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array comparative hybridization

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https://www.readbyqxmd.com/read/29223885/three-novel-slc2a1-mutations-in-bulgarian-patients-with-different-forms-of-genetic-generalized-epilepsy-reflecting-the-clinical-and-genetic-diversity-of-glut1-deficiency-sydnrome
#1
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
November 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29223476/fecundity-in-an-infertile-man-with-r-15-a-challenge-to-the-current-paradigm
#2
Hamid Kalantari, Hamideh Karimi, Seyed Navid Almadani, Mostafa Fakhri, Pegah Mokhtari, Hamid Gourabi, Anahita Mohseni Meybodi
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29216335/introgression-of-aegilops-speltoides-segments-in-triticum-aestivum-and-the-effect-of-the-gametocidal-genes
#3
Julie King, Surbhi Grewal, Cai-Yun Yang, Stella Hubbart Edwards, Duncan Scholefield, Stephen Ashling, John A Harper, Alexandra M Allen, Keith J Edwards, Amanda J Burridge, Ian P King
Background and Aims: Bread wheat (Triticum aestivum) has been through a severe genetic bottleneck as a result of its evolution and domestication. It is therefore essential that new sources of genetic variation are generated and utilized. This study aimed to generate genome-wide introgressed segments from Aegilops speltoides. Introgressions generated from this research will be made available for phenotypic analysis. Methods: Aegilops speltoides was crossed as the male parent to T...
December 5, 2017: Annals of Botany
https://www.readbyqxmd.com/read/29214040/the-smallest-de-novo-20q11-2-microdeletion-causing-intellectual-disability-and-dysmorphic-features
#4
Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima
The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#5
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29210586/surface-guided-cspbbr3-perovskite-nanowires-on-flat-and-faceted-sapphire-with-size-dependent-photoluminescence-and-fast-photoconductive-response
#6
Eitan Oksenberg, Ella Sanders, Ronit Popovitz-Biro, Lothar Houben, Ernesto Joselevich
All-inorganic lead halide perovskite nanowires have been the focus of increasing interest since they exhibit improved stability compared to their hybrid organic-inorganic counterparts, while retaining their interesting optical and optoelectronic properties. Arrays of surface-guided nanowires with controlled orientations and morphology are promising as building blocks for various applications and for systematic research. We report the horizontal and aligned growth of CsPbBr3 nanowires with a uniform crystallographic orientation on flat and faceted sapphire surfaces to form arrays with 6-fold and 2-fold symmetries, respectively, along specific directions of the sapphire substrate...
December 6, 2017: Nano Letters
https://www.readbyqxmd.com/read/29205775/donor-derived-metastatic-urothelial-cancer-after-kidney-transplantation-associated-with-a-potentially-oncogenic-bk-polyomavirus
#7
David C Müller, Maarit Rämö, Klaudia Naegele, Sebastian Ribi, Christian Wetterauer, Valeria Perrina, Luca Quagliata, Tatjana Vlajnic, Christian Ruiz, Beate Balitzki, Rainer Grobholz, Rainer Gosert, Elvis T Ajuh, Hans H Hirsch, Lukas Bubendorf, Cyrill A Rentsch
BK polyomavirus has been linked to urothelial carcinoma in immunosuppressed patients. Here, we performed comprehensive genomic analysis of a BK polyomavirus -associated, metachronous, multifocal and metastatic micropapillary urothelial cancer in a kidney transplant recipient. Dissecting cancer heterogeneity by sorting technologies prior to array-comparative genomic hybridization followed by short tandem repeat analysis revealed that the metastatic urothelial cancer was of donor-origin (4 year-old male). The top 50 cancer-associated genes displayed no key driver mutations as assessed by next generation sequencing...
December 4, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29201829/patient-with-delayed-development-resulting-from-de-novo-duplication-of-7q36-1-q36-3-and-deletion-of-9p24-3
#8
Asayeon Choi, Ja-Young Oh, Myungshin Kim, Woori Jang, Dae-Hyun Jang
Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9...
