FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2343415204> ?p ?o ?g. }

• W2343415204 endingPage "29915" @default.
• W2343415204 startingPage "29901" @default.
• W2343415204 abstract "// Jianmin Wang 1,* , Antonios Papanicolau-Sengos 2,* , Sreenivasulu Chintala 3,10,* , Lei Wei 1 , Biao Liu 1 , Qiang Hu 1 , Kiersten Marie Miles 2 , Jeffrey M. Conroy 2 , Sean T. Glenn 4 , Manuela Costantini 5,8,9 , Cristina Magi-Galluzzi 6 , Sabina Signoretti 7 , Toni Choueiri 7 , Michele Gallucci 5 , Steno Sentinelli 5 , Vito M. Fazio 8 , Maria Luana Poeta 9 , Song Liu 1 , Carl Morrison 2 and Roberto Pili 3,10 1 Department of Biostatistics & Bioinformatics, Roswell Park Cancer Institute, Buffalo, NY, USA 2 Department of Pathology and Center for Personalized Medicine, Roswell Park Cancer Institute, Buffalo, NY, USA 3 Genitourinary Program, Roswell Park Cancer Institute, Buffalo, NY, USA 4 Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY, USA 5 Department of Urology, Regina Elena National Cancer Institute of Rome, Rome, Italy 6 Department of Pathology, Cleveland Clinic, Cleveland, OH, USA 7 Department of Pathology and Kidney Cancer Program, Dana Farber, Boston, MA, USA 8 Laboratory of Genetic and Clinical Pathology, University Campus BioMedico of Rome, Rome, Italy 9 Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy 10 Genitourinary Program, Indiana University-Simon Cancer Center, Indianapolis, IN, USA * These authors have contributed equally to this work Correspondence to: Roberto Pili, email: // Keywords : collecting duct carcinoma, CDKN2A, solute carrier family genes Received : December 04, 2015 Accepted : April 16, 2016 Published : April 28, 2016 Abstract The genetic landscape and molecular features of collecting duct carcinoma (CDC) of the kidney remain largely unknown. Herein, we performed whole exome sequencing (WES) and transcriptome sequencing (RNASeq) on 7 CDC samples (CDC1 -7). Among the 7 samples, 4 samples with matched non-tumor tissue were used for copy number analysis by SNP array data. No recurrent somatic SNVs were observed except for MLL , which was found to be mutated (p.V297I and p.F407C) in 2 samples. We identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53 , and ZNF521 . SNP array data identified a CDKN2A homozygous deletion in 3 samples and SNV analysis showed a non-sense mutation of the CDKN2A gene with unknown somatic status. To estimate the recurrent rate of CDKN2A abnormalities, we performed FISH screening of additional samples and confirmed the frequent loss (62.5%) of CDKN2A expression. Since cisplatin based therapy is the common treatment option for CDC, we investigated the expression of solute carrier (SLC) family transporters and found 45% alteration. In addition, SLC7A11 (cystine transporter, xCT), a cisplatin resistance associated gene, was found to be overexpressed in 4 out of 5 (80%) cases of CDC tumors tested, as compared to matched non-tumor tissue. In summary, our study provides a comprehensive genomic analysis of CDC and identifies potential pathways suitable for targeted therapies." @default.
• W2343415204 created "2016-06-24" @default.
• W2343415204 creator A5002809073 @default.
• W2343415204 creator A5003107448 @default.
• W2343415204 creator A5014295844 @default.
• W2343415204 creator A5027499943 @default.
• W2343415204 creator A5031383735 @default.
• W2343415204 creator A5033026902 @default.
• W2343415204 creator A5034579434 @default.
• W2343415204 creator A5034716746 @default.
• W2343415204 creator A5034787932 @default.
• W2343415204 creator A5042183753 @default.
• W2343415204 creator A5046795494 @default.
• W2343415204 creator A5049142712 @default.
• W2343415204 creator A5052504518 @default.
• W2343415204 creator A5053624702 @default.
• W2343415204 creator A5056585446 @default.
• W2343415204 creator A5059394561 @default.
• W2343415204 creator A5065797053 @default.
• W2343415204 creator A5071379993 @default.
• W2343415204 creator A5072996841 @default.
• W2343415204 creator A5088711902 @default.
• W2343415204 date "2016-04-28" @default.
• W2343415204 modified "2023-10-17" @default.
• W2343415204 title "Collecting duct carcinoma of the kidney is associated with<i>CDKN2A</i>deletion and<i>SLC</i>family gene up-regulation" @default.
• W2343415204 cites W1493801922 @default.
• W2343415204 cites W1510363084 @default.
• W2343415204 cites W1545743138 @default.
• W2343415204 cites W1598768164 @default.
• W2343415204 cites W1650797637 @default.
• W2343415204 cites W1868543250 @default.
• W2343415204 cites W1870952560 @default.
• W2343415204 cites W1948749132 @default.
• W2343415204 cites W1980106585 @default.
• W2343415204 cites W1980932672 @default.
• W2343415204 cites W1984068087 @default.
• W2343415204 cites W1985186888 @default.
• W2343415204 cites W1992708996 @default.
• W2343415204 cites W1999918093 @default.
• W2343415204 cites W2000087607 @default.
• W2343415204 cites W2002033007 @default.
• W2343415204 cites W2007418983 @default.
• W2343415204 cites W2011098594 @default.
• W2343415204 cites W2016079491 @default.
• W2343415204 cites W2019655769 @default.
• W2343415204 cites W2024334744 @default.
• W2343415204 cites W2031631324 @default.
• W2343415204 cites W2034530633 @default.
• W2343415204 cites W2036832743 @default.
• W2343415204 cites W2038717115 @default.
• W2343415204 cites W2055586386 @default.
• W2343415204 cites W2058445901 @default.
• W2343415204 cites W2060562819 @default.
• W2343415204 cites W2073577949 @default.
• W2343415204 cites W2079212177 @default.
• W2343415204 cites W2091375729 @default.
• W2343415204 cites W2093253153 @default.
• W2343415204 cites W2094661509 @default.
• W2343415204 cites W2096783707 @default.
• W2343415204 cites W2099598957 @default.
• W2343415204 cites W2103441770 @default.
• W2343415204 cites W2106886066 @default.
• W2343415204 cites W2107318366 @default.
• W2343415204 cites W2107882830 @default.
• W2343415204 cites W2114843025 @default.
• W2343415204 cites W2115494288 @default.
• W2343415204 cites W2115919763 @default.
• W2343415204 cites W2118701162 @default.
• W2343415204 cites W2124470681 @default.
• W2343415204 cites W2127713119 @default.
• W2343415204 cites W2133601305 @default.
• W2343415204 cites W2134526812 @default.
• W2343415204 cites W2138249892 @default.
• W2343415204 cites W2143908316 @default.
• W2343415204 cites W2149441684 @default.
• W2343415204 cites W2152612397 @default.
• W2343415204 cites W2155781648 @default.
• W2343415204 cites W2157817512 @default.
• W2343415204 cites W2161130083 @default.
• W2343415204 cites W2162973874 @default.
• W2343415204 cites W2165129832 @default.
• W2343415204 cites W2167389683 @default.
• W2343415204 cites W2169422968 @default.
• W2343415204 cites W2179438025 @default.
• W2343415204 cites W2191975304 @default.
• W2343415204 cites W2263732114 @default.
• W2343415204 cites W2396026125 @default.
• W2343415204 cites W2402264833 @default.
• W2343415204 doi "https://doi.org/10.18632/oncotarget.9093" @default.
• W2343415204 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5058651" @default.
• W2343415204 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27144525" @default.
• W2343415204 hasPublicationYear "2016" @default.
• W2343415204 type Work @default.
• W2343415204 sameAs 2343415204 @default.
• W2343415204 citedByCount "45" @default.
• W2343415204 countsByYear W23434152042016 @default.
• W2343415204 countsByYear W23434152042017 @default.
• W2343415204 countsByYear W23434152042018 @default.

• next