ELAC2 c.1621G>A ;(p.A541T)

Variant ID: 17-12899902-C-T

NM_018127.6(ELAC2):c.1621G>A;(p.A541T)

This variant was identified in 53 publications

View GRCh38 version.




Publications:


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
Publication Date: 2023-04-24

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 37093546
Variant Present in the following documents:
  • Main text
  • EMMM-15-e17463.pdf
View BVdb publication page



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
Publication Date: 2023-04-03

Variant appearance in text: ELAC2: A541T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: ELAC2: 1621G>A; Ala541Thr; rs5030739
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso.

Prostate Cancer
Traoré, Aïda Djé Djénèba ADD; Ky, Bienvenu Désiré BD; Traoré, Lassina L; Zohoncon, Théodora M TM; Zouré, Abdou Azaque AA; Yonli, Albert Théophane AT; Sombié, Herman Karim HK; Sorgho, Pegdwendé Abel PA; Elvira Bazié, Bapio Valery Jean Télesphore BVJT; Tovo, Sessi Frida Appoline SFA; Kadanga, Essonan E; Bakyono, Bélélé Siméon BS; Traore, Kalifou K; Ouédraogo, Teega-Wendé Clarisse TC; Djigma, Florencia W FW; Simpore, Jacques J
Publication Date: 2022

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 36643816
Variant Present in the following documents:
  • PC2022-3610089.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: ELAC2: A541T; rs5030739
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 7
View BVdb publication page



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
Publication Date: 2022-10-14

Variant appearance in text: rs5030739
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



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
Publication Date: 2022-07-15

Variant appearance in text: rs5030739
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: ELAC2: A541T; rs5030739
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



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
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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
PubMed Link: 33087711
Variant Present in the following documents:
  • 41597_2020_703_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Zahiri, Zahra Z; Zahiri, Fatemeh F
Publication Date: 2020-06-01

Variant appearance in text: ELAC2: Ala541Thr; rs5030739
PubMed Link: 32592348
Variant Present in the following documents:
  • Main text
  • APJCP-21-1551.pdf
View BVdb publication page



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
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 12
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 11
View BVdb publication page



Prevalence of the Ser217Leu Variant of the ELAC2 Gene and Its Association with Prostate Cancer in Population of the Littoral Region of Cameroon.

Prostate Cancer
Djomkam, Alexandra Lindsey Zune ALZ; Beyeme Sala, Theodore T; Baari Memba, Clarisse C; Njimoh, Dieudonné Lemuh DL
Publication Date: 2019

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 31321101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: ELAC2: A541T; rs5030739
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Epidemiology of Prostate Cancer.

World Journal Of Oncology
Rawla, Prashanth P
Publication Date: 2019-04

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 31068988
Variant Present in the following documents:
  • wjon-10-063.pdf
View BVdb publication page



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
Publication Date: 2019-03-20

Variant appearance in text: rs5030739
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: rs5030739
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



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
PubMed Link: 30026549
Variant Present in the following documents:
  • 41598_2018_29279_MOESM1_ESM.pdf
View BVdb publication page



Role of RNF20 in cancer development and progression - a comprehensive review.

Bioscience Reports
Sethi, Gautam G; Shanmugam, Muthu K MK; Arfuso, Frank F; Kumar, Alan Prem AP
Publication Date: 2018-08-31

Variant appearance in text: rs5030739
PubMed Link: 29934362
Variant Present in the following documents:
  • bsr-38-bsr20171287.pdf
View BVdb publication page



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
Publication Date: 2017-09-19

Variant appearance in text: rs5030739
PubMed Link: 29050295
Variant Present in the following documents:
  • Main text
  • oncotarget-08-70472.pdf
View BVdb publication page



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
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



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
Publication Date: 2017-06-02

Variant appearance in text: ELAC2: A541T
PubMed Link: 28379452
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2017-02-23

Variant appearance in text: ELAC2: 1621G>A; A541T
PubMed Link: 28228131
Variant Present in the following documents:
  • 12920_2017_246_MOESM2_ESM.pdf
View BVdb publication page



Prostate Cancer Genetics: A Review.

Ejifcc
Wallis, Christopher J D CJ; Nam, Robert K RK
Publication Date: 2015-03

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 27683484
Variant Present in the following documents:
  • Main text
  • ejifcc-26-079.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HPC2: A541T
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 26251261
Variant Present in the following documents:
  • Main text
  • emm201543a.pdf
View BVdb publication page



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
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09

Variant appearance in text: ELAC2: A541T; rs5030739
PubMed Link: 25333069
Variant Present in the following documents:
  • Main text
  • mgg30002-0438.pdf
View BVdb publication page



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
PubMed Link: 25058219
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2014-10

Variant appearance in text: rs5030739
PubMed Link: 24491308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic genetic targeting of genome instability in cancer.

