AMPD1 c.34C>T ;(p.Q12*)

Variant ID: 1-115236057-G-A

NM_000036.3(AMPD1):c.34C>T;(p.Q12*)

This variant was identified in 85 publications

View GRCh38 version.




Publications:


Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy.

Biomedicines
Brlek, Petar P; Bulić, Luka L; Glavaš Weinberger, David D; Bošnjak, Jelena J; Pavlović, Tomislav T; Tomić, Svetlana S; Krivdić Dupan, Zdravka Z; Borić, Igor I; Primorac, Dragan D
Publication Date: 2023-05-12

Variant appearance in text: AMPD1: 133C>T
PubMed Link: 37239101
Variant Present in the following documents:
  • biomedicines-11-01430.pdf
View BVdb publication page



Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study.

Bmc Genomic Data
Herold, Janina M JM; Nano, Jana J; Gorski, Mathias M; Winkler, Thomas W TW; Stanzick, Kira J KJ; Zimmermann, Martina E ME; Brandl, Caroline C; Peters, Annette A; Koenig, Wolfgang W; Burkhardt, Ralph R; Gessner, André A; Heid, Iris M IM; Gieger, Christian C; Stark, Klaus J KJ
Publication Date: 2023-05-25

Variant appearance in text: rs17602729
PubMed Link: 37231333
Variant Present in the following documents:
  • 12863_2023_1130_MOESM1_ESM.pdf
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs17602729
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players.

Frontiers In Genetics
Maestro, Antonio A; Del Coso, Juan J; Aguilar-Navarro, Millán M; Gutiérrez-Hellín, Jorge J; Morencos, Esther E; Revuelta, Gonzalo G; Ruiz Casares, Eva E; Perucho, Teresa T; Varillas-Delgado, David D
Publication Date: 2022

Variant appearance in text: rs17602729
PubMed Link: 36468031
Variant Present in the following documents:
  • Main text
  • fgene-13-1035899.pdf
View BVdb publication page



Genetic Variations between Youth and Professional Development Phase English Academy Football Players.

Genes
McAuley, Alexander B T ABT; Hughes, David C DC; Tsaprouni, Loukia G LG; Varley, Ian I; Suraci, Bruce B; Baker, Joseph J; Herbert, Adam J AJ; Kelly, Adam L AL
Publication Date: 2022-11-01

Variant appearance in text: rs17602729
PubMed Link: 36360238
Variant Present in the following documents:
  • genes-13-02001.pdf
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: AMPD1: 133C>T; Gln45*
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Genetic profiles to identify talents in elite endurance athletes and professional football players.

Plos One
Varillas-Delgado, David D; Morencos, Esther E; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Mendoza Láiz, Nuria N; Perucho, Teresa T; Maestro, Antonio A; Tellería-Orriols, Juan José JJ
Publication Date: 2022

Variant appearance in text: rs17602729
PubMed Link: 36112609
Variant Present in the following documents:
  • Main text
  • pone.0274880.pdf
View BVdb publication page



Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Cardiology Research And Practice
Yu, Xing X; Fan, Yuxuan Y; Sun, Xiaopeng X; Wang, Xiaojing X; Guo, Qi Q; Fan, Zhiqing Z
Publication Date: 2022

Variant appearance in text: rs17602729
PubMed Link: 36032316
Variant Present in the following documents:
  • CRP2022-9742071.pdf
  • 9742071.f1.xlsx, sheet 1
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: AMPD1: Q45X; rs17602729
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM3_ESM.xlsx, sheet 1
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and Clinical Factors Associated with Olokizumab Treatment in Russian Patients with Rheumatoid Arthritis.

Journal Of Personalized Medicine
Mikhaylenko, Dmitry S DS; Kuznetsova, Ekaterina B EB; Musatova, Viktoria V VV; Bure, Irina V IV; Deryagina, Tatiana A TA; Alekseeva, Ekaterina A EA; Tarasov, Vadim V VV; Zamyatnin, Andrey A AA; Nemtsova, Marina V MV
Publication Date: 2022-04-15

Variant appearance in text: rs17602729
PubMed Link: 35455757
Variant Present in the following documents:
  • Main text
  • jpm-12-00641.pdf
View BVdb publication page



Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.

European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Publication Date: 2022-08

Variant appearance in text: rs17602729
PubMed Link: 35428907
Variant Present in the following documents:
  • Main text
  • 421_2022_Article_4945.pdf
View BVdb publication page



Speed and power-related gene polymorphisms associated with playing position in elite soccer players.

