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
Increase of Neutrophil Activation Markers in Venous Thrombosis-Contribution of Circulating Activated Protein C.
International Journal Of Molecular Sciences
Martos, Laura L; Oto, Julia J; Fernández-Pardo, Álvaro Á; Plana, Emma E; Solmoirago, María José MJ; Cana, Fernando F; Hervás, David D; Bonanad, Santiago S; Ferrando, Fernando F; España, Francisco F; Navarro, Silvia S; Medina, Pilar P
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
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
Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.
Plos One
Cole, John W JW; Xu, Huichun H; Ryan, Kathleen K; Jaworek, Thomas T; Dueker, Nicole N; McArdle, Patrick P; Gaynor, Brady B; Cheng, Yu-Ching YC; O'Connell, Jeffrey J; Bevan, Steve S; Malik, Rainer R; Ahmed, Naveed Uddin NU; Amouyel, Philippe P; Anjum, Sheraz S; Bis, Joshua C JC; Crosslin, David D; Danesh, John J; Engelter, Stefan T ST; Fornage, Myriam M; Frossard, Philippe P; Gieger, Christian C; Giese, Anne-Katrin AK; Grond-Ginsbach, Caspar C; Ho, Weang Kee WK; Holliday, Elizabeth E; Hopewell, Jemma J; Hussain, M M; Iqbal, W W; Jabeen, S S; Jannes, Jim J; Kamal, Ayeesha A; Kamatani, Yoichiro Y; Kanse, Sandip S; Kloss, Manja M; Lathrop, Mark M; Leys, Didier D; Lindgren, Arne A; Longstreth, W T WT; Mahmood, Khalid K; Meisinger, Christa C; Metso, Tiina M TM; Mosley, Thomas T; Müller-Nurasyid, Martina M; Norrving, Bo B; Parati, Eugenio E; Peters, Annette A; Pezzini, Alessandro A; Quereshi, I I; Rasheed, Asif A; Rauf, A A; Salam, T T; Shen, Jess J; Słowik, Agnieszka A; Stanne, Tara T; Strauch, Konstantin K; Tatlisumak, Turgut T; Thijs, Vincent N VN; Tiedt, Steffen S; Traylor, Matthew M; Waldenberger, Melanie M; Walters, Matthew M; Zhao, Wei W; Boncoraglio, Giorgio G; Debette, Stéphanie S; Jern, Christina C; Levi, Christopher C; Markus, Hugh H; Meschia, James J; Rolfs, Arndt A; Rothwell, Peter P; Saleheen, Danish D; Seshadri, Sudha S; Sharma, Pankaj P; Sudlow, Cathie C; Worrall, Bradford B; , ; , ; Stine, O Colin OC; Kittner, Steven J SJ; Mitchell, Braxton D BD
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 endothelial protein C receptor rs867186-GG genotype is associated with increased soluble EPCR and could mediate protection against severe malaria.
Scientific Reports
Shabani, Estela E; Opoka, Robert O RO; Bangirana, Paul P; Park, Gregory S GS; Vercellotti, Gregory M GM; Guan, Weihua W; Hodges, James S JS; Lavstsen, Thomas T; John, Chandy C CC
Association of common genetic variation in the protein C pathway genes with clinical outcomes in acute respiratory distress syndrome.
Critical Care (London, England)
Sapru, Anil A; Liu, Kathleen D KD; Wiemels, Joseph J; Hansen, Helen H; Pawlikowska, Ludmilla L; Poon, Annie A; Jorgenson, Eric E; Witte, John S JS; Calfee, Carolyn S CS; Ware, Lorraine B LB; Matthay, Michael A MA; ,
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
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