Influence of Genetics on the Response to Omalizumab in Patients with Severe Uncontrolled Asthma with an Allergic Phenotype.
International Journal Of Molecular Sciences
Rojo-Tolosa, Susana S; Sánchez-Martínez, José Antonio JA; Pineda-Lancheros, Laura Elena LE; Gálvez-Navas, José María JM; González-Gutiérrez, María Victoria MV; Jiménez-Gálvez, Gonzalo G; Pérez-Ramírez, Cristina C; Morales-García, Concepción C; Jiménez-Morales, Alberto A
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.
FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays.
Scientific Reports
Kim, Kyoung Lae KL; Kim, Hyerim H; Lee, Youngju Y; Lee, Cheolju C; Joo, Kwangsic K; Park, Sang Jun SJ; Park, Kyu Hyung KH; Park, Seong-Jun SJ; Woo, Se Joon SJ
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
Systems genomics in age-related macular degeneration.
Experimental Eye Research
den Hollander, Anneke I AI; Mullins, Robert F RF; Orozco, Luz D LD; Voigt, Andrew P AP; Chen, Hsu-Hsin HH; Strunz, Tobias T; Grassmann, Felix F; Haines, Jonathan L JL; Kuiper, Jonas J W JJW; Tumminia, Santa J SJ; Allikmets, Rando R; Hageman, Gregory S GS; Stambolian, Dwight D; Klaver, Caroline C W CCW; Boeke, Jef D JD; Chen, Hao H; Honigberg, Lee L; Katti, Suresh S; Frazer, Kelly A KA; Weber, Bernhard H F BHF; Gorin, Michael B MB
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
Genetic and Functional Evidence of Complement Dysregulation in Multiple Myeloma Patients with Carfilzomib-Induced Thrombotic Microangiopathy Compared to Controls.
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Methodological Appraisal of Literature Concerning the Analysis of Genetic Variants or Protein Levels of Complement Components on Susceptibility to Infection by Trypanosomatids: A Systematic Review.
The effect of systemic levels of TNF-alpha and complement pathway activity on outcomes of VEGF inhibition in neovascular AMD.
Eye (London, England)
Khan, Adnan H AH; Pierce, Charles O CO; De Salvo, Gabriella G; Griffiths, Helen H; Nelson, Marie M; Cree, Angela J AJ; Menon, Geeta G; Lotery, Andrew J AJ
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
Jama Ophthalmology
de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.
Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Human Mutation
Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ
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