Publications:

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Geographic Atrophy in Age-Related Macular Degeneration: A Tale of Two Stages.

Ophthalmology Science

Keenan, Tiarnan D L TDL

Publication Date: 2023-09

Variant appearance in text: rs2230199

PubMed Link: 37197703

Variant Present in the following documents:

• Main text
• main.pdf

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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

Publication Date: 2023-04-10

Variant appearance in text: rs2230199

PubMed Link: 37108192

Variant Present in the following documents:

• Main text
• ijms-24-07029.pdf

View BVdb publication page

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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

Publication Date: 2023-04-03

Variant appearance in text: C3a: R102G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science

Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J

Publication Date: 2023-06

Variant appearance in text: C3b: R102G; rs2230199

PubMed Link: 36909148

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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.

Diabetologia

Rudman, Najda N; Kaur, Simranjeet S; Simunović, Vesna V; Kifer, Domagoj D; Šoić, Dinko D; Keser, Toma T; Štambuk, Tamara T; Klarić, Lucija L; Pociot, Flemming F; Morahan, Grant G; Gornik, Olga O

Publication Date: 2023-03-13

Variant appearance in text: rs2230199

PubMed Link: 36907892

Variant Present in the following documents:

• Main text
• 125_2023_Article_5881.pdf

View BVdb publication page

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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

Publication Date: 2023-01

Variant appearance in text: rs2230199

PubMed Link: 36653562

Variant Present in the following documents:

• 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Relationships between Lipid-Related Metabolites and Age-Related Macular Degeneration Vary with Complement Genotype.

Ophthalmology Science

Sim, Ralene Zi Hui RZH; Tham, Yih-Chung YC; Betzler, Bjorn Kaijun BK; Zhou, Lei L; Wang, Xiaomeng X; Sabanayagam, Charumathi C; Cheung, Gemmy Chiu Ming GCM; Wong, Tien Yin TY; Cheng, Ching-Yu CY; Nusinovici, Simon S

Publication Date: 2022-12

Variant appearance in text: rs2230199

PubMed Link: 36531576

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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

Publication Date: 2022-11-15

Variant appearance in text: rs2230199

PubMed Link: 36379987

Variant Present in the following documents:

• 41598_2022_Article_20936.pdf

View BVdb publication page

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Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential.

International Journal Of Molecular Sciences

Stradiotto, Elisa E; Allegrini, Davide D; Fossati, Giovanni G; Raimondi, Raffaele R; Sorrentino, Tania T; Tripepi, Domenico D; Barone, Gianmaria G; Inforzato, Antonio A; Romano, Mario R MR

Publication Date: 2022-10-31

Variant appearance in text: rs2230199

PubMed Link: 36362067

Variant Present in the following documents:

• Main text
• ijms-23-13280.pdf

View BVdb publication page

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The COVID-19 Pandemic and Explaining Outcomes in Africa: Could Genomic Variation Add to the Debate?

Omics : A Journal Of Integrative Biology

Soko, Nyarai D ND; Dlamini, Sipho S; Ntsekhe, Mpiko M; Dandara, Collet C

Publication Date: 2022-11

Variant appearance in text: rs2230199

PubMed Link: 36322905

Variant Present in the following documents:

• Main text
• omi.2022.0108.pdf

View BVdb publication page

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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: rs2230199

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Age-related macular degeneration and myeloproliferative neoplasms - A common pathway.

Acta Ophthalmologica

Liisborg, Charlotte C

Publication Date: 2022-10

Variant appearance in text: rs2230199

PubMed Link: 36200281

Variant Present in the following documents:

• Main text
• AOS-100-3.pdf

View BVdb publication page

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Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification.

