Publications:

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Once upon a Testis: The Tale of Cyclic Nucleotide Phosphodiesterase in Testicular Cancers.

International Journal Of Molecular Sciences

Campolo, Federica F; Assenza, Maria Rita MR; Venneri, Mary Anna MA; Barbagallo, Federica F

Publication Date: 2023-04-20

Variant appearance in text: PDE11A: Y727C

PubMed Link: 37108780

Variant Present in the following documents:

• Main text
• ijms-24-07617.pdf

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: PDE11A: Y727C

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 6

View BVdb publication page

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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: PDE11A: Y727C

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Conserved age-related increases in hippocampal PDE11A4 cause unexpected proteinopathies and cognitive decline of social associative memories.

Aging Cell

Pilarzyk, Katy K; Porcher, Latarsha L; Capell, William R WR; Burbano, Steven D SD; Davis, Jeff J; Fisher, Janet L JL; Gorny, Nicole N; Petrolle, Siena S; Kelly, Michy P MP

Publication Date: 2022-10

Variant appearance in text: PDE11A: Y727C

PubMed Link: 36073342

Variant Present in the following documents:

• Main text
• ACEL-21-e13687.pdf

View BVdb publication page

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Functional characteristics and research trends of PDE11A in human diseases (Review).

Molecular Medicine Reports

Kong, Gyeyeong G; Lee, Hyunji H; Vo, Thuy-Trang T TT; Juang, Uijin U; Kwon, So Hee SH; Park, Jisoo J; Park, Jongsun J; Kim, Seon-Hwan SH

Publication Date: 2022-10

Variant appearance in text: PDE11A: Y727C

PubMed Link: 35929507

Variant Present in the following documents:

• Main text
• mmr-26-04-12814.pdf

View BVdb publication page

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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: PDE11A: Y727C; rs17400325

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Human Molecular Genetics

Guggenheim, Jeremy A JA; Clark, Rosie R; Cui, Jiangtian J; Terry, Louise L; Patasova, Karina K; Haarman, Annechien E G AEG; Musolf, Anthony M AM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE; Hysi, Pirro G PG; Williams, Cathy C; , ; ,

Publication Date: 2022-06-04

Variant appearance in text: rs17400325

PubMed Link: 35022715

Variant Present in the following documents:

• Main text
• hmg_r2_supplement_ddac004.pdf
• ddac004.pdf

View BVdb publication page

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Ischemic Stroke and Sleep: The Linking Genetic Factors.

Cardiology And Therapy

Korostovtseva, Lyudmila L

Publication Date: 2021-12

Variant appearance in text: PDE11A: Tyr727Cys

PubMed Link: 34191267

Variant Present in the following documents:

• Main text
• 40119_2021_Article_231.pdf

View BVdb publication page

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Longer sleep duration may negatively affect renal function.

International Urology And Nephrology

Mazidi, Mohsen M; Shekoohi, Niloofar N; Katsiki, Niki N; Banach, Maciej M

Publication Date: 2021-02

Variant appearance in text: rs17400325

PubMed Link: 32970283

Variant Present in the following documents:

• Main text
• 11255_2020_Article_2624.pdf

View BVdb publication page

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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology

Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ

Publication Date: 2020-04

Variant appearance in text: rs17400325

PubMed Link: 31884074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.

Nature Communications

Jones, Samuel E SE; van Hees, Vincent T VT; Mazzotti, Diego R DR; Marques-Vidal, Pedro P; Sabia, Séverine S; van der Spek, Ashley A; Dashti, Hassan S HS; Engmann, Jorgen J; Kocevska, Desana D; Tyrrell, Jessica J; Beaumont, Robin N RN; Hillsdon, Melvyn M; Ruth, Katherine S KS; Tuke, Marcus A MA; Yaghootkar, Hanieh H; Sharp, Seth A SA; Ji, Yingjie Y; Harrison, Jamie W JW; Freathy, Rachel M RM; Murray, Anna A; Luik, Annemarie I AI; Amin, Najaf N; Lane, Jacqueline M JM; Saxena, Richa R; Rutter, Martin K MK; Tiemeier, Henning H; Kutalik, Zoltán Z; Kumari, Meena M; Frayling, Timothy M TM; Weedon, Michael N MN; Gehrman, Philip R PR; Wood, Andrew R AR

