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
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
Epione application: An integrated web‑toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus.
International Journal Of Molecular Medicine
Papageorgiou, Louis L; Alkenaris, Haris H; Zervou, Maria I MI; Vlachakis, Dimitriοs D; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Bertsias, George G; Goulielmos, George N GN; Eliopoulos, Elias E
Apremilast Pharmacogenomics in Russian Patients with Moderate-to-Severe and Severe Psoriasis.
Journal Of Personalized Medicine
Verbenko, Dmitry A DA; Karamova, Arfenya E AE; Artamonova, Olga G OG; Deryabin, Dmitry G DG; Rakitko, Alexander A; Chernitsov, Alexandr A; Krasnenko, Anna A; Elmuratov, Artem A; Solomka, Victoria S VS; Kubanov, Alexey A AA
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
Publication Date: 2019-02-27
Variant appearance in text: TYK2: 1669+7T>C; rs280519
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04
Variant appearance in text: TYK2: 1669+7T>C; rs280519
Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma.
Lupus Science & Medicine
Bernatsky, Sasha S; Velásquez García, Héctor A HA; Spinelli, John J JJ; Gaffney, Patrick P; Smedby, Karin E KE; Ramsey-Goldman, Rosalind R; Wang, Sophia S SS; Adami, Hans-Olov HO; Albanes, Demetrius D; Angelucci, Emanuele E; Ansell, Stephen M SM; Asmann, Yan W YW; Becker, Nikolaus N; Benavente, Yolanda Y; Berndt, Sonja I SI; Bertrand, Kimberly A KA; Birmann, Brenda M BM; Boeing, Heiner H; Boffetta, Paolo P; Bracci, Paige M PM; Brennan, Paul P; Brooks-Wilson, Angela R AR; Cerhan, James R JR; Chanock, Stephen J SJ; Clavel, Jacqueline J; Conde, Lucia L; Cotenbader, Karen H KH; Cox, David G DG; Cozen, Wendy W; Crouch, Simon S; De Roos, Anneclaire J AJ; de Sanjose, Silvia S; Di Lollo, Simonetta S; Diver, W Ryan WR; Dogan, Ahmet A; Foretova, Lenka L; Ghesquières, Hervé H; Giles, Graham G GG; Glimelius, Bengt B; Habermann, Thomas M TM; Haioun, Corinne C; Hartge, Patricia P; Hjalgrim, Henrik H; Holford, Theodore R TR; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Kaaks, Rudolph R; Kane, Eleanor E; Kelly, Rachel S RS; Klein, Robert J RJ; Kraft, Peter P; Kricker, Anne A; Lan, Qing Q; Lawrence, Charles C; Liebow, Mark M; Lightfoot, Tracy T; Link, Brian K BK; Maynadie, Marc M; McKay, James J; Melbye, Mads M; Molina, Thierry J TJ; Monnereau, Alain A; Morton, Lindsay M LM; Nieters, Alexandra A; North, Kari E KE; Novak, Anne J AJ; Offit, Kenneth K; Purdue, Mark P MP; Rais, Marco M; Riby, Jacques J; Roman, Eve E; Rothman, Nathaniel N; Salles, Gilles G; Severi, Gianluca G; Severson, Richard K RK; Skibola, Christine F CF; Slager, Susan L SL; Smith, Alex A; Smith, Martyn T MT; Southey, Melissa C MC; Staines, Anthony A; Teras, Lauren R LR; Thompson, Carrie A CA; Tilly, Hervé H; Tinker, Lesley F LF; Tjonneland, Anne A; Turner, Jenny J; Vajdic, Claire M CM; Vermeulen, Roel C H RCH; Vijai, Joseph J; Vineis, Paolo P; Virtamo, Jarmo J; Wang, Zhaoming Z; Weinstein, Stephanie S; Witzig, Thomas E TE; Zelenetz, Andrew A; Zeleniuch-Jacquotte, Anne A; Zhang, Yawei Y; Zheng, Tongzhang T; Zucca, Mariagrazia M; Clarke, Ann E AE
Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis.
Rmd Open
Juge, Pierre-Antoine PA; Gazal, Steven S; Constantin, Arnaud A; Mariette, Xavier X; Combe, Bernard B; Tebib, Jacques J; Dougados, Maxime M; Sibilia, Jean J; Le Loet, Xavier X; Dieudé, Philippe P
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Human Molecular Genetics
Dand, Nick N; Mucha, Sören S; Tsoi, Lam C LC; Mahil, Satveer K SK; Stuart, Philip E PE; Arnold, Andreas A; Baurecht, Hansjörg H; Burden, A David AD; Callis Duffin, Kristina K; Chandran, Vinod V; Curtis, Charles J CJ; Das, Sayantan S; Ellinghaus, David D; Ellinghaus, Eva E; Enerback, Charlotta C; Esko, Tõnu T; Gladman, Dafna D DD; Griffiths, Christopher E M CEM; Gudjonsson, Johann E JE; Hoffman, Per P; Homuth, Georg G; Hüffmeier, Ulrike U; Krueger, Gerald G GG; Laudes, Matthias M; Lee, Sang Hyuck SH; Lieb, Wolfgang W; Lim, Henry W HW; Löhr, Sabine S; Mrowietz, Ulrich U; Müller-Nurayid, Martina M; Nöthen, Markus M; Peters, Annette A; Rahman, Proton P; Reis, André A; Reynolds, Nick J NJ; Rodriguez, Elke E; Schmidt, Carsten O CO; Spain, Sarah L SL; Strauch, Konstantin K; Tejasvi, Trilokraj T; Voorhees, John J JJ; Warren, Richard B RB; Weichenthal, Michael M; Weidinger, Stephan S; Zawistowski, Matthew M; Nair, Rajan P RP; Capon, Francesca F; Smith, Catherine H CH; Trembath, Richard C RC; Abecasis, Goncalo R GR; Elder, James T JT; Franke, Andre A; Simpson, Michael A MA; Barker, Jonathan N JN
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Arthritis & Rheumatology (Hoboken, N.J.)
Demirkaya, Erkan E; Zhou, Qing Q; Smith, Carolyne K CK; Ombrello, Michael J MJ; Deuitch, Natalie N; Tsai, Wanxia L WL; Hoffmann, Patrycja P; Remmers, Elaine F EF; Takeuchi, Masaki M; Park, Yong Hwan YH; Chae, JaeJin J; Barut, Kenan K; Simsek, Dogan D; Adrovic, Amra A; Sahin, Sezgin S; Caliskan, Salim S; Chandrasekharappa, Settara C SC; Hasni, Sarfaraz A SA; Ombrello, Amanda K AK; Gadina, Massimo M; Kastner, Daniel L DL; Kaplan, Mariana J MJ; Kasapcopur, Ozgur O; Aksentijevich, Ivona I
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14
Variant appearance in text: TYK2: 1669+7T>C; rs280519
Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.
Plos One
Barøy, Tale T; Chilamakuri, Chandra S R CS; Lorenz, Susanne S; Sun, Jinchang J; Bruland, Øyvind S ØS; Myklebost, Ola O; Meza-Zepeda, Leonardo A LA
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
American Journal Of Human Genetics
Baurecht, Hansjörg H; Hotze, Melanie M; Brand, Stephan S; Büning, Carsten C; Cormican, Paul P; Corvin, Aiden A; Ellinghaus, David D; Ellinghaus, Eva E; Esparza-Gordillo, Jorge J; Fölster-Holst, Regina R; Franke, Andre A; Gieger, Christian C; Hubner, Norbert N; Illig, Thomas T; Irvine, Alan D AD; Kabesch, Michael M; Lee, Young A E YA; Lieb, Wolfgang W; Marenholz, Ingo I; McLean, W H Irwin WH; Morris, Derek W DW; Mrowietz, Ulrich U; Nair, Rajan R; Nöthen, Markus M MM; Novak, Natalija N; O'Regan, Grainne M GM; , ; Schreiber, Stefan S; Smith, Catherine C; Strauch, Konstantin K; Stuart, Philip E PE; Trembath, Richard R; Tsoi, Lam C LC; Weichenthal, Michael M; Barker, Jonathan J; Elder, James T JT; Weidinger, Stephan S; Cordell, Heather J HJ; Brown, Sara J SJ
Cellular adhesion gene SELP is associated with rheumatoid arthritis and displays differential allelic expression.
Plos One
Burkhardt, Jana J; Blume, Mechthild M; Petit-Teixeira, Elisabeth E; Hugo Teixeira, Vitor V; Steiner, Anke A; Quente, Elfi E; Wolfram, Grit G; Scholz, Markus M; Pierlot, Céline C; Migliorini, Paola P; Bombardieri, Stefano S; Balsa, Alejandro A; Westhovens, René R; Barrera, Pilar P; Radstake, Timothy R D J TR; Alves, Helena H; Bardin, Thomas T; Prum, Bernard B; Emmrich, Frank F; Cornelis, François F; Ahnert, Peter P; Kirsten, Holger H
Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study.
Breast Cancer Research And Treatment
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa M LM; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Stern, Mariana C MC; John, Esther M EM
Univariation and multiple linear regression analyses for 23 single nucleotide polymorphisms in 14 chronic glomerular disease's predisposing genes and systemic lupus erythematosus in Han Chinese.
Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
The role of 39 psoriasis risk variants on age of psoriasis onset.
Isrn Dermatology
Lu, Yingchang Y; Kane, Sinae S; Chen, Haoyan H; Leon, Argentina A; Levin, Ethan E; Nguyen, Tien T; Debbaneh, Maya M; Millsop, Jillian W JW; Gupta, Rishu R; Huynh, Monica M; Butler, Daniel D; Cordoro, Kelly K; Liao, Wilson W
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Genetics of SLE: functional relevance for monocytes/macrophages in disease.
Clinical & Developmental Immunology
Byrne, Jennifer C JC; Ní Gabhann, Joan J; Lazzari, Elisa E; Mahony, Rebecca R; Smith, Siobhán S; Stacey, Kevin K; Wynne, Claire C; Jefferies, Caroline A CA
Oosterveer, Daniëlla M DM; Versmissen, Jorie J; Defesche, Joep C JC; Sivapalaratnam, Suthesh S; Yazdanpanah, Mojgan M; Mulder, Monique M; van der Zee, Leonie L; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Hofman, Albert A; Kastelein, John J P JJ; Aulchenko, Yurii S YS; Sijbrands, Eric J G EJ
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Nature Genetics
Liu, Jimmy Z JZ; Almarri, Mohamed A MA; Gaffney, Daniel J DJ; Mells, George F GF; Jostins, Luke L; Cordell, Heather J HJ; Ducker, Samantha J SJ; Day, Darren B DB; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Bathgate, Andrew J AJ; Burroughs, Andrew A; Davies, Mervyn H MH; Jones, David E DE; Alexander, Graeme J GJ; Barrett, Jeffrey C JC; Sandford, Richard N RN; Anderson, Carl A CA; , ; ,
Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.
Plos Genetics
Cunninghame Graham, Deborah S DS; Morris, David L DL; Bhangale, Tushar R TR; Criswell, Lindsey A LA; Syvänen, Ann-Christine AC; Rönnblom, Lars L; Behrens, Timothy W TW; Graham, Robert R RR; Vyse, Timothy J TJ