Statistics In Medicine

Beesley, Lauren J LJ; Mukherjee, Bhramar B

Publication Date: 2022-12-10

Variant appearance in text: rs2230199

PubMed Link: 36131394

Variant Present in the following documents:

• SIM-41-5501.pdf

View BVdb publication page

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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

Publication Date: 2022-12

Variant appearance in text: C3: Arg102Gly; rs2230199

PubMed Link: 36108770

Variant Present in the following documents:

• Main text
• nihms-1879849.pdf

View BVdb publication page

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Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Immunological Reviews

Rodríguez de Córdoba, Santiago S

Publication Date: 2022-09-11

Variant appearance in text: C3b: R102G

PubMed Link: 36089777

Variant Present in the following documents:

• Main text
• IMR-313-71.pdf

View BVdb publication page

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Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

International Journal Of Molecular Sciences

Chang, Kao-Jung KJ; Wu, Hsin-Yu HY; Yarmishyn, Aliaksandr A AA; Li, Cheng-Yi CY; Hsiao, Yu-Jer YJ; Chi, Yi-Chun YC; Lo, Tzu-Chen TC; Dai, He-Jhen HJ; Yang, Yi-Chiang YC; Liu, Ding-Hao DH; Hwang, De-Kuang DK; Chen, Shih-Jen SJ; Hsu, Chih-Chien CC; Kao, Chung-Lan CL

Publication Date: 2022-08-26

Variant appearance in text: rs2230199

PubMed Link: 36077104

Variant Present in the following documents:

• Main text
• ijms-23-09707.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2230199

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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WAMD: From Pathophysiology to Therapeutic Treatments.

Biomedicines

Menna, Feliciana F; Meduri, Alessandro A; Lupo, Stefano S; Vingolo, Enzo Maria EM

Publication Date: 2022-08-17

Variant appearance in text: rs2230199

PubMed Link: 36009542

Variant Present in the following documents:

• Main text
• biomedicines-10-01996.pdf

View BVdb publication page

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Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Investigative Ophthalmology & Visual Science

Farinha, Cláudia C; Barreto, Patrícia P; Coimbra, Rita R; Iutis, Adela A; Cachulo, Maria Luz ML; Cunha-Vaz, José J; Lechanteur, Yara T E YTE; Hoyng, Carel B CB; Silva, Rufino R

Publication Date: 2022-08-02

Variant appearance in text: rs2230199

PubMed Link: 35925583

Variant Present in the following documents:

• Main text
• iovs-63-9-5.pdf

View BVdb publication page

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Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Genes

Shughoury, Aumer A; Sevgi, Duriye Damla DD; Ciulla, Thomas A TA

Publication Date: 2022-07-12

Variant appearance in text: C3b: Arg102Gly; rs2230199

PubMed Link: 35886016

Variant Present in the following documents:

• Main text
• genes-13-01233.pdf

View BVdb publication page

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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: rs2230199

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and Functional Evidence of Complement Dysregulation in Multiple Myeloma Patients with Carfilzomib-Induced Thrombotic Microangiopathy Compared to Controls.

Journal Of Clinical Medicine

Gavriilaki, Eleni E; Dalampira, Dimitra D; Theodorakakou, Foteini F; Liacos, Christine-Ivy CI; Kanellias, Nikolaos N; Eleutherakis-Papaiakovou, Evangelos E; Terpos, Evangelos E; Gavriatopoulou, Maria M; Verrou, Evgenia E; Triantafyllou, Theodora T; Sevastoudi, Aggeliki A; Koravou, Evaggelia-Evdoxia EE; Touloumenidou, Tasoula T; Varelas, Christos C; Papalexandri, Apostolia A; Sakellari, Ioanna I; Dimopoulos, Meletios A MA; Kastritis, Efstathios E; Katodritou, Eirini E

Publication Date: 2022-06-10

Variant appearance in text: rs2230199

PubMed Link: 35743426

Variant Present in the following documents:

• Main text
• jcm-11-03355.pdf

View BVdb publication page

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A proteogenomic signature of age-related macular degeneration in blood.

Nature Communications

Emilsson, Valur V; Gudmundsson, Elias F EF; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Twarog, Michael M; Gudmundsdottir, Valborg V; Li, Zhiguang Z; Finkel, Nancy N; Poor, Stephen S; Liu, Xin X; Esterberg, Robert R; Zhang, Yiyun Y; Jose, Sandra S; Huang, Chia-Ling CL; Liao, Sha-Mei SM; Loureiro, Joseph J; Zhang, Qin Q; Grosskreutz, Cynthia L CL; Nguyen, Andrew A AA; Huang, Qian Q; Leehy, Barrett B; Pitts, Rebecca R; Aspelund, Thor T; Lamb, John R JR; Jonasson, Fridbert F; Launer, Lenore J LJ; Cotch, Mary Frances MF; Jennings, Lori L LL; Gudnason, Vilmundur V; Walshe, Tony E TE

Publication Date: 2022-06-13

Variant appearance in text: rs2230199

PubMed Link: 35697682

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31085.pdf

View BVdb publication page

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Host polymorphisms and COVID-19 infection.