Publication Date: 2019-04-05

Variant appearance in text: PDE11A: Tyr727Cys; rs17400325

PubMed Link: 30952852

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17400325

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: PDE11A: Y727C; rs17400325

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Nature Genetics

Tedja, Milly S MS; Wojciechowski, Robert R; Hysi, Pirro G PG; Eriksson, Nicholas N; Furlotte, Nicholas A NA; Verhoeven, Virginie J M VJM; Iglesias, Adriana I AI; Meester-Smoor, Magda A MA; Tompson, Stuart W SW; Fan, Qiao Q; Khawaja, Anthony P AP; Cheng, Ching-Yu CY; Höhn, René R; Yamashiro, Kenji K; Wenocur, Adam A; Grazal, Clare C; Haller, Toomas T; Metspalu, Andres A; Wedenoja, Juho J; Jonas, Jost B JB; Wang, Ya Xing YX; Xie, Jing J; Mitchell, Paul P; Foster, Paul J PJ; Klein, Barbara E K BEK; Klein, Ronald R; Paterson, Andrew D AD; Hosseini, S Mohsen SM; Shah, Rupal L RL; Williams, Cathy C; Teo, Yik Ying YY; Tham, Yih Chung YC; Gupta, Preeti P; Zhao, Wanting W; Shi, Yuan Y; Saw, Woei-Yuh WY; Tai, E-Shyong ES; Sim, Xue Ling XL; Huffman, Jennifer E JE; Polašek, Ozren O; Hayward, Caroline C; Bencic, Goran G; Rudan, Igor I; Wilson, James F JF; , ; , ; , ; Joshi, Peter K PK; Tsujikawa, Akitaka A; Matsuda, Fumihiko F; Whisenhunt, Kristina N KN; Zeller, Tanja T; van der Spek, Peter J PJ; Haak, Roxanna R; Meijers-Heijboer, Hanne H; van Leeuwen, Elisabeth M EM; Iyengar, Sudha K SK; Lass, Jonathan H JH; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Vingerling, Johannes R JR; Lehtimäki, Terho T; Raitakari, Olli T OT; Biino, Ginevra G; Concas, Maria Pina MP; Schwantes-An, Tae-Hwi TH; Igo, Robert P RP; Cuellar-Partida, Gabriel G; Martin, Nicholas G NG; Craig, Jamie E JE; Gharahkhani, Puya P; Williams, Katie M KM; Nag, Abhishek A; Rahi, Jugnoo S JS; Cumberland, Phillippa M PM; Delcourt, Cécile C; Bellenguez, Céline C; Ried, Janina S JS; Bergen, Arthur A AA; Meitinger, Thomas T; Gieger, Christian C; Wong, Tien Yin TY; Hewitt, Alex W AW; Mackey, David A DA; Simpson, Claire L CL; Pfeiffer, Norbert N; Pärssinen, Olavi O; Baird, Paul N PN; Vitart, Veronique V; Amin, Najaf N; van Duijn, Cornelia M CM; Bailey-Wilson, Joan E JE; Young, Terri L TL; Saw, Seang-Mei SM; Stambolian, Dwight D; MacGregor, Stuart S; Guggenheim, Jeremy A JA; Tung, Joyce Y JY; Hammond, Christopher J CJ; Klaver, Caroline C W CCW

Publication Date: 2018-06

Variant appearance in text: PDE11A: Y727C; rs17400325

PubMed Link: 29808027

Variant Present in the following documents:

• Main text
• nihms954993.pdf

View BVdb publication page

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INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

Retina (Philadelphia, Pa.)

Wojciechowski, Robert R; Cheng, Ching-Yu CY

Publication Date: 2018-01

Variant appearance in text: rs17400325

PubMed Link: 28406858

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting the morbid genome of Mendelian disorders.

Genome Biology

Abouelhoda, Mohamed M; Faquih, Tariq T; El-Kalioby, Mohamed M; Alkuraya, Fowzan S FS

Publication Date: 2016-11-24

Variant appearance in text: rs17400325

PubMed Link: 27884173

Variant Present in the following documents:

• 13059_2016_1102_MOESM3_ESM.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: PDE11A: Y727C; rs17400325

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent.