October 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29196641/simultaneous-realization-of-high-sensing-sensitivity-and-tunability-in-plasmonic-nanostructures-arrays
#9
Yuan-Fong Chou Chau, Chan-Kuang Wang, Linfang Shen, Chee Ming Lim, Hai-Pang Chiang, Chung-Ting Chou Chao, Hung Ji Huang, Chun-Ting Lin, N T R N Kumara, Nyuk Yoong Voo
A plasmonic nanostructure (PNS) which integrates metallic and dielectric media within a single structure has been shown to exhibit specific plasmonic properties which are considered useful in refractive index (RI) sensor applications. In this paper, the simultaneous realization of sensitivity and tunability of the optical properties of PNSs consisting of alternative Ag and dielectric of nanosphere/nanorod array have been proposed and compared by using three-dimensional finite element method. The proposed system can support plasmonic hybrid modes and the localized surface plasmonic resonances and cavity plasmonic resonances within the individual PNS can be excited by the incident light...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29194985/a-multiplex-reverse-transcription-pcr-and-automated-electronic-microarray-assay-for-detection-and-differentiation-of-seven-viruses-affecting-swine
#10
A Erickson, M Fisher, T Furukawa-Stoffer, A Ambagala, D Hodko, J Pasick, D P King, C Nfon, R Ortega Polo, O Lung
Microarray technology can be useful for pathogen detection as it allows simultaneous interrogation of the presence or absence of a large number of genetic signatures. However, most microarray assays are labour-intensive and time-consuming to perform. This study describes the development and initial evaluation of a multiplex reverse transcription (RT)-PCR and novel accompanying automated electronic microarray assay for simultaneous detection and differentiation of seven important viruses that affect swine (foot-and-mouth disease virus [FMDV], swine vesicular disease virus [SVDV], vesicular exanthema of swine virus [VESV], African swine fever virus [ASFV], classical swine fever virus [CSFV], porcine respiratory and reproductive syndrome virus [PRRSV] and porcine circovirus type 2 [PCV2])...
November 30, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29194093/cdkn2a-b-deletion-and-double-hit-mutations-of-the-mapk-pathway-underlie-the-aggressive-behavior-of-langerhans-cell-tumors
#11
Luc Xerri, José Adélaïde, Cornel Popovici, Séverine Garnier, Arnaud Guille, Lenaïg Mescam-Mancini, Camille Laurent, Pierre Brousset, Carole Coze, Gérard Michel, Max Chaffanet, Reda Bouabdallah, Diane Coso, François Bertucci, Daniel Birnbaum
Langerhans cell histiocytosis (LCH) has a mostly favorable outcome, whereas Langerhans cell sarcoma (LCS) is an aggressive tumor. It is still unclear whether any specific molecular alterations could underlie the aggressive behavior of Langerhans cell proliferations. We used targeted next-generation sequencing and array-comparative genomic hybridization to profile 22 LCH samples from different patients together with 3 LCS samples corresponding to different relapses from the same patient. The third LCS relapse was a composite tumor including both B-cell chronic lymphocytic leukemia and LCS components...
November 29, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29191449/extent-of-chromosomal-mosaicism-influences-the-clinical-outcome-of-in%C3%A2-vitro-fertilization-treatments
#12
Francesca Spinella, Francesco Fiorentino, Anil Biricik, Sara Bono, Alessandra Ruberti, Ettore Cotroneo, Marina Baldi, Elisabetta Cursio, Maria Giulia Minasi, Ermanno Greco
OBJECTIVE: To assess whether the extent of chromosomal mosaicism can influence the success rate of IVF treatments. DESIGN: Prospective study. SETTING: Private genetic and assisted reproduction centers. PATIENT(S): The transfer of mosaic embryos was offered to 77 women for which IVF resulted in no euploid embryos available for transfer. INTERVENTION(S): All embryos were cultured to blastocyst stage; trophectoderm biopsy was performed on day 5/6 of development...
November 28, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29188614/-clinical-and-genetic-analysis-of-a-boy-with-9q34-3-microdeletion-syndrome
#13
Dong Wu, Tao Li, Hongdan Wang, Weili Shi, Qiaofang Hou, Hui Zhang, Tao Wang, Yanli Yang, Shixiu Liao
OBJECTIVE: To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations. METHODS: The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH). RESULTS: No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29170997/differential-expression-of-ion-channels-in-adult-and-neonatal-rat-ventral-respiratory-column
#14
Celia González-Castillo, Elizabeth Muñoz-Ortiz, Carolina Guzmán-Brambila, Argelia E Rojas-Mayorquín, Luis Beltran-Parrazal, Daniel Ortuño-Sahagún, Consuelo Morgado-Valle
In mammals, the neural control of breathing is attributed to circuits distributed along the ventral respiratory column (VRC) in the ventrolateral medulla. The VRC contains the kernel for generation of the inspiratory phase of respiratory rhythm and nuclei involved in central chemoreception. During development, the respiratory rhythm, as well as central chemosensitivity, adjusts to meet the changing physiological requirements associated with increased body weight and size. Gene expression in VRC ontogeny is well characterized...