Biology Of Sport
Petr, Miroslav M; Thiel, Dan D; Kateřina, Kvapilová K; Brož, Petr P; Malý, Tomáš T; Zahálka, František F; Vostatková, Pavlína P; Wilk, Michal M; Chycki, Jakub J; Stastny, Petr P
Publication Date: 2022-03

Variant appearance in text: rs17602729
PubMed Link: 35309536
Variant Present in the following documents:
  • Main text
  • JBS-39-105333.pdf
View BVdb publication page



Genetic characteristics of competitive swimmers: a review.

Biology Of Sport
Ben-Zaken, Sigal S; Eliakim, Alon A; Nemet, Dan D; Kaufman, Leonid L; Meckel, Yoav Y
Publication Date: 2022-01

Variant appearance in text: rs17602729
PubMed Link: 35173374
Variant Present in the following documents:
  • Main text
  • JBS-39-102868.pdf
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: AMPD1: Q45X; rs17602729
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Candidate Genes of Regulation of Skeletal Muscle Energy Metabolism in Athletes.

Genes
Balberova, Olga V OV; Bykov, Evgeny V EV; Medvedev, German V GV; Zhogina, Margarita A MA; Petrov, Kirill V KV; Petrova, Marina M MM; Al-Zamil, Mustafa M; Trefilova, Vera V VV; Goncharova, Polina S PS; Shnayder, Natalia A NA
Publication Date: 2021-10-23

Variant appearance in text: rs17602729
PubMed Link: 34828287
Variant Present in the following documents:
  • Main text
  • genes-12-01682.pdf
View BVdb publication page



Genetic Profile in Genes Associated with Cardiorespiratory Fitness in Elite Spanish Male Endurance Athletes.

Genes
Varillas-Delgado, David D; Tellería Orriols, Juan José JJ; Del Coso, Juan J
Publication Date: 2021-08-10

Variant appearance in text: AMPD1: Gln45Ter
PubMed Link: 34440404
Variant Present in the following documents:
  • genes-12-01230.pdf
View BVdb publication page



Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes.

Genes
Pranckeviciene, Erinija E; Gineviciene, Valentina V; Jakaitiene, Audrone A; Januska, Laimonas L; Utkus, Algirdas A
Publication Date: 2021-07-13

Variant appearance in text: rs17602729
PubMed Link: 34356082
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.

Nature Communications
Stanzick, Kira J KJ; Li, Yong Y; Schlosser, Pascal P; Gorski, Mathias M; Wuttke, Matthias M; Thomas, Laurent F LF; Rasheed, Humaira H; Rowan, Bryce X BX; Graham, Sarah E SE; Vanderweff, Brett R BR; Patil, Snehal B SB; , ; Robinson-Cohen, Cassiane C; Gaziano, John M JM; O'Donnell, Christopher J CJ; Willer, Cristen J CJ; Hallan, Stein S; Åsvold, Bjørn Olav BO; Gessner, Andre A; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A; Stark, Klaus J KJ; Heid, Iris M IM; Winkler, Thomas W TW
Publication Date: 2021-07-16

Variant appearance in text: AMPD1: Gln45Ter; rs17602729
PubMed Link: 34272381
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_24491.pdf
  • 41467_2021_24491_MOESM1_ESM.pdf
View BVdb publication page



Molecular Portrait of an Athlete.

Diagnostics (Basel, Switzerland)
Malsagova, Kristina A KA; Butkova, Tatyana V TV; Kopylov, Arthur T AT; Izotov, Alexander A AA; Rudnev, Vladimir R VR; Klyuchnikov, Mikhail S MS; Stepanov, Alexander A AA; Kaysheva, Anna L AL
Publication Date: 2021-06-15

Variant appearance in text: rs17602729
PubMed Link: 34203902
Variant Present in the following documents:
  • diagnostics-11-01095.pdf
View BVdb publication page



Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients.

Journal Of Personalized Medicine
Vetchinkina, Ekaterina A EA; Mikhaylenko, Dmitry S DS; Kuznetsova, Ekaterina B EB; Deryagina, Tatiana A TA; Alekseeva, Ekaterina A EA; Bure, Irina V IV; Zamyatnin, Andrey A AA; Nemtsova, Marina V MV
Publication Date: 2021-05-25

Variant appearance in text: rs17602729
PubMed Link: 34070522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Influence in Exercise Performance.

