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Добірка наукової літератури з теми "Hearing Loss,illumina,Agilent"
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Статті в журналах з теми "Hearing Loss,illumina,Agilent"
Liu, Xiao-Wen, Su-Yang Wang, Zhan-Kui Xing, Yi-Ming Zhu, Wen-Juan Ding, Lei Duan, Xiao Cui, Bai-Cheng Xu, Shu-Juan Li, and Yu-Fen Guo. "Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2." Journal of International Medical Research 48, no. 11 (November 2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.
Повний текст джерелаGunnarsson, Rebeqa, Johan Staaf, Mattias Jansson, Anne Marie Ottesen, Hanna Göransson, Ulrika Liljedahl, Ulrik Ralfkiaer, et al. "Screening for Copy Number Alterations and Loss of Heterozygosity in Chronic Lymphocytic Leukemia - A Comparative Study of Four Differently Designed, High Resolution Microarray Platforms." Blood 110, no. 11 (November 16, 2007): 2084. http://dx.doi.org/10.1182/blood.v110.11.2084.2084.
Повний текст джерелаHosono, Katsuhiro, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, and Yoshihiro Hotta. "NovelGUCY2DGene Mutations in Japanese Male Twins with Leber Congenital Amaurosis." Journal of Ophthalmology 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/693468.
Повний текст джерелаHagleitner, Melanie M., Marieke J. H. Coenen, Hans Gelderblom, Peter Hoogerbrugge, Henk-jan Guchelaar, and Dunja Maroeslea W. M. Te Loo. "Association of the genetic variants in the nucleotide excision repair genes XPA and XPC with cisplatin-induced hearing loss in patients with osteosarcoma." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): 10077. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10077.
Повний текст джерелаRiza, Anca-Lelia, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, et al. "Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene." Genes 14, no. 1 (December 26, 2022): 69. http://dx.doi.org/10.3390/genes14010069.
Повний текст джерелаArmstrong, Andrew J., Jing Li, Joshua Beaver, Rhonda Lynn Bitting, and Simon Gregory. "Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy." Journal of Clinical Oncology 32, no. 4_suppl (February 1, 2014): 65. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.65.
Повний текст джерелаO’Halloran, Katrina, Moiz Bootwalla, Daria Merkurjev, Kristiyana Kaneva, Alex Ryutov, Jennifer Cotter, Jianling Ji, Dejerianne Ostrow, Jaclyn A. Biegel, and Xiaowu Gai. "RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES." Neuro-Oncology 22, Supplement_3 (December 1, 2020): iii454. http://dx.doi.org/10.1093/neuonc/noaa222.767.
Повний текст джерелаLi, Qian, Yuxiao Zou, and Sentai Liao. "Mulberry Leaf Polyphenols and Fiber Induce Synergistic Antiobesity and Display a Modulation Effect on Gut Microbiota and Metabolites." Current Developments in Nutrition 4, Supplement_2 (May 29, 2020): 1654. http://dx.doi.org/10.1093/cdn/nzaa063_052.
Повний текст джерелаToomey, Sinead, Aoife Carr, Jillian Rebecca Gunther, Joanna Fay, Anthony O'Grady, David Weksberg, Scott W. Piraino, et al. "Clonal evolution in locally advanced rectal cancers in response to neoadjuvant chemoradiotherapy." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): 3616. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3616.
Повний текст джерелаTeule, Alex, Francisco Quiles, Rafael Valdes-Mas, Miguel Angel Pujana, Monica Salinas, Lidia Feliubadalo, Gabriel Capella, et al. "Searching for new genes responsible for unexplained hereditary breast and ovarian cancer patients." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): e12516-e12516. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e12516.
Повний текст джерелаДисертації з теми "Hearing Loss,illumina,Agilent"
Licastro, Danilo. "Positive selection of hearing loss candidate genes,based on multiple microarray platforms experiments and data mining." Doctoral thesis, Università degli studi di Trieste, 2008. http://hdl.handle.net/10077/2645.
