The genetic regulation of protein expression in cerebrospinal fluid.
Embo Molecular Medicine
Hansson, Oskar O; Kumar, Atul A; Janelidze, Shorena S; Stomrud, Erik E; Insel, Philip S PS; Blennow, Kaj K; Zetterberg, Henrik H; Fauman, Eric E; Hedman, Åsa K ÅK; Nagle, Michael W MW; Whelan, Christopher D CD; Baird, Denis D; Mälarstig, Anders A; Mattsson-Carlgren, Niklas N
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
Publication Date: 2022-10-14
Variant appearance in text: CD6: R225W; rs11230563
Experimental and genetic evidence for the impact of CD5 and CD6 expression and variation in inflammatory bowel disease.
Frontiers In Immunology
Casadó-Llombart, Sergi S; Velasco-de Andrés, María M; Català, Cristina C; Leyton-Pereira, Alejandra A; Gutiérrez-Cózar, Rebeca R; Suárez, Belén B; Armiger, Noelia N; Carreras, Esther E; Esteller, Miriam M; Ricart, Elena E; Ordás, Ingrid I; Gisbert, Javier P JP; Chaparro, María M; Esteve, María M; Márquez, Lucía L; Busquets, David D; Iglesias, Eva E; García-Planella, Esther E; Martín-Arranz, María Dolores MD; Lohmann, Juliane J; Ayata, C Korcan CK; Niess, Jan Hendrik JH; Engel, Pablo P; Panés, Julián J; Salas, Azucena A; Domènech, Eugeni E; Lozano, Francisco F; ,
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: CD6: R225W; rs11230563
Gene variation impact on prostate cancer progression: Lymphocyte modulator, activation, and cell adhesion gene variant contribution.
The Prostate
Casadó-Llombart, Sergi S; Ajami, Tarek T; Consuegra-Fernández, Marta M; Carreras, Esther E; Aranda, Fernando F; Armiger, Noelia N; Alcaraz, Antonio A; Mengual, Lourdes L; Lozano, Francisco F
Gene Variation at Immunomodulatory and Cell Adhesion Molecules Loci Impacts Primary Sjögren's Syndrome.
Frontiers In Medicine
Casadó-Llombart, Sergi S; Gheitasi, Hoda H; Ariño, Silvia S; Consuegra-Fernández, Marta M; Armiger-Borràs, Noelia N; Kostov, Belchin B; Ramos-Casals, Manuel M; Brito-Zerón, Pilar P; Lozano, Francisco F
The Effect of Phenotype and Genotype on the Plasma Proteome in Patients with Inflammatory Bowel Disease.
Journal Of Crohn'S & Colitis
Bourgonje, Arno R AR; Hu, Shixian S; Spekhorst, Lieke M LM; Zhernakova, Daria V DV; Vich Vila, Arnau A; Li, Yanni Y; Voskuil, Michiel D MD; van Berkel, Lisette A LA; Bley Folly, Brenda B; Charrout, Mohammed M; Mahfouz, Ahmed A; Reinders, Marcel J T MJT; van Heck, Julia I P JIP; Joosten, Leo A B LAB; Visschedijk, Marijn C MC; van Dullemen, Hendrik M HM; Faber, Klaas Nico KN; Samsom, Janneke N JN; Festen, Eleonora A M EAM; Dijkstra, Gerard G; Weersma, Rinse K RK
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: CD6: 673C>T; Arg225Trp; rs11230563
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: CD6: 673C>T; R225W; rs11230563
Genetic risk factors predict disease progression in Crohn's disease patients of the Swiss inflammatory bowel disease cohort.
Therapeutic Advances In Gastroenterology
Ditrich, Felicitas F; Blümel, Sena S; Biedermann, Luc L; Fournier, Nicolas N; Rossel, Jean-Benoit JB; Ellinghaus, David D; Franke, Andre A; Stange, Eduard F EF; Rogler, Gerhard G; Scharl, Michael M; ,
Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults.
Genome Medicine
Hillary, Robert F RF; Trejo-Banos, Daniel D; Kousathanas, Athanasios A; McCartney, Daniel L DL; Harris, Sarah E SE; Stevenson, Anna J AJ; Patxot, Marion M; Ojavee, Sven Erik SE; Zhang, Qian Q; Liewald, David C DC; Ritchie, Craig W CW; Evans, Kathryn L KL; Tucker-Drob, Elliot M EM; Wray, Naomi R NR; McRae, Allan F AF; Visscher, Peter M PM; Deary, Ian J IJ; Robinson, Matthew R MR; Marioni, Riccardo E RE
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: CD6: R225W; rs11230563
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
Publication Date: 2019-03-20
Variant appearance in text: CD6: R225W; rs11230563
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: CD6: 673C>T; Arg225Trp; rs11230563
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: CD6: R225W; rs11230563
Genetic and experimental evidence for the involvement of the CD6 lymphocyte receptor in psoriasis.
Cellular & Molecular Immunology
Consuegra-Fernández, Marta M; Julià, Marc M; Martínez-Florensa, Mario M; Aranda, Fernando F; Català, Cristina C; Armiger-Borràs, Noelia N; Arias, María-Teresa MT; Santiago, Francisca F; Guilabert, Antonio A; Esteve, Anna A; Muñoz, Carlos C; Ferrándiz, Carlos C; Carrascosa, José-Manuel JM; Pedrosa, Edurne E; Romaní, Jorge J; Alsina, Mercè M; Mascaró-Galy, José-Manuel JM; Lozano, Francisco F
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13
Variant appearance in text: CD6: R225W; rs11230563
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
Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.
Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Clonal relationships between lobular carcinoma in situ and other breast malignancies.
Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
Nature Genetics
Ellinghaus, David D; Jostins, Luke L; Spain, Sarah L SL; Cortes, Adrian A; Bethune, Jörn J; Han, Buhm B; Park, Yu Rang YR; Raychaudhuri, Soumya S; Pouget, Jennie G JG; Hübenthal, Matthias M; Folseraas, Trine T; Wang, Yunpeng Y; Esko, Tonu T; Metspalu, Andres A; Westra, Harm-Jan HJ; Franke, Lude L; Pers, Tune H TH; Weersma, Rinse K RK; Collij, Valerie V; D'Amato, Mauro M; Halfvarson, Jonas J; Jensen, Anders Boeck AB; Lieb, Wolfgang W; Degenhardt, Franziska F; Forstner, Andreas J AJ; Hofmann, Andrea A; , ; , ; , ; , ; , ; Schreiber, Stefan S; Mrowietz, Ulrich U; Juran, Brian D BD; Lazaridis, Konstantinos N KN; Brunak, Søren S; Dale, Anders M AM; Trembath, Richard C RC; Weidinger, Stephan S; Weichenthal, Michael M; Ellinghaus, Eva E; Elder, James T JT; Barker, Jonathan N W N JN; Andreassen, Ole A OA; McGovern, Dermot P DP; Karlsen, Tom H TH; Barrett, Jeffrey C JC; Parkes, Miles M; Brown, Matthew A MA; Franke, Andre A
Structures of CD6 and Its Ligand CD166 Give Insight into Their Interaction.
Structure (London, England : 1993)
Chappell, Paul E PE; Garner, Lee I LI; Yan, Jun J; Metcalfe, Clive C; Hatherley, Deborah D; Johnson, Steven S; Robinson, Carol V CV; Lea, Susan M SM; Brown, Marion H MH
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
Oncotarget
Backes, Christina C; Harz, Christian C; Fischer, Ulrike U; Schmitt, Jana J; Ludwig, Nicole N; Petersen, Britt-Sabina BS; Mueller, Sabine C SC; Kim, Yoo-Jin YJ; Wolf, Nadine M NM; Katus, Hugo A HA; Meder, Benjamin B; Furtwängler, Rhoikos R; Franke, Andre A; Bohle, Rainer R; Henn, Wolfram W; Graf, Norbert N; Keller, Andreas A; Meese, Eckart E
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: CD6: R225W; rs11230563
Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients.
Inflammatory Bowel Diseases
Weizman, Adam A; Huang, Brian B; Berel, Dror D; Targan, Stephan R SR; Dubinsky, Marla M; Fleshner, Phillip P; Ippoliti, Andrew A; Kaur, Manreet M; Panikkath, Deepa D; Brant, Steve S; Oikonomou, Ioannis I; Duerr, Rick R; Rioux, John J; Silverberg, Mark M; Rotter, Jerome I JI; Vasiliauskas, Eric E; Haritunians, Talin T; Shih, David D; Li, Dalin D; Melmed, Gil Y GY; McGovern, Dermot P B DP
Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.
Plos One
Swaminathan, Bhairavi B; Cuapio, Angélica A; Alloza, Iraide I; Matesanz, Fuencisla F; Alcina, Antonio A; García-Barcina, Maria M; Fedetz, Maria M; Fernández, Oscar O; Lucas, Miguel M; Orpez, Teresa T; Pinto-Medel, M Jesus MJ; Otaegui, David D; Olascoaga, Javier J; Urcelay, Elena E; Ortiz, Miguel A MA; Arroyo, Rafael R; Oksenberg, Jorge R JR; Antigüedad, Alfredo A; Tolosa, Eva E; Vandenbroeck, Koen K
Publication Date: 2013
Variant appearance in text: CD6: R225W; rs11230563
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Nature
Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH
A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.
European Journal Of Human Genetics : Ejhg
Bos, Steffan D SD; Lakenberg, Nico N; van der Breggen, Ruud R; Houwing-Duistermaat, Jeanine J JJ; Kloppenburg, Margreet M; de Craen, Anton J M AJ; Beekman, Marian M; Meulenbelt, Ingrid I; Slagboom, P Eline PE
Multiple sclerosis susceptibility alleles in African Americans.
Genes And Immunity
Johnson, B A BA; Wang, J J; Taylor, E M EM; Caillier, S J SJ; Herbert, J J; Khan, O A OA; Cross, A H AH; De Jager, P L PL; Gourraud, P-A F PA; Cree, B C A BC; Hauser, S L SL; Oksenberg, J R JR