Cancers
Sajesh, Babu V BV; Guppy, Brent J BJ; McManus, Kirk J KJ
Publication Date: 2013-06-24

Variant appearance in text: rs5030739
PubMed Link: 24202319
Variant Present in the following documents:
  • Main text
  • cancers-05-00739.pdf
View BVdb publication page



Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer.

Balkan Journal Of Medical Genetics : Bjmg
Izmirli, M M; Arikan, B B; Bayazit, Y Y; Alptekin, D D
Publication Date: 2011-06

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 24052700
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2013-08-08

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 23849775
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2013-03

Variant appearance in text: rs5030739
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2012-08-31

Variant appearance in text: ELAC2: A541T
PubMed Link: 22938532
Variant Present in the following documents:
  • Main text
  • 1471-2164-13-440.pdf
View BVdb publication page



East meets West: ethnic differences in prostate cancer epidemiology between East Asians and Caucasians.

Chinese Journal Of Cancer
Kimura, Tomomi T
Publication Date: 2012-09

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 22085526
Variant Present in the following documents:
  • Main text
View BVdb publication page



ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.

Prostate Cancer And Prostatic Diseases
Xu, B B; Tong, N N; Li, J-m JM; Zhang, Z-d ZD; Wu, H-f HF
Publication Date: 2010-09

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 20231859
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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
Publication Date: 2010-02

Variant appearance in text: HPC2: Ala541Thr
PubMed Link: 20086112
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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
Publication Date: 2008-12-01

Variant appearance in text: ELAC2: A541T
PubMed Link: 18767027
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Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.

Carcinogenesis
Chen, Yen-Ching YC; Giovannucci, Edward E; Kraft, Peter P; J Hunter, David D
Publication Date: 2008-05

Variant appearance in text: ELAC2: Ala541Thr; rs5030739
PubMed Link: 18375959
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Genetic susceptibility to prostate cancer in men of African descent: implications for global disparities in incidence and outcomes.

The Canadian Journal Of Urology
Zeigler-Johnson, Charnita M CM; Spangler, Elaine E; Jalloh, Mohamed M; Gueye, Serigne M SM; Rennert, Hanna H; Rebbeck, Timothy R TR
Publication Date: 2008-02

Variant appearance in text: HPC2: Ala541Thr
PubMed Link: 18304397
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Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.

Bmc Molecular Biology
Chen, Yang Y; Beck, Audrey A; Davenport, Christina C; Chen, Yuan Y; Shattuck, Donna D; Tavtigian, Sean V SV
Publication Date: 2005-05-13

Variant appearance in text: ELAC2: A541T
PubMed Link: 15892892
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The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity.

Nucleic Acids Research
Takaku, Hiroaki H; Minagawa, Asako A; Takagi, Masamichi M; Nashimoto, Masayuki M
Publication Date: 2004

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 15317868
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A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease.

Nucleic Acids Research
Takaku, Hiroaki H; Minagawa, Asako A; Takagi, Masamichi M; Nashimoto, Masayuki M
Publication Date: 2003-05-01

Variant appearance in text: ELAC2: Ala541Thr
PubMed Link: 12711671
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Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer.

American Journal Of Human Genetics
Camp, Nicola J NJ; Tavtigian, Sean V SV
Publication Date: 2002-12

Variant appearance in text: HPC2: Ala541Thr
PubMed Link: 12515253
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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; ,
Publication Date: 2002-10-07

Variant appearance in text: ELAC2: A541T
PubMed Link: 12373607
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  • 87-6600564a.pdf
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Complex genetic diseases: controversy over the Croesus code.

Genome Biology
Wright, A F AF; Hastie, N D ND
Publication Date: 2001

Variant appearance in text: ELAC2: A541T
PubMed Link: 11532206
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  • gb-2001-2-8-comment2007.pdf
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HPC2 variants and screen-detected prostate cancer.

American Journal Of Human Genetics
Vesprini, D D; Nam, R K RK; Trachtenberg, J J; Jewett, M A MA; Tavtigian, S V SV; Emami, M M; Ho, M M; Toi, A A; Narod, S A SA
Publication Date: 2001-04

Variant appearance in text: HPC2: Ala541Thr
PubMed Link: 11254449
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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
Publication Date: 2001-04

Variant appearance in text: HPC2: Ala541Thr
PubMed Link: 11254448
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