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
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
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
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
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
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
Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.
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
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
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
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
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
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
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
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
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
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
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
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
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
Are gene polymorphisms related to adverse events of methotrexate in patients with rheumatoid arthritis? A retrospective cohort study based on an updated meta-analysis.
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
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
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
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
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
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
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
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
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
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