November 23, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29170104/unraveling-unusual-x-chromosome-patterns-during-fragile-x-syndrome-genetic-testing
#15
Gabriella Esposito, Maria Roberta Tremolaterra, Maria Savarese, Michele Spiniello, Maria Pia Patrizio, Barbara Lombardo, Lucio Pastore, Francesco Salvatore, Antonella Carsana
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), depends on dysfunctional expression of the FMR1 gene on Xq27.3. In most cases, FXS is caused by a >200 CGG repeats in FMR1 5'-untranslated region (UTR) and by promoter hypermethylation that results in gene silencing. Males and females with unmethylated premutated alleles (repeats between 55 and 200) are at risk for FXTAS and POF/POI...
November 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29165356/fast-detection-of-a-brca2-large-genomic-duplication-by-next-generation-sequencing-as-a-single-procedure-a-case-report
#16
Marcella Nunziato, Flavio Starnone, Barbara Lombardo, Matilde Pensabene, Caterina Condello, Francesco Verdesca, Chiara Carlomagno, Sabino De Placido, Lucio Pastore, Francesco Salvatore, Valeria D'Argenio
The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method...
November 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29162626/identification-of-isthmin-1-as-a-novel-clefting-and-craniofacial-patterning-gene-in-humans
#17
Lisa A Lansdon, Benjamin W Darbro, Aline L Petrin, Alissa M Hulstrand, Jennifer M Standley, Rachel B Brouillette, Abby Long, M Adela Mansilla, Robert A Cornell, Jeffery C Murray, Douglas W Houston, J Robert Manak
Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 non-syndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case which removes putative 3' regulatory information...
November 21, 2017: Genetics
https://www.readbyqxmd.com/read/29156798/arhi-is-a-novel-epigenetic-silenced-tumor-suppressor-in-sporadic-pheochromocytoma
#18
Dong Wang, Li Song, Liang Wang, Lianmei Zhao, Bai Xiang, Ying Li, Baoen Shan, Jing Liu
Pheochromocytoma (PCC) is related to germline mutations in 12 susceptibility genes. Although comparative genomic hybridization array has revealed some putative tumor suppressor genes on the short arm of chromosome 1 that are likely to be involved in PCC tumorigenesis, the molecules involved, except for those encoded by known susceptibility genes, have not been found in the generation of sporadic tumors. In the present work, we first identified that the unmethylated allele of Aplasia Ras homolog member I (ARHI) was deleted in most PCC tumors which retained a hypermethylated copy, while its mRNA level was significantly correlated with the unmethylated copy...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155794/an-array-based-comparative-genomic-hybridization-platform-for-efficient-detection-of-copy-number-variations-in-fast-neutron-induced-medicago-truncatula-mutants
#19
Yuhui Chen, Xianfu Wang, Shunfei Lu, Hongcheng Wang, Shibo Li, Rujin Chen
Mutants are invaluable genetic resources for gene function studies. To generate mutant collections, three types of mutagens can be utilized, including biological such as T-DNA or transposon, chemical such as ethyl methanesulfonate (EMS), or physical such as ionization radiation. The type of mutation observed varies depending on the mutagen used. For ionization radiation induced mutants, mutations include deletion, duplication, or rearrangement. While T-DNA or transposon-based mutagenesis is limited to species that are susceptible to transformation, chemical or physical mutagenesis can be applied to a broad range of species...
November 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29151691/parallel-mrna-proteomics-and-mirna-expression-analysis-in-cell-line-models-of-the-intestine
#20
Finbarr O'Sullivan, Joanne Keenan, Sinead Aherne, Fiona O'Neill, Colin Clarke, Michael Henry, Paula Meleady, Laura Breen, Niall Barron, Martin Clynes, Karina Horgan, Padraig Doolan, Richard Murphy
AIM: To identify miRNA-regulated proteins differentially expressed between Caco2 and HT-29: two principal cell line models of the intestine. METHODS: Exponentially growing Caco-2 and HT-29 cells were harvested and prepared for mRNA, miRNA and proteomic profiling. mRNA microarray profiling analysis was carried out using the Affymetrix GeneChip Human Gene 1.0 ST array. miRNA microarray profiling analysis was carried out using the Affymetrix Genechip miRNA 3.0 array...
November 7, 2017: World Journal of Gastroenterology: WJG
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