Повний текст джерелаSecondo le stime del World Health Organization, le perdite uditive colpiscono circa 278 milioni di persone in tutto il mondo. Approssimativamente 1 bambino ogni 100, nasce con problemi d’udito. Nonostante l’identificazione negli ultimi 10 anni di più di 100 loci genetici associati a fenotipi di perdita uditiva, non tutti i corrispettivi geni causativi sono stati identificati. Normalmente utilizzando un approccio sperimentale di linkage tradizionale non è sempre possibile identificare un intervallo genomico sufficientemente corto da essere analizzato per la ricerca di mutazioni. Il lavoro presentato in questa tesi ha lo scopo di selezionare un set limitato di geni potenzialmente coinvolti nelle perdite uditive non sindromiche, utilizzando la combinazione di un approccio biologico e bioinformatico. Il punto di partenza dell’analisi è stato il gene GJB2. Il gene GJB2 codifica la Connessina 26, proteina coinvolta nella formazione delle gap junction tra le cellule, ma anche implicata in più del 50% dei casi di perdite uditive non sindromiche. Per questa ragione è stato suggerito un ruolo chiave nella biologia dell’orecchio, che va oltre la sua funzione di proteina canale. In questa tesi è stato esaminato il profilo d’espressione genica di cellule HeLa transfettate con la forma naturale e con delle forme mutate della Connessina26. Le analisi dei dati hanno identificato numerosi geni differenzialmente espressi e si è quindi deciso di passare ad un approccio informatico per ridurne il numero. Questa analisi ha permesso di identificare 19 geni in 11 loci privi di geni causativi selezionandoli in base alla loro espressione rispetto librerie di cDNA prodotte da orecchio. Sono stati quindi identificati i geni omologhi in topo per 5 dei 19 geni, con lo scopo di verificare la loro rilevanza con la perdita uditiva. Per tutti questi 5 geni è stata confermata l’espressione nell’organo di corti in topo e con Real-time RT-PCR nelle linee cellulari transfettate impiegate negli esperimenti di microarray. Il progetto proseguirà ora con lo screening di mutazioni nei geni candidati in famiglie di pazienti selezionate.
According to WHO estimates hearing impairment affects 278 million people worldwide. Approximately 1/1000 children are born with a significant hearing impairment. To date approximately 100 genetic loci involved in deafness have been described. Despite the fact that such a large number of genetic locations associated with deafness phenotypes are known, not all the genes involved have been identified yet. Using a traditional linkage approach, however, it is not always possible to map a locus to intervals short enough to be amenable for costly mutation analysis. So far no more than 40 deafness genes have been identified and these encode very heterogeneous proteins. The work presented in this thesis aims to identify a limited set of candidate genes with high potential to be involved in Non-Syndromic Hearing Loss using a combination of biological and bioinformatics approaches. The starting point of the analysis was the GJB2 gene. The GJB2 gene encodes for the gap junction protein Connexin26 and is responsible for more than half of the non-syndromic hearing loss cases. For this reason it has been proposed that this protein might play a wider role in the biology of the ear, beyond its mere channel function. I therefore performed whole genome expression profiles of HeLa cells transfected with the wild type form of the GJB2 gene and compared them to that of cells transfected with mutant forms of this gene to shed light on its function. Initially this experiment yielded a bewildering number of differentially expressed genes (4,984). Thus I devised an in silico strategy to narrow down this number, focusing on genes which were positionally linked to specific non-syndromic hereditary hearing loss conditions, as well as found within human ear cDNA libraries, thus potentially causative of the disease. This further analysis yielded 19 genes within 11 loci. In order to assess their relevance to hearing loss, the mouse homologs of these genes were identified for 5 of them and indeed they were all found to be expressed in the mouse organ of corti. These five genes were also validated by Real-time RT-PCR in the human cell line used for the microarray experiments.
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