Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: PKN2: 1677T>C; Ser559=
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
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
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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: PKN2: 1677T>C; Ser559Ser; rs786906
New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.
Circulation. Cardiovascular Genetics
Kraja, Aldi T AT; Cook, James P JP; Warren, Helen R HR; Surendran, Praveen P; Liu, Chunyu C; Evangelou, Evangelos E; Manning, Alisa K AK; Grarup, Niels N; Drenos, Fotios F; Sim, Xueling X; Smith, Albert Vernon AV; Amin, Najaf N; Blakemore, Alexandra I F AIF; Bork-Jensen, Jette J; Brandslund, Ivan I; Farmaki, Aliki-Eleni AE; Fava, Cristiano C; Ferreira, Teresa T; Herzig, Karl-Heinz KH; Giri, Ayush A; Giulianini, Franco F; Grove, Megan L ML; Guo, Xiuqing X; Harris, Sarah E SE; Have, Christian T CT; Havulinna, Aki S AS; Zhang, He H; Jørgensen, Marit E ME; Käräjämäki, AnneMari A; Kooperberg, Charles C; Linneberg, Allan A; Little, Louis L; Liu, Yongmei Y; Bonnycastle, Lori L LL; Lu, Yingchang Y; Mägi, Reedik R; Mahajan, Anubha A; Malerba, Giovanni G; Marioni, Riccardo E RE; Mei, Hao H; Menni, Cristina C; Morrison, Alanna C AC; Padmanabhan, Sandosh S; Palmas, Walter W; Poveda, Alaitz A; Rauramaa, Rainer R; Rayner, Nigel William NW; Riaz, Muhammad M; Rice, Ken K; Richard, Melissa A MA; Smith, Jennifer A JA; Southam, Lorraine L; Stančáková, Alena A; Stirrups, Kathleen E KE; Tragante, Vinicius V; Tuomi, Tiinamaija T; Tzoulaki, Ioanna I; Varga, Tibor V TV; Weiss, Stefan S; Yiorkas, Andrianos M AM; Young, Robin R; Zhang, Weihua W; Barnes, Michael R MR; Cabrera, Claudia P CP; Gao, He H; Boehnke, Michael M; Boerwinkle, Eric E; Chambers, John C JC; Connell, John M JM; Christensen, Cramer K CK; de Boer, Rudolf A RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Dominiczak, Anna F AF; Dörr, Marcus M; Joehanes, Roby R; Edwards, Todd L TL; Esko, Tõnu T; Fornage, Myriam M; Franceschini, Nora N; Franks, Paul W PW; Gambaro, Giovanni G; Groop, Leif L; Hallmans, Göran G; Hansen, Torben T; Hayward, Caroline C; Heikki, Oksa O; Ingelsson, Erik E; Tuomilehto, Jaakko J; Jarvelin, Marjo-Riitta MR; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kooner, Jaspal S JS; Lakka, Timo A TA; Langenberg, Claudia C; Lind, Lars L; Loos, Ruth J F RJF; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Morris, Andrew P AP; Palmer, Colin N A CNA; Pedersen, Oluf O; Polasek, Ozren O; Poulter, Neil R NR; Province, Michael A MA; Psaty, Bruce M BM; Ridker, Paul M PM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sever, Peter J PJ; Skaaby, Tea T; Stafford, Jeanette M JM; Starr, John M JM; van der Harst, Pim P; van der Meer, Peter P; , ; van Duijn, Cornelia M CM; Vergnaud, Anne-Claire AC; Gudnason, Vilmundur V; Wareham, Nicholas J NJ; Wilson, James G JG; Willer, Cristen J CJ; Witte, Daniel R DR; Zeggini, Eleftheria E; Saleheen, Danish D; Butterworth, Adam S AS; Danesh, John J; Asselbergs, Folkert W FW; Wain, Louise V LV; Ehret, Georg B GB; Chasman, Daniel I DI; Caulfield, Mark J MJ; Elliott, Paul P; Lindgren, Cecilia M CM; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM; ,
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Type 2 diabetes (T2D) associated polymorphisms regulate expression of adjacent transcripts in transformed lymphocytes, adipose, and muscle from Caucasian and African-American subjects.
The Journal Of Clinical Endocrinology And Metabolism
Sharma, Neeraj K NK; Langberg, Kurt A KA; Mondal, Ashis K AK; Elbein, Steven C SC; Das, Swapan K SK