Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer.
Embo Molecular Medicine
Stentenbach, Maike M; Ermer, Judith A JA; Rudler, Danielle L DL; Perks, Kara L KL; Raven, Samuel A SA; Lee, Richard G RG; McCubbin, Tim T; Marcellin, Esteban E; Siira, Stefan J SJ; Rackham, Oliver O; Filipovska, Aleksandra A
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: ELAC2: 1621G>A; A541T; rs5030739
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: ELAC2: 1621G>A; A541T; rs5030739
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: ELAC2: 1621G>A; Ala541Thr; rs5030739
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20
Variant appearance in text: ELAC2: 1621G>A; Ala541Thr; rs5030739
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: ELAC2: 1621G>A; Ala541Thr
Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
Publication Date: 2018-07-19
Variant appearance in text: ELAC2: 1621G>A; Ala541Thr; rs5030739
A comprehensive study of circulating tumour cells at the moment of prostate cancer diagnosis: biological and clinical implications of EGFR, AR and SNPs.
Oncotarget
Puche-Sanz, Ignacio I; Alvarez-Cubero, María J MJ; Pascual-Geler, Manrique M; Rodríguez-Martínez, Alba A; Delgado-Rodríguez, Miguel M; García-Puche, José L JL; Expósito, José J; Robles-Fernández, Inmaculada I; Entrala-Bernal, Carmen C; Lorente, José A JA; Cózar-Olmo, José M JM; Serrano, María J MJ
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: ELAC2: A541T; rs5030739
The crystal structure of Trz1, the long form RNase Z from yeast.
Nucleic Acids Research
Ma, Miao M; Li de la Sierra-Gallay, Ines I; Lazar, Noureddine N; Pellegrini, Olivier O; Durand, Dominique D; Marchfelder, Anita A; Condon, Ciarán C; van Tilbeurgh, Herman H
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Bmc Medical Genomics
Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ
Prognostic role of genetic biomarkers in clinical progression of prostate cancer.
Experimental & Molecular Medicine
Alvarez-Cubero, Maria Jesus MJ; Martinez-Gonzalez, Luis Javier LJ; Saiz, Maria M; Carmona-Saez, Pedro P; Alvarez, Juan Carlos JC; Pascual-Geler, Manrique M; Lorente, Jose Antonio JA; Cozar, Jose Manuel JM
Publication Date: 2015-08-07
Variant appearance in text: ELAC2: A541T; rs5030739
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20
Variant appearance in text: ELAC2: 1621G>A; A541T; rs5030739
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ELAC2: A541T; rs5030739
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Jama
Taylor, Robert W RW; Pyle, Angela A; Griffin, Helen H; Blakely, Emma L EL; Duff, Jennifer J; He, Langping L; Smertenko, Tania T; Alston, Charlotte L CL; Neeve, Vivienne C VC; Best, Andrew A; Yarham, John W JW; Kirschner, Janbernd J; Schara, Ulrike U; Talim, Beril B; Topaloglu, Haluk H; Baric, Ivo I; Holinski-Feder, Elke E; Abicht, Angela A; Czermin, Birgit B; Kleinle, Stephanie S; Morris, Andrew A M AA; Vassallo, Grace G; Gorman, Grainne S GS; Ramesh, Venkateswaran V; Turnbull, Douglass M DM; Santibanez-Koref, Mauro M; McFarland, Robert R; Horvath, Rita R; Chinnery, Patrick F PF
Publication Date: 2014-07-02
Variant appearance in text: ELAC2: 1621G>A; Ala541Thr
Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.
European Urology
Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
American Journal Of Human Genetics
Haack, Tobias B TB; Kopajtich, Robert R; Freisinger, Peter P; Wieland, Thomas T; Rorbach, Joanna J; Nicholls, Thomas J TJ; Baruffini, Enrico E; Walther, Anett A; Danhauser, Katharina K; Zimmermann, Franz A FA; Husain, Ralf A RA; Schum, Jessica J; Mundy, Helen H; Ferrero, Ileana I; Strom, Tim M TM; Meitinger, Thomas T; Taylor, Robert W RW; Minczuk, Michal M; Mayr, Johannes A JA; Prokisch, Holger H
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Sequencing and analysis of a South Asian-Indian personal genome.
Bmc Genomics
Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G
Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Beuten, Joke J; Gelfond, Jonathan A L JA; Franke, Jennifer L JL; Shook, Stacey S; Johnson-Pais, Teresa L TL; Thompson, Ian M IM; Leach, Robin J RJ
Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.
The Prostate
Robbins, Christiane M CM; Hernandez, Wenndy W; Ahaghotu, Chiledum C; Bennett, James J; Hoke, Gerald G; Mason, Terry T; Pettaway, Curtis A CA; Vijayakumar, Srinivasan S; Weinrich, Sally S; Furbert-Harris, Paulette P; Dunston, Georgia G; Powell, Isaac J IJ; Carpten, John D JD; Kittles, Rick A RA
HPC2/ELAC2 polymorphisms and prostate cancer risk: analysis by age of onset of disease.
British Journal Of Cancer
Meitz, J C JC; Edwards, S M SM; Easton, D F DF; Murkin, A A; Ardern-Jones, A A; Jackson, R A RA; Williams, S S; Dearnaley, D P DP; Stratton, M R MR; Houlston, R S RS; Eeles, R A RA; ,
Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.
American Journal Of Human Genetics
Xu, J J; Zheng, S L SL; Carpten, J D JD; Nupponen, N N NN; Robbins, C M CM; Mestre, J J; Moses, T Y TY; Faith, D A DA; Kelly, B D BD; Isaacs, S D SD; Wiley, K E KE; Ewing, C M CM; Bujnovszky, P P; Chang, B B; Bailey-Wilson, J J; Bleecker, E R ER; Walsh, P C PC; Trent, J M JM; Meyers, D A DA; Isaacs, W B WB