Genes
Del Coso, Juan J; Lucia, Alejandro A
Publication Date: 2021-04-27

Variant appearance in text: rs17602729
PubMed Link: 33925504
Variant Present in the following documents:
  • Main text
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: AMPD1: 133C>T; Q45X; rs17602729
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: AMPD1: Q45X; rs17602729
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: AMPD1: 133C>T; Q45X; rs17602729
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Frontiers In Neurology
Chakravorty, Samya S; Nallamilli, Babi Ramesh Reddy BRR; Khadilkar, Satish Vasant SV; Singla, Madhu Bala MB; Bhutada, Ashish A; Dastur, Rashna R; Gaitonde, Pradnya Satish PS; Rufibach, Laura E LE; Gloster, Logan L; Hegde, Madhuri M
Publication Date: 2020

Variant appearance in text: AMPD1: 133C>T; Q45X
PubMed Link: 33250842
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic test for the personalization of sport training.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Perrone, Marco M; Paolacci, Stefano S; Maltese, Paolo Enrico PE; Dhuli, Kristjana K; Kurti, Danjela D; Dautaj, Astrit A; Miotto, Roberta R; Casadei, Arianna A; Fioretti, Bernard B; Beccari, Tommaso T; Romeo, Francesco F; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs17602729
PubMed Link: 33170162
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic test for Mendelian fatigue and muscle weakness syndromes.

Acta Bio-Medica : Atenei Parmensis
Kiani, Aysha Karim AK; Amato, Bruno B; Maitz, Silvia S; Nodari, Savina S; Benedetti, Sabrina S; Agostini, Francesca F; Lorusso, Lorenzo L; Capelli, Enrica E; Dautaj, Astrit A; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: AMPD1: 133C>T; Gln45*
PubMed Link: 33170160
Variant Present in the following documents:
  • Main text
  • ACTA-91-01.pdf
View BVdb publication page



The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Human Genetics
Stenson, Peter D PD; Mort, Matthew M; Ball, Edward V EV; Chapman, Molly M; Evans, Katy K; Azevedo, Luisa L; Hayden, Matthew M; Heywood, Sally S; Millar, David S DS; Phillips, Andrew D AD; Cooper, David N DN
Publication Date: 2020-10

Variant appearance in text: AMPD1: Gln45*
PubMed Link: 32596782
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic profile of elite youth soccer players and its association with power and speed depends on maturity status.

Plos One
Murtagh, Conall F CF; Brownlee, Thomas E TE; Rienzi, Edgardo E; Roquero, Sebastian S; Moreno, Sacha S; Huertas, Gustavo G; Lugioratto, Giovani G; Baumert, Philipp P; Turner, Daniel C DC; Lee, Dongsun D; Dickinson, Peter P; Lyon, K Amber KA; Sheikhsaraf, Bahare B; Biyik, Betül B; O'Boyle, Andrew A; Morgans, Ryland R; Massey, Andrew A; Drust, Barry B; Erskine, Robert M RM
Publication Date: 2020

Variant appearance in text: rs17602729
PubMed Link: 32569264
Variant Present in the following documents:
  • Main text
  • pone.0234458.pdf
View BVdb publication page



The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.

Scientific Reports
Noury, Jean-Baptiste JB; Zagnoli, Fabien F; Petit, François F; Le Maréchal, Cédric C; Marcorelles, Pascale P; Rannou, Fabrice F
Publication Date: 2020-06-01

Variant appearance in text: AMPD1: 133C>T
PubMed Link: 32483371
Variant Present in the following documents:
  • 41598_2020_Article_65797.pdf
View BVdb publication page



AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.

Genes
Leońska-Duniec, Agata A; Maculewicz, Ewelina E; Humińska-Lisowska, Kinga K; Maciejewska-Skrendo, Agnieszka A; Leźnicka, Katarzyna K; Cięszczyk, Paweł P; Sawczuk, Marek M; Trybek, Grzegorz G; Wilk, Michal M; Lepionka, Weronika W; Ficek, Krzysztof K
Publication Date: 2020-05-16

Variant appearance in text: rs17602729
PubMed Link: 32429460
Variant Present in the following documents:
  • Main text
View BVdb publication page



Are gene polymorphisms related to adverse events of methotrexate in patients with rheumatoid arthritis? A retrospective cohort study based on an updated meta-analysis.

