Publications:

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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: RNASEL: I97L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

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Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports

Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y

Publication Date: 2022-08

Variant appearance in text: RNASEL: I97L; rs56250729

PubMed Link: 35815187

Variant Present in the following documents:

• Supplementary_Data.xlsx, sheet 1

View BVdb publication page

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Protective Innate Immune Variants in Racial/Ethnic Disparities of Breast and Prostate Cancer.

Cancer Immunology Research

Yeyeodu, Susan T ST; Kidd, LaCreis R LR; Kimbro, K Sean KS

Publication Date: 2019-09

Variant appearance in text: rs56250729

PubMed Link: 31481520

Variant Present in the following documents:

• Main text

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: RNASEL: I97L; rs56250729

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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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: rs56250729

PubMed Link: 29050295

Variant Present in the following documents:

• Main text
• oncotarget-08-70472.pdf

View BVdb publication page

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Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Oncotarget

Karyadi, Danielle M DM; Geybels, Milan S MS; Karlins, Eric E; Decker, Brennan B; McIntosh, Laura L; Hutchinson, Amy A; Kolb, Suzanne S; McDonnell, Shannon K SK; Hicks, Belynda B; Middha, Sumit S; FitzGerald, Liesel M LM; DeRycke, Melissa S MS; Yeager, Meredith M; Schaid, Daniel J DJ; Chanock, Stephen J SJ; Thibodeau, Stephen N SN; Berndt, Sonja I SI; Stanford, Janet L JL; Ostrander, Elaine A EA

Publication Date: 2017-01-03

Variant appearance in text: RNASEL: I97L

PubMed Link: 27902461

Variant Present in the following documents:

• oncotarget-08-1495-s003.xlsx, sheet 1

View BVdb publication page

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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: rs56250729

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: RNASEL: I97L; rs56250729

PubMed Link: 26251261

Variant Present in the following documents:

• Main text
• emm201543a.pdf

View BVdb publication page

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Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.

Biomed Research International

Datta, Amit A; Mazumder, Md Habibul Hasan MH; Chowdhury, Afrin Sultana AS; Hasan, Md Anayet MA

Publication Date: 2015

Variant appearance in text: rs56250729

PubMed Link: 26236721

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RNASEL: I97L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: RNASEL: 289A>C; I97L; rs56250729

PubMed Link: 26092435

Variant Present in the following documents:

• Main text
• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: RNASEL: I97L; rs56250729

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: RNASEL: I97L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1
• NIHMS551112-supplement-9.xlsx, sheet 1

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Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a Hispanic population.

Journal Of Cellular And Molecular Medicine

San Francisco, Ignacio F IF; Rojas, Pablo A PA; Torres-Estay, Verónica V; Smalley, Susan S; Cerda-Infante, Javier J; Montecinos, Viviana P VP; Hurtado, Claudia C; Godoy, Alejandro S AS

Publication Date: 2014-01

Variant appearance in text: RNASEL: Ile97Leu

PubMed Link: 24224612

Variant Present in the following documents:

• Main text
• jcmm0018-0125.pdf

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The potential impact of adding genetic markers to clinical parameters in managing high-risk prostate cancer patients.

Springerplus

Alvarez-Cubero, Maria Jesus MJ; Martinez-Gonzalez, Luis Javier LJ; Vazquez-Alonso, Fernando F; Saiz, Maria M; Alvarez, Juan Carlos JC; Lorente, Jose Antonio JA; Cozar, Jose Manuel JM

Publication Date: 2013

Variant appearance in text: RNASEL: I97L; rs56250729

PubMed Link: 24046815

Variant Present in the following documents:

• Main text
• 40064_2013_Article_503.pdf

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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: RNASEL: I97L; rs56250729

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

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Genetic variation in RNASEL and risk for prostate cancer in a population-based case-control study.

The Prostate

Fesinmeyer, Megan D MD; Kwon, Erika M EM; Fu, Rong R; Ostrander, Elaine A EA; Stanford, Janet L JL

Publication Date: 2011-10-01

Variant appearance in text: RNASEL: Ile97Leu; rs56250729

PubMed Link: 21360564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.

Plos One

Madsen, Bo Eskerod BE; Ramos, Eliana Marisa EM; Boulard, Mathieu M; Duda, Katarzyna K; Overgaard, Jens J; Nordsmark, Marianne M; Wiuf, Carsten C; Hansen, Lise Lotte LL

Publication Date: 2008-06-25

Variant appearance in text: RNASEL: I97L

PubMed Link: 18575592

Variant Present in the following documents:

• Main text
• pone.0002492.pdf

View BVdb publication page

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Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene.

British Journal Of Cancer

Maier, C C; Haeusler, J J; Herkommer, K K; Vesovic, Z Z; Hoegel, J J; Vogel, W W; Paiss, T T

Publication Date: 2005-03-28

Variant appearance in text: RNASEL: I97L

PubMed Link: 15714208

Variant Present in the following documents:

• Main text
• 92-6602401a.pdf

View BVdb publication page

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Analysis of the RNASEL gene in familial and sporadic prostate cancer.

American Journal Of Human Genetics

Wang, Liang L; McDonnell, Shannon K SK; Elkins, David A DA; Slager, Susan L SL; Christensen, Eric E; Marks, Angela F AF; Cunningham, Julie M JM; Peterson, Brett J BJ; Jacobsen, Steven J SJ; Cerhan, James R JR; Blute, Michael L ML; Schaid, Daniel J DJ; Thibodeau, Stephen N SN

Publication Date: 2002-07

Variant appearance in text: RNASEL: Ile97Leu

PubMed Link: 12022038

Variant Present in the following documents:

• Main text

View BVdb publication page

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