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
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: APOB: 8216C>T; Pro2739Leu
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
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
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: APOB: P2739L; rs676210
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: APOB: P2739L; rs676210
Analysis of the APOB Gene and Apolipoprotein B Serum Levels in a Mexican Population with Acute Coronary Syndrome: Association with the Single Nucleotide Variants rs1469513, rs673548, rs676210, and rs1042034.
Genetics Research
Aceves-Ramírez, Maricela M; Valle, Yeminia Y; Casillas-Muñoz, Fidel F; Martínez-Fernández, Diana Emilia DE; Parra-Reyna, Brenda B; López-Moreno, Víctor Arturo VA; Flores-Salinas, Héctor Enrique HE; Valdés-Alvarado, Emmanuel E; Muñoz-Valle, José Francisco JF; García-Garduño, Texali T; Padilla-Gutiérrez, Jorge Ramón JR
Publication Date: 2022
Variant appearance in text: APOB: Pro2739Leu; rs676210
Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Polymorphisms in Genes of Lipid Metabolism Are Associated with Type 2 Diabetes Mellitus and Periodontitis, as Comorbidities, and with the Subjects' Periodontal, Glycemic, and Lipid Profiles.
Journal Of Diabetes Research
Nicchio, Ingra G IG; Cirelli, Thamiris T; Nepomuceno, Rafael R; Hidalgo, Marco A R MAR; Rossa, Carlos C; Cirelli, Joni A JA; Orrico, Silvana R P SRP; Barros, Silvana P SP; Theodoro, Letícia H LH; Scarel-Caminaga, Raquel M RM
Publication Date: 2021
Variant appearance in text: APOB: Pro2739Leu; rs676210
Hoskins, Jason W JW; Chung, Charles C CC; O'Brien, Aidan A; Zhong, Jun J; Connelly, Katelyn K; Collins, Irene I; Shi, Jianxin J; Amundadottir, Laufey T LT
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
Human Molecular Genetics
Pott, Janne J; Gådin, Jesper R JR; Theusch, Elizabeth E; Kleber, Marcus E ME; Delgado, Graciela E GE; Kirsten, Holger H; Hauck, Stefanie M SM; Burkhardt, Ralph R; Scharnagl, Hubert H; Krauss, Ronald M RM; Loeffler, Markus M; März, Winfried W; Thiery, Joachim J; Silveira, Angela A; Van't Hooft, Ferdinand M FM; Scholz, Markus M
Publication Date: 2022-03-21
Variant appearance in text: APOB: P2739L; rs676210
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: APOB: 8216C>T; Pro2739Leu; rs676210
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21
Variant appearance in text: APOB: 8216C>T; P2739L; rs676210
Chromenopyrimidinone Controls Stemness and Malignancy by suppressing CD133 Expression in Hepatocellular Carcinoma.
Cancers
Song, Yeonhwa Y; Kim, Sanghwa S; Lee, Hyeryon H; No, Joo Hwan JH; Ryu, Hyung Chul HC; Kim, Jason J; Lim, Jee Woong JW; Kim, Moonhee M; Choi, Inhee I; Seo, Haeng Ran HR
Polygenic Hyperlipidemias and Coronary Artery Disease Risk.
Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: APOB: 8216C>T; Pro2739Leu
COPD-dependent effects of genetic variation in key inflammation pathway genes on lung cancer risk.
International Journal Of Cancer
Watza, Donovan D; Lusk, Christine M CM; Dyson, Gregory G; Purrington, Kristen S KS; Wenzlaff, Angela S AS; Neslund-Dudas, Christine C; Soubani, Ayman O AO; Gadgeel, Shirish M SM; Schwartz, Ann G AG
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.
Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09
Variant appearance in text: APOB: 8216C>T; Pro2739Leu; rs676210
In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.
Elife
Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J
Publication Date: 2019-04-08
Variant appearance in text: APOB: 8216C>T; P2739L; rs676210
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: APOB: P2739L; rs676210
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: APOB: 8216C>T; Pro2739Leu; rs676210