Advances In Clinical Chemistry

Delanghe, Joris R JR; Speeckaert, Marijn M MM

Publication Date: 2022

Variant appearance in text: rs2230199

PubMed Link: 35337605

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Exudative versus Nonexudative Age-Related Macular Degeneration: Physiopathology and Treatment Options.

International Journal Of Molecular Sciences

Fernandes, Ana Rita AR; Zielińska, Aleksandra A; Sanchez-Lopez, Elena E; Dos Santos, Tiago T; Garcia, Maria Luisa ML; Silva, Amelia M AM; Karczewski, Jacek J; Souto, Eliana B EB

Publication Date: 2022-02-26

Variant appearance in text: C3a: R102G

PubMed Link: 35269743

Variant Present in the following documents:

• ijms-23-02592.pdf

View BVdb publication page

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Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision

Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T

Publication Date: 2021

Variant appearance in text: rs2230199

PubMed Link: 35136347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with MPNs and retinal drusen show signs of complement system dysregulation and a high degree of chronic low-grade inflammation.

Eclinicalmedicine

Liisborg, Charlotte C; Skov, Vibe V; Kjær, Lasse L; Hasselbalch, Hans Carl HC; Sørensen, Torben Lykke TL

Publication Date: 2022-01

Variant appearance in text: rs2230199

PubMed Link: 35128362

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Association of Serum Complement C1q and C3 Level with Age-Related Macular Degeneration in Women.

Journal Of Inflammation Research

Ma, Yingbo Y; Ding, Xueqing X; Shao, Mingxi M; Qiu, Yichao Y; Li, Shengjie S; Cao, Wenjun W; Xu, Gezhi G

Publication Date: 2022

Variant appearance in text: rs2230199

PubMed Link: 35058703

Variant Present in the following documents:

• Main text
• jir-15-285.pdf

View BVdb publication page

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Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Genes & Diseases

Deng, Yanhui Y; Qiao, Lifeng L; Du, Mingyan M; Qu, Chao C; Wan, Ling L; Li, Jie J; Huang, Lulin L

Publication Date: 2022-01

Variant appearance in text: C3b: R102G; rs2230199

PubMed Link: 35005108

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Insights into the Impact of Complement in Alzheimer's Disease.

Genes

Torvell, Megan M; Carpanini, Sarah M SM; Daskoulidou, Nikoleta N; Byrne, Robert A J RAJ; Sims, Rebecca R; Morgan, B Paul BP

Publication Date: 2021-12-15

Variant appearance in text: rs2230199

PubMed Link: 34946939

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Insights into the Impact of Complement in Alzheimer's Disease.

Genes

Torvell, Megan M; Carpanini, Sarah M SM; Daskoulidou, Nikoleta N; Byrne, Robert A J RAJ; Sims, Rebecca R; Morgan, B Paul BP

Publication Date: 2021-12-15

Variant appearance in text: rs2230199

PubMed Link: 34946939

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2021-11-25

Variant appearance in text: C3a: Arg102Gly; rs2230199

PubMed Link: 34945728

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2021-11-25

Variant appearance in text: C3a: Arg102Gly; rs2230199

PubMed Link: 34945728

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model.

Nature Communications

Sharma, Ruchi R; George, Aman A; Nimmagadda, Malika M; Ortolan, Davide D; Karla, Barbosa-Sabanero BS; Qureshy, Zoya Z; Bose, Devika D; Dejene, Roba R; Liang, Genqing G; Wan, Qin Q; Chang, Justin J; Jha, Balendu Shekhar BS; Memon, Omar O; Miyagishima, Kiyoharu Joshua KJ; Rising, Aaron A; Lal, Madhu M; Hanson, Eric E; King, Rebecca R; Campos, Mercedes Maria MM; Ferrer, Marc M; Amaral, Juan J; McGaughey, David D; Bharti, Kapil K

Publication Date: 2021-12-15

Variant appearance in text: C3a: R102G; rs2230199

PubMed Link: 34911940

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27488.pdf

View BVdb publication page

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Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model.

