Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia.
Genes
Refisch, Alexander A; Komatsuzaki, Shoko S; Ungelenk, Martin M; Schumann, Andy A; Chung, Ha-Yeun HY; Schilling, Susann S SS; Jantzen, Wibke W; Schröder, Sabine S; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Hübner, Christian A CA; Bär, Karl-Jürgen KJ
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Cell Reports Methods
Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP
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
Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.
The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01
Variant appearance in text: KCNH2: 1539C>T; Phe513=; rs1805120
Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.
Human Molecular Genetics
van Duijvenboden, Stefan S; Ramírez, Julia J; Young, William J WJ; Orini, Michele M; Mifsud, Borbala B; Tinker, Andrew A; Lambiase, Pier D PD; Munroe, Patricia B PB
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: KCNH2: 1539C>T; F513F; rs1805120
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Stem Cell Reports
Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP
Publication Date: 2020-11-10
Variant appearance in text: KCNH2: 1539C>T; Phe513Phe; rs1805120
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: KCNH2: F513F; rs1805120
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.
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Bmc Medical Genetics
Nishimura, Motoi M; Ueda, Marehiko M; Ebata, Ryota R; Utsuno, Emi E; Ishii, Takuma T; Matsushita, Kazuyuki K; Ohara, Osamu O; Shimojo, Naoki N; Kobayashi, Yoshio Y; Nomura, Fumio F
Publication Date: 2017-06-08
Variant appearance in text: KCNH2: 1539C>T; Phe513=
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: KCNH2: F513F; rs1805120
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
Annals Of Human Genetics
Jeff, Janina M JM; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Ramirez, Andrea H AH; Crosslin, David D; Armstrong, Loren L; Basford, Melissa A MA; Wolf, Wendy A WA; Pacheco, Jennifer A JA; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
Fine-mapping and initial characterization of QT interval loci in African Americans.
Plos Genetics
Avery, Christy L CL; Sethupathy, Praveen P; Buyske, Steven S; He, Qianchuan Q; Lin, Dan-Yu DY; Arking, Dan E DE; Carty, Cara L CL; Duggan, David D; Fesinmeyer, Megan D MD; Hindorff, Lucia A LA; Jeff, Janina M JM; Klein, Liviu L; Patton, Kristen K KK; Peters, Ulrike U; Shohet, Ralph V RV; Sotoodehnia, Nona N; Young, Alicia M AM; Kooperberg, Charles C; Haiman, Christopher A CA; Mohlke, Karen L KL; Whitsel, Eric A EA; North, Kari E KE
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.
Heart Rhythm
Bartos, Daniel C DC; Duchatelet, Sabine S; Burgess, Don E DE; Klug, Didier D; Denjoy, Isabelle I; Peat, Rachel R; Lupoglazoff, Jean-Marc JM; Fressart, Véronique V; Berthet, Myriam M; Ackerman, Michael J MJ; January, Craig T CT; Guicheney, Pascale P; Delisle, Brian P BP