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
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: TLR6: 1263A>G; K421K; rs3775073
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: TLR6: K421K; rs3775073
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.
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.
International Journal Of Molecular Sciences
Ponasenko, Anastasia V AV; Khutornaya, Maria V MV; Kutikhin, Anton G AG; Rutkovskaya, Natalia V NV; Tsepokina, Anna V AV; Kondyukova, Natalia V NV; Yuzhalin, Arseniy E AE; Barbarash, Leonid S LS
Publication Date: 2016-08-31
Variant appearance in text: TLR6: Lys421Lys; rs3775073
Association of TLR and TREM-1 gene polymorphisms with atherosclerosis severity in a Russian population.
Meta Gene
Kutikhin, Anton G AG; Ponasenko, Anastasia V AV; Khutornaya, Maria V MV; Yuzhalin, Arseniy E AE; Zhidkova, Irina I II; Salakhov, Ramil R RR; Golovkin, Alexey S AS; Barbarash, Olga L OL; Barbarash, Leonid S LS
Publication Date: 2016-09
Variant appearance in text: TLR6: Lys421Lys; rs3775073
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: TLR6: K421K; rs3775073
Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data.
Plos One
Baker, Allison R AR; Qiu, Feiyou F; Randhawa, April Kaur AK; Horne, David J DJ; Adams, Mark D MD; Shey, Muki M; Barnholtz-Sloan, Jill J; Mayanja-Kizza, Harriet H; Kaplan, Gilla G; Hanekom, Willem A WA; Boom, W Henry WH; Hawn, Thomas R TR; Stein, Catherine M CM; ,
Publication Date: 2012
Variant appearance in text: TLR6: K421K; rs3775073