Nature Communications

Sharma, Ruchi R; George, Aman A; Nimmagadda, Malika M; Ortolan, Davide D; Karla, Barbosa-Sabanero BS; Qureshy, Zoya Z; Bose, Devika D; Dejene, Roba R; Liang, Genqing G; Wan, Qin Q; Chang, Justin J; Jha, Balendu Shekhar BS; Memon, Omar O; Miyagishima, Kiyoharu Joshua KJ; Rising, Aaron A; Lal, Madhu M; Hanson, Eric E; King, Rebecca R; Campos, Mercedes Maria MM; Ferrer, Marc M; Amaral, Juan J; McGaughey, David D; Bharti, Kapil K

Publication Date: 2021-12-15

Variant appearance in text: C3a: R102G; rs2230199

PubMed Link: 34911940

Variant Present in the following documents:

• Main text
• 41467_2021_Article_27488.pdf

View BVdb publication page

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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.

Frontiers In Immunology

Tirado, Thais Cristina TC; Moura, Larine Lowry LL; Shigunov, Patrícia P; Figueiredo, Fabiano Borges FB

Publication Date: 2021

Variant appearance in text: rs2230199

PubMed Link: 34899745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort.

Scientific Reports

Kaye, Rebecca A RA; Patasova, Karina K; Patel, Praveen J PJ; Hysi, Pirro P; Lotery, Andrew J AJ; ,

Publication Date: 2021-12-01

Variant appearance in text: rs2230199

PubMed Link: 34853365

Variant Present in the following documents:

• Main text

View BVdb publication page

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Innate-Immunity Genes in Obesity.

Journal Of Personalized Medicine

Mikhailova, Svetlana V SV; Ivanoshchuk, Dinara E DE

Publication Date: 2021-11-14

Variant appearance in text: rs2230199

PubMed Link: 34834553

Variant Present in the following documents:

• Main text

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Optimized Prediction Models from Fundus Imaging and Genetics for Late Age-Related Macular Degeneration.

Journal Of Personalized Medicine

Govindaiah, Arun A; Baten, Abdul A; Smith, R Theodore RT; Balasubramanian, Siva S; Bhuiyan, Alauddin A

Publication Date: 2021-11-01

Variant appearance in text: rs2230199

PubMed Link: 34834479

Variant Present in the following documents:

• Main text
• jpm-11-01127.pdf

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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

Publication Date: 2022-11

Variant appearance in text: rs2230199

PubMed Link: 34750590

Variant Present in the following documents:

• Main text
• 41433_2021_Article_1824.pdf

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: rs2230199

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: rs2230199

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 3

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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

Publication Date: 2021-11-01

Variant appearance in text: rs2230199

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

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Clinical Manifestations of Cuticular Drusen: Current Perspectives.

Clinical Ophthalmology (Auckland, N.Z.)

Fragiotta, Serena S; Fernández-Avellaneda, Pedro P; Breazzano, Mark P MP; Scuderi, Gianluca G

Publication Date: 2021

Variant appearance in text: rs2230199

PubMed Link: 34584401

Variant Present in the following documents:

• Main text
• opth-15-3877.pdf

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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

Publication Date: 2021-09-11

Variant appearance in text: rs2230199

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf

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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

Publication Date: 2022-02-03

Variant appearance in text: rs2230199

PubMed Link: 34508573

Variant Present in the following documents:

• Main text
• ddab256.pdf

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Complement Inhibitors in Age-Related Macular Degeneration: A Potential Therapeutic Option.

Journal Of Immunology Research

Qin, Shuqi S; Dong, Ning N; Yang, Ming M; Wang, Jialin J; Feng, Xue X; Wang, Yanling Y

Publication Date: 2021

Variant appearance in text: C3b: R102G

PubMed Link: 34368372

Variant Present in the following documents:

• Main text
• JIR2021-9945725.pdf

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