Seiquer, Marta Mesías, José Ángel Rufián-Henares, Cristina Delgado-Andrade
Bread crust is one of the major contributors to the intake of Maillard reaction products (MRP). MRP improve the organoleptic properties of foods and can provide biological actions such as antioxidant properties. The transport and availability of Amadori compounds (measured as furosine) and hydroxymethylfurfural (HMF)-early and intermediary MRP-from enzymatically digested bread crust (BC) and from its soluble low-molecular weight (LMW) and high-molecular weight (HMW) fractions were investigated in the Caco-2 cell line...
January 11, 2017: Foods (Basel, Switzerland)
https://www.readbyqxmd.com/read/28230630/update-on-the-22q11-2-deletion-syndrome-and-its-relevance-to-schizophrenia
#6
Lily Van, Erik Boot, Anne S Bassett
PURPOSE OF REVIEW: Schizophrenia occurs in ∼25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), the strongest known molecular genetic risk factor for schizophrenia. This review highlights recent literature in 22q11.2DS as it pertains to psychosis and schizophrenia. RECENT FINDINGS: Advances in noninvasive prenatal testing allow for early detection of 22q11.2DS in utero, whereas premature birth has been shown to be a significant risk factor for development of psychotic illness in 22q11...
February 21, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28230370/coarse-grained-prediction-of-peptide-binding-to-g-protein-coupled-receptors
#7
Bartholomé Delort, Pedro Renault, Landry Charlier, Florent Raussin, Jean Martinez, Nicolas Floquet
In this study, we used the Martini Coarse-Grained model with no applied restraints to predict the binding mode of some peptides to G-Protein Coupled Receptors (GPCRs). Both the Neurotensin-1 and the chemokine CXCR4 receptors were used as test cases. Their ligands, NTS8-13 and CVX15 peptides, respectively, were initially positioned in the surrounding water box. Using a protocol based on Replica Exchange Molecular Dynamics (REMD), both opening of the receptors and entry of the peptides into their dedicated pockets were observed on the μs time-scale...
February 23, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28230335/undergraduate-medical-academic-performance-is-improved-by-scientific-training
#8
Lili Zhang, Wei Zhang, Chong Wu, Zhongming Liu, Yunfei Cai, Xingguo Cao, Yushan He, Guoxiang Liu, Hongming Miao
The effect of scientific training on course learning in undergraduates is still controversial. In this study, we investigated the academic performance of undergraduate students with and without scientific training. The results show that scientific training improves students' test scores in general medical courses, such as biochemistry and molecular biology, cell biology, physiology, and even English. We classified scientific training into four levels. We found that literature reading could significantly improve students' test scores in general courses...
February 23, 2017: Biochemistry and Molecular Biology Education
https://www.readbyqxmd.com/read/28230237/parasitism-drives-host-genome-evolution-insights-from-the-pasteuria-ramosa-daphnia-magna-system
#9
Yann Bourgeois, Anne C Roulin, Kristina Müller, Dieter Ebert
Because parasitism is thought to play a major role in shaping host genomes, it has been predicted that genomic regions associated with resistance to parasites should stand out in genome scans, revealing signals of selection above the genomic background. To test whether parasitism is indeed such a major factor in host evolution and to better understand host-parasite interaction at the molecular level, we studied genome-wide polymorphisms in 97 genotypes of the planktonic crustacean Daphnia magna originating from three localities across Europe...
February 23, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#10
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28230016/evaluation-and-identification-of-factors-related-to-kras-and-braf-gene-mutations-in-colorectal-cancer-a-meta-analysis
#11
Li Lin, Guang-Yong Chen, Chun-Wei Xu, Hai-Yan Wang, Yong-Fang Wu, Mei-Yu Fang
OBJECTIVE: The aim of this meta-analysis is to evaluate the distribution pattern of KRAS and BRAF mutations in colorectal cancer. MATERIALS AND METHODS: The database was searched without language restrictions. Meta-analyses were conducted using the STATA software. We calculated the odds ratio (OR) and its 95% confidence interval (95% CI) to estimate the distribution of and correlation between KRAS and BRAF mutations, CpG island methylator phenotype (CIMP), and microsatellite instability (MSI) in left- and right-sided colorectal cancer...
December 2016: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28229507/a-samhd1-mutation-associated-with-aicardi-gouti%C3%A3-res-syndrome-uncouples-the-ability-of-samhd1-to-restrict-hiv-1-from-its-ability-to-downmodulate-type-i-interferon-in-humans
#12
Tommy E White, Alberto Brandariz-Nuñez, Alicia Martinez-Lopez, Caitlin Knowlton, Gina Lenzi, Baek Kim, Dmitri Ivanov, Felipe Diaz-Griffero
Mutations in the human SAMHD1 gene are known to correlate with the development of the Aicardi-Goutières Syndrome (AGS), which is an inflammatory encephalopathy that exhibits neurological dysfunction characterized by increased production of type I interferon (IFN); this evidence has lead to the concept that the SAMHD1 protein negatively regulates the type I IFN response. Additionally, the SAMHD1 protein has been shown to prevent efficient HIV-1 infection of macrophages, dendritic cells and resting CD4+ T cells...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229505/a-variant-in-a-cis-regulatory-element-enhances-claudin-14-expression-and-is-associated-with-pediatric-onset-hypercalciuria-and-kidney-stones
#13
Megan E Ure, Emma Heydari, Wanling Pan, Ajay Ramesh, Sabah Rehman, Catherine Morgan, Maury Pinsk, Robin Erickson, Johannes M Herrmann, Henrik Dimke, Emmanuelle Cordat, Mathieu Lemaire, Michael Walter, R Todd Alexander
The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Recently, renal CLDN14 expression was found to increase in response to increased plasma calcium, thereby inducing calciuria. We hypothesized therefore that some children with hypercalciuria and kidney stones harbor a CLDN14 variant that inappropriately increases gene expression...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229459/differential-serotonergic-modulation-across-the-main-and-accessory-olfactory-bulbs
#14
Zhenbo Huang, Nicolas Thiebaud, Debra Ann Fadool
Mitral cells (MCs) contained in the main (MOB) and accessory (AOB) olfactory bulb have distinct intrinsic membrane properties but a comparison of the extent of neuromodulation across the two systems is not well explored. Herein, we investigated a widely-distributed CNS modulator, serotonin (5-HT), for its ability to modulate the biophysical properties of MCs across the MOB and AOB, using an in vitro, brain slice approach in postnatal 15-30 day mice. In the MOB, 5-HT elicited three types of responses in 93% of 180 cells tested...
