Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
The relationship between glucose and the liver-alpha cell axis - A systematic review.
Frontiers In Endocrinology
Pixner, Thomas T; Stummer, Nathalie N; Schneider, Anna Maria AM; Lukas, Andreas A; Gramlinger, Karin K; Julian, Valérie V; Thivel, David D; Mörwald, Katharina K; Mangge, Harald H; Dalus, Christopher C; Aigner, Elmar E; Furthner, Dieter D; Weghuber, Daniel D; Maruszczak, Katharina K
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
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Human Molecular Genetics
Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM
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
Amateur Athlete with Sinus Arrest and Severe Bradycardia Diagnosed through a Heart Rate Monitor: A Six-Year Observation-The Necessity of Shared Decision-Making in Heart Rhythm Therapy Management.
International Journal Of Environmental Research And Public Health
Gajda, Robert R; Knechtle, Beat B; Gębska-Kuczerowska, Anita A; Gajda, Jacek J; Stec, Sebastian S; Krych, Michalina M; Kwaśniewska, Magdalena M; Drygas, Wojciech W
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Genes
Zaklyazminskaya, Elena E; Polyak, Margarita M; Shestak, Anna A; Sadekova, Mariam M; Komoliatova, Vera V; Kiseleva, Irina I; Makarov, Leonid L; Podolyak, Dmitriy D; Glukhov, Grigory G; Zhang, Han H; Abramochkin, Denis D; Sokolova, Olga S OS
The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.
Frontiers In Physiology
van den Brink, Lettine L; Brandão, Karina O KO; Yiangou, Loukia L; Blanch-Asensio, Albert A; Mol, Mervyn P H MPH; Mummery, Christine L CL; Verkerk, Arie O AO; Davis, Richard P RP
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.
Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17
Variant appearance in text: KCNH2: K897T; rs1805123
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: KCNH2: 2690A>C; K897T; rs1805123
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: 2690A>C; Lys897Thr; rs1805123
hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells.
Cells
Shah, Disheet D; Prajapati, Chandra C; Penttinen, Kirsi K; Cherian, Reeja Maria RM; Koivumäki, Jussi T JT; Alexanova, Anna A; Hyttinen, Jari J; Aalto-Setälä, Katriina K
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.
Molecular Genetics & Genomic Medicine
Tung, Matthew M; Van Petegem, Filip F; Lauson, Samantha S; Collier, Ashley A; Hodgkinson, Kathy K; Fernandez, Bridget B; Connors, Sean S; Leather, Rick R; Sanatani, Shubhayan S; Arbour, Laura L
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.
Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
Nucleic Acids Research
Renaux, Alexandre A; Papadimitriou, Sofia S; Versbraegen, Nassim N; Nachtegael, Charlotte C; Boutry, Simon S; Nowé, Ann A; Smits, Guillaume G; Lenaerts, Tom T
Characterization of Plasma Membrane Localization and Phosphorylation Status of Organic Anion Transporting Polypeptide (OATP) 1B1 c.521 T>C Nonsynonymous Single-Nucleotide Polymorphism.
Pharmaceutical Research
Crowe, Alexandra A; Zheng, Wei W; Miller, Jonathan J; Pahwa, Sonia S; Alam, Khondoker K; Fung, Kar-Ming KM; Rubin, Erin E; Yin, Feng F; Ding, Kai K; Yue, Wei W
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
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
Publication Date: 2019-02-27
Variant appearance in text: KCNH2: 2690A>C; rs1805123
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM