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
Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.
Hgg Advances
Canson, Daffodil M DM; O'Mara, Tracy A TA; Spurdle, Amanda B AB; Glubb, Dylan M DM
Publication Date: 2023-04-13
Variant appearance in text: SKAP1: 481G>A; Gly161Ser; rs2278868
JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: SKAP1: 481G>A; G161S; rs2278868
Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: SKAP1: 481G>A; Gly161Ser; rs2278868
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
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: SKAP1: G161S; rs2278868
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: SKAP1: 481G>A; Gly161Ser; rs2278868
Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis.
International Journal Of Molecular Medicine
Papageorgiou, Louis L; Zervou, Maria I MI; Vlachakis, Dimitrios D; Matalliotakis, Michail M; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Goulielmos, George N GN; Eliopoulos, Elias E
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: SKAP1: 481G>A; G161S; rs2278868
Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.
Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22
Variant appearance in text: SKAP1: 481G>A; Gly161Ser
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: SKAP1: 481G>A; G161S; rs2278868
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: SKAP1: 481G>A; G161S; rs2278868
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
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: SKAP1: G161S; rs2278868
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: SKAP1: 481G>A; G161S; rs2278868
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: SKAP1: G161S; rs2278868
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
Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.
Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
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: SKAP1: G161S; rs2278868
Identification of nine new susceptibility loci for endometrial cancer.
Nature Communications
O'Mara, Tracy A TA; Glubb, Dylan M DM; Amant, Frederic F; Annibali, Daniela D; Ashton, Katie K; Attia, John J; Auer, Paul L PL; Beckmann, Matthias W MW; Black, Amanda A; Bolla, Manjeet K MK; Brauch, Hiltrud H; Brenner, Hermann H; Brinton, Louise L; Buchanan, Daniel D DD; Burwinkel, Barbara B; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chen, Chu C; Chen, Maxine M MM; Cheng, Timothy H T THT; Clarke, Christine L CL; Clendenning, Mark M; Cook, Linda S LS; Couch, Fergus J FJ; Cox, Angela A; Crous-Bous, Marta M; Czene, Kamila K; Day, Felix F; Dennis, Joe J; Depreeuw, Jeroen J; Doherty, Jennifer Anne JA; Dörk, Thilo T; Dowdy, Sean C SC; Dürst, Matthias M; Ekici, Arif B AB; Fasching, Peter A PA; Fridley, Brooke L BL; Friedenreich, Christine M CM; Fritschi, Lin L; Fung, Jenny J; García-Closas, Montserrat M; Gaudet, Mia M MM; Giles, Graham G GG; Goode, Ellen L EL; Gorman, Maggie M; Haiman, Christopher A CA; Hall, Per P; Hankison, Susan E SE; Healey, Catherine S CS; Hein, Alexander A; Hillemanns, Peter P; Hodgson, Shirley S; Hoivik, Erling A EA; Holliday, Elizabeth G EG; Hopper, John L JL; Hunter, David J DJ; Jones, Angela A; Krakstad, Camilla C; Kristensen, Vessela N VN; Lambrechts, Diether D; Marchand, Loic Le LL; Liang, Xiaolin X; Lindblom, Annika A; Lissowska, Jolanta J; Long, Jirong J; Lu, Lingeng L; Magliocco, Anthony M AM; Martin, Lynn L; McEvoy, Mark M; Meindl, Alfons A; Michailidou, Kyriaki K; Milne, Roger L RL; Mints, Miriam