February 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#15
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28228936/genetic-basis-of-benzimidazole-resistance-in-teladorsagia-circumcincta-in-ireland
#16
Jason D Keegan, Barbara Good, Theo de Waal, June Fanning, Orla M Keane
Resistance to benzimidazole (BZ) anthelmintics is common in ovine nematodes of economic importance. Single nucleotide polymorphisms (SNP) at three positions in the isotype 1 β- tubulin gene have been associated with BZ resistance and molecular tests for the detection of BZ resistance have been developed. In order to determine if such tests are practicable in Ireland the polymorphisms associated with BZ resistance must be identified. To this end, BZ-resistant nematodes were recovered from four farms in Ireland...
2017: Irish Veterinary Journal
https://www.readbyqxmd.com/read/28228927/computational-approaches-for-revealing-the-structure-of-membrane-transporters-case-study-on-bilitranslocase
#17
REVIEW
Katja Venko, A Roy Choudhury, Marjana Novič
The structural and functional details of transmembrane proteins are vastly underexplored, mostly due to experimental difficulties regarding their solubility and stability. Currently, the majority of transmembrane protein structures are still unknown and this present a huge experimental and computational challenge. Nowadays, thanks to X-ray crystallography or NMR spectroscopy over 3000 structures of membrane proteins have been solved, among them only a few hundred unique ones. Due to the vast biological and pharmaceutical interest in the elucidation of the structure and the functional mechanisms of transmembrane proteins, several computational methods have been developed to overcome the experimental gap...
2017: Computational and Structural Biotechnology Journal
https://www.readbyqxmd.com/read/28228923/rodent-species-distribution-and-hantavirus-seroprevalence-in-residential-and-forested-areas-of-sarawak-malaysia
#18
Nur Elfieyra Syazana Hamdan, Yee Ling Ng, Wei Bin Lee, Cheng Siang Tan, Faisal Ali Anwarali Khan, Yee Ling Chong
Rodents belong to the order Rodentia, which consists of three families in Borneo (i.e., Muridae, Sciuridae and Hystricidae). These include rats, mice, squirrels, and porcupines. They are widespread throughout the world and considered pests that harm humans and livestock. Some rodent species are natural reservoirs of hantaviruses (Family: Bunyaviridae) that can cause zoonotic diseases in humans. Although hantavirus seropositive human sera were reported in Peninsular Malaysia in the early 1980s, information on their infection in rodent species in Malaysia is still lacking...
January 2017: Tropical Life Sciences Research
https://www.readbyqxmd.com/read/28228865/identification-of-beta-cell-dysfunction-at-the-pre-symptomatic-stage-of-diabetes-mellitus-by-novel-analytical-system-liquid-biopsy-measurements-in-femtograms
#19
REVIEW
Kurt Krapfenbauer
BACKGROUND: Diabetes mellitus is produced and progresses as a consequence of complex and gradual processes, in which a variety of alterations of the endocrine pancreas, are involved and which mainly result in beta cell failure. Those molecular alterations can be found in the bloodstream, which suggests that we could quantify specific biomarkers in plasma or serum by very sensitive methods before the onset diabetes mellitus is diagnosed. However, classical methods of protein analysis such as electrophoresis, Western blot, ELISA, and liquid chromatography are generally time-consuming, lab-intensive, and not sensitive enough to detect such alteration in a pre-symptomatic state of the disease...
December 2017: EPMA Journal
https://www.readbyqxmd.com/read/28228768/genome-wide-single-nucleotide-polymorphisms-in-cms-and-restorer-lines-discovered-by-genotyping-using-sequencing-and-association-with-marker-combining-ability-for-12-yield-related-traits-in-oryza-sativa-l-subsp-japonica
#20
Imdad U Zaid, Weijie Tang, Erbao Liu, Sana U Khan, Hui Wang, Edzesi W Mawuli, Delin Hong
Heterosis or hybrid vigor is closely related with general combing ability (GCA) of parents and special combining ability (SCA) of combinations. The evaluation of GCA and SCA facilitate selection of parents and combinations in heterosis breeding. In order to improve combining ability (CA) by molecular marker assist selection, it is necessary to identify marker loci associated with the CA. To identify the single nucleotide polymorphisms (SNP) loci associated with CA in the parental genomes of japonica rice, genome-wide discovered SNP loci were tested for association with the CA of 18 parents for 12 yield-related traits...
2017: Frontiers in Plant Science
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