Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
Urolithiasis
Ali, Fahmy T FT; El-Azeem, Eman M Abd EMA; Hekal, Hala F A HFA; El-Gizawy, Mayada M MM; Sayed, Mohamed S MS; Mandoh, AbdAllah Y AY; Soliman, Ahmed F AF
Publication Date: 2022-12
Variant appearance in text: CASR: A986S; rs1801725
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nature Communications
Young, William J WJ; Lahrouchi, Najim N; Isaacs, Aaron A; Duong, ThuyVy T; Foco, Luisa L; Ahmed, Farah F; Brody, Jennifer A JA; Salman, Reem R; Noordam, Raymond R; Benjamins, Jan-Walter JW; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Repetto, Linda L; Concas, Maria Pina MP; van den Berg, Marten E ME; Weiss, Stefan S; Baldassari, Antoine R AR; Bartz, Traci M TM; Cook, James P JP; Evans, Daniel S DS; Freudling, Rebecca R; Hines, Oliver O; Isaksen, Jonas L JL; Lin, Honghuang H; Mei, Hao H; Moscati, Arden A; Müller-Nurasyid, Martina M; Nursyifa, Casia C; Qian, Yong Y; Richmond, Anne A; Roselli, Carolina C; Ryan, Kathleen A KA; Tarazona-Santos, Eduardo E; Thériault, Sébastien S; van Duijvenboden, Stefan S; Warren, Helen R HR; Yao, Jie J; Raza, Dania D; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Alonso, Alvaro A; Andreasen, Laura L; Bis, Joshua C JC; Boerwinkle, Eric E; Campbell, Archie A; Catamo, Eulalia E; Cocca, Massimiliano M; Cutler, Michael J MJ; Darbar, Dawood D; De Grandi, Alessandro A; De Luca, Antonio A; Ding, Jun J; Ellervik, Christina C; Ellinor, Patrick T PT; Felix, Stephan B SB; Froguel, Philippe P; Fuchsberger, Christian C; Gögele, Martin M; Graff, Claus C; Graff, Mariaelisa M; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Huang, Paul L PL; Huikuri, Heikki V HV; Hutri-Kähönen, Nina N; Ikram, M Arfan MA; Jackson, Rebecca D RD; Junttila, Juhani J; Kavousi, Maryam M; Kors, Jan A JA; Leal, Thiago P TP; Lemaitre, Rozenn N RN; Lin, Henry J HJ; Lind, Lars L; Linneberg, Allan A; Liu, Simin S; MacFarlane, Peter W PW; Mangino, Massimo M; Meitinger, Thomas T; Mezzavilla, Massimo M; Mishra, Pashupati P PP; Mitchell, Rebecca N RN; Mononen, Nina N; Montasser, May E ME; Morrison, Alanna C AC; Nauck, Matthias M; Nauffal, Victor V; Navarro, Pau P; Nikus, Kjell K; Pare, Guillaume G; Patton, Kristen K KK; Pelliccione, Giulia G; Pittman, Alan A; Porteous, David J DJ; Pramstaller, Peter P PP; Preuss, Michael H MH; Raitakari, Olli T OT; Reiner, Alexander P AP; Ribeiro, Antonio Luiz P ALP; Rice, Kenneth M KM; Risch, Lorenz L; Schlessinger, David D; Schotten, Ulrich U; Schurmann, Claudia C; Shen, Xia X; Shoemaker, M Benjamin MB; Sinagra, Gianfranco G; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Stoll, Monika M; Strauch, Konstantin K; Tarasov, Kirill K; Taylor, Kent D KD; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Weng, Lu-Chen LC; Whitsel, Eric A EA; Wilson, James G JG; Avery, Christy L CL; Conen, David D; Correa, Adolfo A; Cucca, Francesco F; Dörr, Marcus M; Gharib, Sina A SA; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jamshidi, Yalda Y; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lima-Costa, Maria Fernanda MF; Liu, Yongmei Y; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; O'Connell, Jeffrey R JR; Olesen, Morten Salling MS; Orini, Michele M; Padmanabhan, Sandosh S; Pattaro, Cristian C; Peters, Annette A; Psaty, Bruce M BM; Rotter, Jerome I JI; Stricker, Bruno B; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James F JF; Arking, Dan E DE; Ramirez, Julia J; Lambiase, Pier D PD; Sotoodehnia, Nona N; Mifsud, Borbala B; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Publication Date: 2022-09-01
Variant appearance in text: CASR: 2956G>T; Ala986Ser; rs1801725
Interactions between Vitamin D Genetic Risk and Dietary Factors on Metabolic Disease-Related Outcomes in Ghanaian Adults.