M; Montgomery, Grant W GW; Nassir, Rami R; Olsson, Håkan H; Orlow, Irene I; Otton, Geoffrey G; Palles, Claire C; Perry, John R B JRB; Peto, Julian J; Pooler, Loreall L; Prescott, Jennifer J; Proietto, Tony T; Rebbeck, Timothy R TR; Risch, Harvey A HA; Rogers, Peter A W PAW; Rübner, Matthias M; Runnebaum, Ingo I; Sacerdote, Carlotta C; Sarto, Gloria E GE; Schumacher, Fredrick F; Scott, Rodney J RJ; Setiawan, V Wendy VW; Shah, Mitul M; Sheng, Xin X; Shu, Xiao-Ou XO; Southey, Melissa C MC; Swerdlow, Anthony J AJ; Tham, Emma E; Trovik, Jone J; Turman, Constance C; Tyrer, Jonathan P JP; Vachon, Celine C; VanDen Berg, David D; Vanderstichele, Adriaan A; Wang, Zhaoming Z; Webb, Penelope M PM; Wentzensen, Nicolas N; Werner, Henrica M J HMJ; Winham, Stacey J SJ; Wolk, Alicja A; Xia, Lucy L; Xiang, Yong-Bing YB; Yang, Hannah P HP; Yu, Herbert H; Zheng, Wei W; Pharoah, Paul D P PDP; Dunning, Alison M AM; Kraft, Peter P; De Vivo, Immaculata I; Tomlinson, Ian I; Easton, Douglas F DF; Spurdle, Amanda B AB; Thompson, Deborah J DJ
Publication Date: 2018-08-09
Variant appearance in text: SKAP1: Gly161Ser; rs2278868
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
Cancer Medicine
Painter, Jodie N JN; O'Mara, Tracy A TA; Morris, Andrew P AP; Cheng, Timothy H T THT; Gorman, Maggie M; Martin, Lynn L; Hodson, Shirley S; Jones, Angela A; Martin, Nicholas G NG; Gordon, Scott S; Henders, Anjali K AK; Attia, John J; McEvoy, Mark M; Holliday, Elizabeth G EG; Scott, Rodney J RJ; Webb, Penelope M PM; Fasching, Peter A PA; Beckmann, Matthias W MW; Ekici, Arif B AB; Hein, Alexander A; Rübner, Matthias M; Hall, Per P; Czene, Kamila K; Dörk, Thilo T; Dürst, Matthias M; Hillemanns, Peter P; Runnebaum, Ingo I; Lambrechts, Diether D; Amant, Frederic F; Annibali, Daniela D; Depreeuw, Jeroen J; Vanderstichele, Adriaan A; Goode, Ellen L EL; Cunningham, Julie M JM; Dowdy, Sean C SC; Winham, Stacey J SJ; Trovik, Jone J; Hoivik, Erling E; Werner, Henrica M J HMJ; Krakstad, Camilla C; Ashton, Katie K; Otton, Geoffrey G; Proietto, Tony T; Tham, Emma E; Mints, Miriam M; Ahmed, Shahana S; Healey, Catherine S CS; Shah, Mitul M; Pharoah, Paul D P PDP; Dunning, Alison M AM; Dennis, Joe J; Bolla, Manjeet K MK; Michailidou, Kyriaki K; Wang, Qin Q; Tyrer, Jonathan P JP; Hopper, John L JL; Peto, Julian J; Swerdlow, Anthony J AJ; Burwinkel, Barbara B; Brenner, Hermann H; Meindl, Alfons A; Brauch, Hiltrud H; Lindblom, Annika A; Chang-Claude, Jenny J; Couch, Fergus J FJ; Giles, Graham G GG; Kristensen, Vessela N VN; Cox, Angela A; Zondervan, Krina T KT; Nyholt, Dale R DR; MacGregor, Stuart S; Montgomery, Grant W GW; Tomlinson, Ian I; Easton, Douglas F DF; Thompson, Deborah J DJ; Spurdle, Amanda B AB
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.
Scientific Reports
Sapkota, Yadav Y; Vivo, Immaculata De I; Steinthorsdottir, Valgerdur V; Fassbender, Amelie A; Bowdler, Lisa L; Buring, Julie E JE; Edwards, Todd L TL; Jones, Sarah S; O, Dorien D; Peterse, Daniëlle D; Rexrode, Kathryn M KM; Ridker, Paul M PM; Schork, Andrew J AJ; Thorleifsson, Gudmar G; Wallace, Leanne M LM; , ; Kraft, Peter P; Morris, Andrew P AP; Nyholt, Dale R DR; Edwards, Digna R Velez DRV; Nyegaard, Mette M; D'Hooghe, Thomas T; Chasman, Daniel I DI; Stefansson, Kari K; Missmer, Stacey A SA; Montgomery, Grant W GW
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: SKAP1: G161S; rs2278868
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
Publication Date: 2015-12-08
Variant appearance in text: SKAP1: G161S; rs2278868