Therapeutic Advances In Chronic Disease
Huang, Jing J; Fan, Huizhen H; Qiu, Qi Q; Liu, Kunpeng K; Lv, Shuang S; Li, Jiang J; Yang, Hui H; Shu, Xiaoming X; Xu, Yuan Y; Lu, Xiangchen X; Lu, Cheng C; Zhang, Yunnan Y; Xiao, Cheng C
Publication Date: 2020

Variant appearance in text: rs17602729
PubMed Link: 32426102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: rs17602729
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
  • jcdd-07-00016.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: AMPD1: 133C>T; Gln45Ter
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region.

Leukemia Research Reports
Carvalho, Darlen Cardoso DC; Wanderley, Alayde Vieira AV; Mello Junior, Fernando Augusto Rodrigues FAR; Santos, André Mauricio Ribeiro Dos AMRD; Leitão, Luciana Pereira Colares LPC; Souza, Tatiane Piedade de TP; Castro, Amanda de Nazaré Cohen Lima de ANCL; Magalhães, Leandro Lopes de LL; Fernandes, Marianne Rodrigues MR; Carvalho Junior, João Augusto Nunes de JAN; Khayat, André Salim AS; Santos, Sidney S; Assumpção, Paulo Pimentel de PP; Dos Santos, Ney Pereira Carneiro NPC
Publication Date: 2020

Variant appearance in text: AMPD1: Gln45Ter; rs17602729
PubMed Link: 31867206
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: rs17602729
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 20
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: AMPD1: 133C>T; Gln45Ter; rs17602729
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: AMPD1: Q45X; rs17602729
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Markers Associated with Power Athlete Status.

Journal Of Human Kinetics
Maciejewska-Skrendo, Agnieszka A; Cięszczyk, Paweł P; Chycki, Jakub J; Sawczuk, Marek M; Smółka, Wojciech W
Publication Date: 2019-08

Variant appearance in text: rs17602729
PubMed Link: 31531130
Variant Present in the following documents:
  • Main text
  • hukin-68-017.pdf
View BVdb publication page



Genes and Elite Marathon Running Performance: A Systematic Review.

Journal Of Sports Science & Medicine
Moir, Hannah J HJ; Kemp, Rachael R; Folkerts, Dirk D; Spendiff, Owen O; Pavlidis, Cristina C; Opara, Elizabeth E
Publication Date: 2019-09

Variant appearance in text: rs17602729
PubMed Link: 31427879
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Potential Role of Genomic Medicine in the Therapeutic Management of Rheumatoid Arthritis.

Journal Of Clinical Medicine
Acosta-Herrera, Marialbert M; González-Serna, David D; Martín, Javier J
Publication Date: 2019-06-10

Variant appearance in text: rs17602729
PubMed Link: 31185701
Variant Present in the following documents:
  • Main text
  • jcm-08-00826.pdf
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: AMPD1: Q45X; rs17602729
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
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: AMPD1: Q45X; rs17602729
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
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Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP.

Frontiers In Pharmacology
Johnson, Todd A TA; Jinnah, H A HA; Kamatani, Naoyuki N
Publication Date: 2019

Variant appearance in text: AMPD1: Gln45Ter; rs17602729
PubMed Link: 30837873
Variant Present in the following documents:
  • Main text
  • fphar-10-00098.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs17602729
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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Polygenic Study of Endurance-Associated Genetic Markers NOS3 (Glu298Asp), BDKRB2 (-9/+9), UCP2 (Ala55Val), AMPD1 (Gln45Ter) and ACE (I/D) in Polish Male Half Marathoners.

Journal Of Human Kinetics
Gronek, Piotr P; Gronek, Joanna J; Lulińska-Kuklik, Ewelina E; Spieszny, Michał M; Niewczas, Marta M; Kaczmarczyk, Mariusz M; Petr, Miroslav M; Fischerova, Patricia P; Ahmetov, Ildus I II; Żmijewski, Piotr P
Publication Date: 2018-09

Variant appearance in text: AMPD1: Gln45Ter; rs17602729
PubMed Link: 30429902
Variant Present in the following documents:
  • Main text
  • hukin-64-087.pdf
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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: AMPD1: Q45X; rs17602729
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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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: AMPD1: 133C>T; rs17602729
PubMed Link: 30026549
Variant Present in the following documents:
  • 41598_2018_29279_MOESM1_ESM.pdf
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Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1 and IGF2 on Soccer Player Injury Occurrence.

Sports (Basel, Switzerland)
McCabe, Kiah K; Collins, Christopher C
Publication Date: 2018-03-05

Variant appearance in text: rs17602729
PubMed Link: 29910325
Variant Present in the following documents:
  • Main text
View BVdb publication page