Integrated glycomics and genetics analyses reveal a potential role for N-glycosylation of plasma proteins and IgGs, as well as the complement system, in the development of type 1 diabetes.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
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
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Journal Of Personalized Medicine
Furmańczyk-Zawiska, Agnieszka A; Kubiak-Dydo, Anna A; Użarowska-Gąska, Ewelina E; Kotlarek-Łysakowska, Marta M; Salata, Katarzyna K; Kolanowska, Monika M; Świerniak, Michał M; Gaj, Paweł P; Leszczyńska, Beata B; Daniel, Maria M; Jażdżewski, Krystian K; Durlik, Magdalena M; Wójcicka, Anna A
Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection.
Nature Medicine
Ramlall, Vijendra V; Thangaraj, Phyllis M PM; Meydan, Cem C; Foox, Jonathan J; Butler, Daniel D; Kim, Jacob J; May, Ben B; De Freitas, Jessica K JK; Glicksberg, Benjamin S BS; Mason, Christopher E CE; Tatonetti, Nicholas P NP; Shapira, Sagi D SD
Identification of Immune complement function as a determinant of adverse SARS-CoV-2 infection outcome.
Medrxiv : The Preprint Server For Health Sciences
Ramlall, Vijendra V; Thangaraj, Phyllis M PM; Meydan, Cem C; Foox, Jonathan J; Butler, Daniel D; May, Ben B; De Freitas, Jessica K JK; Glicksberg, Benjamin S BS; Mason, Christopher E CE; Tatonetti, Nicholas P NP; Shapira, Sagi D SD
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Journal Of The American Society Of Nephrology : Jasn
Levine, Adam P AP; Chan, Melanie M Y MMY; Sadeghi-Alavijeh, Omid O; Wong, Edwin K S EKS; Cook, H Terence HT; Ashford, Sofie S; Carss, Keren K; Christian, Martin T MT; Hall, Matthew M; Harris, Claire Louise CL; McAlinden, Paul P; Marchbank, Kevin J KJ; Marks, Stephen D SD; Maxwell, Heather H; Megy, Karyn K; Penkett, Christopher J CJ; Mozere, Monika M; Stirrups, Kathleen E KE; Tuna, Salih S; Wessels, Julie J; Whitehorn, Deborah D; , ; , ; Johnson, Sally A SA; Gale, Daniel P DP
Complement C5 Contributes to Brain Injury After Subarachnoid Hemorrhage.
Translational Stroke Research
van Dijk, Bart J BJ; Meijers, Joost C M JCM; Kloek, Anne T AT; Knaup, Veronique L VL; Rinkel, Gabriel J E GJE; Morgan, B Paul BP; van der Kamp, Marije J MJ; Osuka, Koji K; Aronica, Eleonora E; Ruigrok, Ynte M YM; van de Beek, Diederik D; Brouwer, Matthijs M; Pekna, Marcela M; Hol, Elly M EM; Vergouwen, Mervyn D I MDI
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
A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome.
Kidney International Reports
Java, Anuja A; Pozzi, Nicola N; Love-Gregory, Latisha D LD; Heusel, Jonathan W JW; Sung, Yun Ju YJ; Hu, Zheng Z; Bertram, Paula P; Liszewski, M Kathryn MK; Cline, Laura M LM; Ren, Zhen Z; Atkinson, John P JP
Early complement genes are associated with visual system degeneration in multiple sclerosis.
Brain : A Journal Of Neurology
Fitzgerald, Kathryn C KC; Kim, Kicheol K; Smith, Matthew D MD; Aston, Sean A SA; Fioravante, Nicholas N; Rothman, Alissa M AM; Krieger, Stephen S; Cofield, Stacey S SS; Kimbrough, Dorlan J DJ; Bhargava, Pavan P; Saidha, Shiv S; Whartenby, Katharine A KA; Green, Ari J AJ; Mowry, Ellen M EM; Cutter, Gary R GR; Lublin, Fred D FD; Baranzini, Sergio E SE; De Jager, Philip L PL; Calabresi, Peter A PA
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
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
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
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
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
Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration.
Plos One
Saksens, Nicole T M NT; Lechanteur, Yara T E YT; Verbakel, Sanne K SK; Groenewoud, Joannes M M JM; Daha, Mohamed R MR; Schick, Tina T; Fauser, Sascha S; Boon, Camiel J F CJ; Hoyng, Carel B CB; den Hollander, Anneke I AI
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Risk factors and biomarkers of age-related macular degeneration.
Progress In Retinal And Eye Research
Lambert, Nathan G NG; ElShelmani, Hanan H; Singh, Malkit K MK; Mansergh, Fiona C FC; Wride, Michael A MA; Padilla, Maximilian M; Keegan, David D; Hogg, Ruth E RE; Ambati, Balamurali K BK
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