Nutrients
Alathari, Buthaina E BE; Nyakotey, David A DA; Bawah, Abdul-Malik AM; Lovegrove, Julie A JA; Annan, Reginald A RA; Ellahi, Basma B; Vimaleswaran, Karani S KS
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: CASR: 2956G>T; rs1801725
Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer.
Frontiers In Endocrinology
Beasley, Heather K HK; Widatalla, Sarrah E SE; Whalen, Diva S DS; Williams, Stephen D SD; Korolkova, Olga Y OY; Namba, Clementine C; Pratap, Siddharth S; Ochieng, Josiah J; Sakwe, Amos M AM
Publication Date: 2022
Variant appearance in text: CASR: A986S; rs1801725
The impact of serum 25-hydroxyvitamin D, calcium, and parathyroid hormone levels on the risk of coronary artery disease in patients with diabetes: a Mendelian randomization study.
Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population.
Frontiers In Genetics
Litvinova, Maria M MM; Khafizov, Kamil K; Korchagin, Vitaly I VI; Speranskaya, Anna S AS; Asanov, Aliy Yu AY; Matsvay, Alina D AD; Kiselev, Daniil A DA; Svetlichnaya, Diana V DV; Nuralieva, Sevda Z SZ; Moskalev, Alexey A AA; Filippova, Tamara V TV
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: CASR: 2956G>T; A986S; rs1801725
Interaction between Vitamin D-Related Genetic Risk Score and Carbohydrate Intake on Body Fat Composition: A Study in Southeast Asian Minangkabau Women.
Nutrients
Alathari, Buthaina E BE; Aji, Arif Sabta AS; Ariyasra, Utami U; Sari, Sri R SR; Tasrif, Nabila N; Yani, Finny F FF; Sudji, Ikhwan R IR; Lovegrove, Julie A JA; Lipoeto, Nur I NI; Vimaleswaran, Karani S KS
Improving the odds of drug development success through human genomics: modelling study.
Scientific Reports
Hingorani, Aroon D AD; Kuan, Valerie V; Finan, Chris C; Kruger, Felix A FA; Gaulton, Anna A; Chopade, Sandesh S; Sofat, Reecha R; MacAllister, Raymond J RJ; Overington, John P JP; Hemingway, Harry H; Denaxas, Spiros S; Prieto, David D; Casas, Juan Pablo JP
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: CASR: A986S; rs1801725
Genetic predisposition to increased serum calcium, bone mineral density, and fracture risk in individuals with normal calcium levels: mendelian randomisation study.
Bmj (Clinical Research Ed.)
Cerani, Agustin A; Zhou, Sirui S; Forgetta, Vincenzo V; Morris, John A JA; Trajanoska, Katerina K; Rivadeneira, Fernando F; Larsson, Susanna C SC; Michaëlsson, Karl K; Richards, J Brent JB
Association of maternal circulating 25(OH)D and calcium with birth weight: A mendelian randomisation analysis.
Plos Medicine
Thompson, William D WD; Tyrrell, Jessica J; Borges, Maria-Carolina MC; Beaumont, Robin N RN; Knight, Bridget A BA; Wood, Andrew R AR; Ring, Susan M SM; Hattersley, Andrew T AT; Freathy, Rachel M RM; Lawlor, Debbie A DA
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: CASR: A986S; rs1801725
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