Molecular Vision

Chen, Fei F; Duggal, Priya P; Klein, Barbara E K BE; Lee, Kristine E KE; Truitt, Barbara B; Klein, Ronald R; Iyengar, Sudha K SK; Klein, Alison P AP

Publication Date: 2016

Variant appearance in text: rs17400325

PubMed Link: 27440996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs17400325

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-13.pdf

View BVdb publication page

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Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.

Oncotarget

French, Juliet D JD; Johnatty, Sharon E SE; Lu, Yi Y; Beesley, Jonathan J; Gao, Bo B; Kalimutho, Murugan M; Henderson, Michelle J MJ; Russell, Amanda J AJ; Kar, Siddhartha S; Chen, Xiaoqing X; Hillman, Kristine M KM; Kaufmann, Susanne S; Sivakumaran, Haran H; O'Reilly, Martin M; Wang, Chen C; Korbie, Darren J DJ; , ; , ; Lambrechts, Diether D; Despierre, Evelyn E; Van Nieuwenhuysen, Els E; Lambrechts, Sandrina S; Vergote, Ignace I; Karlan, Beth B; Lester, Jenny J; Orsulic, Sandra S; Walsh, Christine C; Fasching, Peter A PA; Beckmann, Matthias W MW; Ekici, Arif B AB; Hein, Alexander A; Matsuo, Keitaro K; Hosono, Satoyo S; Pisterer, Jacobus J; Hillemanns, Peter P; Nakanishi, Toru T; Yatabe, Yasushi Y; Goodman, Marc T MT; Lurie, Galina G; Matsuno, Rayna K RK; Thompson, Pamela J PJ; Pejovic, Tanja T; Bean, Yukie Y; Heitz, Florian F; Harter, Philipp P; du Bois, Andreas A; Schwaab, Ira I; Hogdall, Estrid E; Kjaer, Susanne K SK; Jensen, Allan A; Hogdall, Claus C; Lundvall, Lene L; Engelholm, Svend Aage SA; Brown, Bob B; Flanagan, James M JM; Metcalf, Michelle D MD; Siddiqui, Nadeem N; Sellers, Thomas T; Fridley, Brooke B; Cunningham, Julie J; Schildkraut, Joellen M JM; Iversen, Ed E; Weber, Rachel Palmieri RP; Brennan, Donal D; Berchuck, Andrew A; Pharoah, Paul P; Harnett, Paul P; Norris, Murray D MD; Haber, Michelle M; Goode, Ellen L EL; Lee, Jason S JS; Khanna, Kum Kum KK; Meyer, Kerstin B KB; Chenevix-Trench, Georgia G; deFazio, Anna A; Edwards, Stacey L SL; MacGregor, Stuart S; ,

Publication Date: 2016-02-09

Variant appearance in text: rs17400325

PubMed Link: 26840454

Variant Present in the following documents:

• oncotarget-07-6353-s001.pdf

View BVdb publication page

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Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocrine-Related Cancer

Pathak, Anand A; Stewart, Douglas R DR; Faucz, Fabio R FR; Xekouki, Paraskevi P; Bass, Sara S; Vogt, Aurelie A; Zhang, Xijun X; Boland, Joseph J; Yeager, Meredith M; Loud, Jennifer T JT; Nathanson, Katherine L KL; McGlynn, Katherine A KA; Stratakis, Constantine A CA; Greene, Mark H MH; Mirabello, Lisa L

Publication Date: 2015-12

Variant appearance in text: PDE11A: 2180A>G; Y727C

PubMed Link: 26459559

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phosphodiesterase sequence variants may predispose to prostate cancer.

Endocrine-Related Cancer

de Alexandre, Rodrigo B RB; Horvath, Anelia D AD; Szarek, Eva E; Manning, Allison D AD; Leal, Leticia F LF; Kardauke, Fabio F; Epstein, Jonathan A JA; Carraro, Dirce M DM; Soares, Fernando A FA; Apanasovich, Tatiyana V TV; Stratakis, Constantine A CA; Faucz, Fabio R FR

Publication Date: 2015-08

Variant appearance in text: rs17400325

PubMed Link: 25979379

Variant Present in the following documents:

• Main text

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs17400325

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, 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: PDE11A: Y727C; rs17400325

