Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway and Their Relationship with High Blood Pressure Risk.
International Journal Of Molecular Sciences
Rojo-Tolosa, Susana S; Márquez-Pete, Noelia N; Gálvez-Navas, José María JM; Pineda-Lancheros, Laura Elena LE; Fernández-Alonso, Andrea A; Membrive-Jiménez, Cristina C; Ramírez-Tortosa, María Carmen MC; Pérez-Ramírez, Cristina C; Jiménez-Morales, Alberto A
Effect of Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway on Susceptibility to Non-Small-Cell Lung Cancer.
Nutrients
Pineda Lancheros, Laura Elena LE; Rojo Tolosa, Susana S; Gálvez Navas, José María JM; Martínez Martínez, Fernando F; Sánchez Martín, Almudena A; Jiménez Morales, Alberto A; Pérez Ramírez, Cristina C
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: CYP24A1: T248T; rs6068816
Impact of Genetic Polymorphisms on the Metabolic Pathway of Vitamin D and Survival in Non-Small Cell Lung Cancer.
Nutrients
Pineda Lancheros, Laura Elena LE; Pérez Ramírez, Cristina C; Sánchez Martín, Almudena A; Gálvez Navas, José María JM; Martínez Martínez, Fernando F; Ramírez Tortosa, María Del Carmen MDC; Jiménez Morales, Alberto A
Genetic Polymorphism of Vitamin D Family Genes CYP2R1, CYP24A1, and CYP27B1 Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study.
Frontiers In Genetics
Wang, Minxian M; Zhang, Ru R; Wang, Min M; Zhang, Liuxin L; Ding, Yajie Y; Tang, Zongzhe Z; Wang, Hongliang H; Zhang, Wei W; Chen, Yue Y; Wang, Jie J
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: CYP24A1: 744G>A; T248T; rs6068816
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: CYP24A1: T248T; rs6068816
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Vitamin D-related gene polymorphisms, plasma 25-hydroxyvitamin D, and breast cancer risk.
Cancer Causes & Control : Ccc
Reimers, Laura L LL; Crew, Katherine D KD; Bradshaw, Patrick T PT; Santella, Regina M RM; Steck, Susan E SE; Sirosh, Iryna I; Terry, Mary Beth MB; Hershman, Dawn L DL; Shane, Elizabeth E; Cremers, Serge S; Dworakowski, Elzbieta E; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Gammon, Marilie D MD
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: CYP24A1: T248T; rs6068816
A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer.
Cancer Chemotherapy And Pharmacology
Ramnath, N N; Daignault-Newton, S S; Dy, G K GK; Muindi, J R JR; Adjei, A A; Elingrod, V L VL; Kalemkerian, G P GP; Cease, K B KB; Stella, P J PJ; Brenner, D E DE; Troeschel, S S; Johnson, C S CS; Trump, D L DL