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs17400325

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

The Journal Of Clinical Endocrinology And Metabolism

Azevedo, Monalisa F MF; Horvath, Anelia A; Bornstein, Ethan R ER; Almeida, Madson Q MQ; Xekouki, Paraskevi P; Faucz, Fabio R FR; Gourgari, Evgenia E; Nadella, Kiran K; Remmers, Elaine F EF; Quezado, Martha M; de Alexandre, Rodrigo Bertollo RB; Kratz, Christian P CP; Nesterova, Maria M; Greene, Mark H MH; Stratakis, Constantine A CA

Publication Date: 2013-08

Variant appearance in text: PDE11A: 2180A>G; Y727C

PubMed Link: 23771924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Plos Genetics

Kiefer, Amy K AK; Tung, Joyce Y JY; Do, Chuong B CB; Hinds, David A DA; Mountain, Joanna L JL; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013

Variant appearance in text: rs17400325

PubMed Link: 23468642

Variant Present in the following documents:

• Main text
• pgen.1003299.pdf

View BVdb publication page

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Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

The Journal Of Clinical Endocrinology And Metabolism

Vezzosi, Delphine D; Libé, Rossella R; Baudry, Camille C; Rizk-Rabin, Marthe M; Horvath, Anelia A; Levy, Isaac I; René-Corail, Fernande F; Ragazzon, Bruno B; Stratakis, Constantine A CA; Vandecasteele, Grégoire G; Bertherat, Jérôme J

Publication Date: 2012-11

Variant appearance in text: PDE11A: Y727C

PubMed Link: 22996146

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

The Journal Of Clinical Endocrinology And Metabolism

Libé, Rossella R; Horvath, Anelia A; Vezzosi, Delphine D; Fratticci, Amato A; Coste, Joel J; Perlemoine, Karine K; Ragazzon, Bruno B; Guillaud-Bataille, Marine M; Groussin, Lionel L; Clauser, Eric E; Raffin-Sanson, Marie-Laure ML; Siegel, Jennifer J; Moran, Jason J; Drori-Herishanu, Limor L; Faucz, Fabio Rueda FR; Lodish, Maya M; Nesterova, Maria M; Bertagna, Xavier X; Bertherat, Jerome J; Stratakis, Constantine A CA

Publication Date: 2011-01

Variant appearance in text:

PubMed Link: 21047926

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

The Journal Of Clinical Endocrinology And Metabolism

Faucz, Fabio Rueda FR; Horvath, Anelia A; Rothenbuhler, Anya A; Almeida, Madson Q MQ; Libé, Rossella R; Raffin-Sanson, Marie-Laure ML; Bertherat, Jerome J; Carraro, Dirce Maria DM; Soares, Fernando Augusto FA; Molina, Gustavo de Campos Gde C; Campos, Antonio H AH; Alexandre, Rodrigo B RB; Bendhack, Marcelo Luiz ML; Nesterova, Maria M; Stratakis, Constantine A CA

Publication Date: 2011-01

Variant appearance in text: PDE11A: Y727C

PubMed Link: 20881257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.

Cancer Research

Horvath, Anelia A; Korde, Larissa L; Greene, Mark H MH; Libe, Rossella R; Osorio, Paulo P; Faucz, Fabio Rueda FR; Raffin-Sanson, Marie Laure ML; Tsang, Kit Man KM; Drori-Herishanu, Limor L; Patronas, Yianna Y; Remmers, Elaine F EF; Nikita, Maria Eleni ME; Moran, Jason J; Greene, Joseph J; Nesterova, Maria M; Merino, Maria M; Bertherat, Jerome J; Stratakis, Constantine A CA

Publication Date: 2009-07-01

Variant appearance in text: PDE11A: 2180A>G; Y727C

PubMed Link: 19549888

Variant Present in the following documents:

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Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Libé, Rossella R; Fratticci, Amato A; Coste, Joel J; Tissier, Frédérique F; Horvath, Anelia A; Ragazzon, Bruno B; Rene-Corail, Fernande F; Groussin, Lionel L; Bertagna, Xavier X; Raffin-Sanson, Marie Laure ML; Stratakis, Constantine A CA; Bertherat, Jérome J

Publication Date: 2008-06-15

Variant appearance in text: PDE11A: Tyr727Cys

PubMed Link: 18559625

Variant Present in the following documents:

• Main text

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