C3 c.941C>T ;(p.P314L)

Variant ID: 19-6713262-G-A

NM_000064.2(C3):c.941C>T;(p.P314L)

This variant was identified in 75 publications

View GRCh38 version.




Publications:


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: rs1047286
PubMed Link: 36907892
Variant Present in the following documents:
  • Main text
  • 125_2023_Article_5881.pdf
View BVdb publication page



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; ,
Publication Date: 2022-12-01

Variant appearance in text: rs1047286
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: rs1047286
PubMed Link: 36362067
Variant Present in the following documents:
  • Main text
  • ijms-23-13280.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



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: rs1047286
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



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: rs1047286
PubMed Link: 35886016
Variant Present in the following documents:
  • Main text
  • genes-13-01233.pdf
View BVdb publication page



Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology
Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A
Publication Date: 2022-06-28

Variant appearance in text: C3: P314L; rs1047286
PubMed Link: 35877417
Variant Present in the following documents:
  • Main text
  • cimb-44-00193.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines
Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM
Publication Date: 2022-04-26

Variant appearance in text: rs1047286
PubMed Link: 35625740
Variant Present in the following documents:
  • biomedicines-10-01003.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 35136347
Variant Present in the following documents:
  • Main text
  • mv-v27-757.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 9
View BVdb publication page



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: rs1047286
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 3
View BVdb publication page



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
Publication Date: 2021-04-15

Variant appearance in text: rs1047286
PubMed Link: 33920896
Variant Present in the following documents:
  • Main text
View BVdb publication page



SARS-CoV-2 associated Complement genetic variants possibly deregulate the activation of the Alternative pathway affecting the severity of infection.

Molecular Immunology
Tsiftsoglou, Stefanos A SA
Publication Date: 2021-07

Variant appearance in text: C3: P314L; rs1047286
PubMed Link: 33838929
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 3
  • mmc1.xlsx, sheet 2
  • main.pdf
View BVdb publication page



Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome.

Frontiers In Immunology
Gómez Delgado, Irene I; Corvillo, Fernando F; Nozal, Pilar P; Arjona, Emilia E; Madrid, Álvaro Á; Melgosa, Marta M; Bravo, Juan J; Szilágyi, Ágnes Á; Csuka, Dorottya D; Veszeli, Nóra N; Prohászka, Zoltán Z; Sánchez-Corral, Pilar P
Publication Date: 2021

Variant appearance in text: C3b: P314L
PubMed Link: 33777036
Variant Present in the following documents:
  • Main text
View BVdb publication page



A double edged-sword - The Complement System during SARS-CoV-2 infection.

Life Sciences
Santiesteban-Lores, Lazara Elena LE; Amamura, Thais Akemi TA; da Silva, Tiago Francisco TF; Midon, Leonardo Moura LM; Carneiro, Milena Carvalho MC; Isaac, Lourdes L; Bavia, Lorena L
Publication Date: 2021-05-01

Variant appearance in text: rs1047286
PubMed Link: 33609539
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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
Publication Date: 2020-10

Variant appearance in text: rs1047286
PubMed Link: 32747830
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2020-06-06

Variant appearance in text: rs1047286
PubMed Link: 32511494
Variant Present in the following documents:
  • Main text
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs1047286
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.

Bioscience Reports
Yu, Qianqian Q; Zhu, Jing J; Yao, Yong Y; Sun, Chao C
Publication Date: 2020-04-30

Variant appearance in text: rs1047286
PubMed Link: 32215612
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20200406.pdf
View BVdb publication page



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
Publication Date: 2020-02

Variant appearance in text: rs1047286
PubMed Link: 31919107
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2020-08

Variant appearance in text: rs1047286
PubMed Link: 31811640
Variant Present in the following documents:
  • Main text
  • 12975_2019_Article_757.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs1047286
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1047286
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics
Kloek, Anne T AT; Brouwer, Matthijs C MC; van de Beek, Diederik D
Publication Date: 2019-09-13

Variant appearance in text: rs1047286
PubMed Link: 31519222
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2019-07

Variant appearance in text: C3b: P314L
PubMed Link: 31312772
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2019-09-01

Variant appearance in text: rs1047286
PubMed Link: 31289819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.

Frontiers In Immunology
Valoti, Elisabetta E; Alberti, Marta M; Iatropoulos, Paraskevas P; Piras, Rossella R; Mele, Caterina C; Breno, Matteo M; Cremaschi, Alessandra A; Bresin, Elena E; Donadelli, Roberta R; Alizzi, Silvia S; Amoroso, Antonio A; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M
Publication Date: 2019

Variant appearance in text: C3: 941C>T; Pro314Leu; rs1047286
PubMed Link: 31118930
Variant Present in the following documents:
  • Main text
  • fimmu-10-00853.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 30958262
Variant Present in the following documents:
  • elife-41608-supp9.xlsx, sheet 1
View BVdb publication page



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: rs1047286
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



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: rs1047286
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



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: rs1047286
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Association between genetic variation of complement C3 and the susceptibility to advanced age-related macular degeneration: a meta-analysis.

Bmc Ophthalmology
Zhang, Jun J; Li, Shuang S; Hu, Shuqiong S; Yu, Jiguo J; Xiang, Yi Y
Publication Date: 2018-10-23

Variant appearance in text: rs1047286
PubMed Link: 30352574
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Biomed Research International
Maugeri, Andrea A; Barchitta, Martina M; Mazzone, Maria Grazia MG; Giuliano, Francesco F; Agodi, Antonella A
Publication Date: 2018

Variant appearance in text: rs1047286
PubMed Link: 30225264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.

Frontiers In Immunology
Mohlin, Frida C FC; Gros, Piet P; Mercier, Eric E; Gris, Jean-Christophe Raymond JR; Blom, Anna M AM
Publication Date: 2018

Variant appearance in text: C3: 941C>T; P314L; rs1047286
PubMed Link: 30131807
Variant Present in the following documents:
  • Main text
  • fimmu-09-01813.pdf
View BVdb publication page



Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

Molecular Diagnosis & Therapy
Lorés-Motta, Laura L; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2018-06

Variant appearance in text: rs1047286
PubMed Link: 29700787
Variant Present in the following documents:
  • Main text
  • 40291_2018_Article_332.pdf
View BVdb publication page



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: rs1047286
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2016

Variant appearance in text: rs1047286
PubMed Link: 27258093
Variant Present in the following documents:
  • Main text
  • pone.0144367.pdf
View BVdb publication page



Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages.

Plos One
Schick, Tina T; Altay, Lebriz L; Viehweger, Eva E; Hoyng, Carel B CB; den Hollander, Anneke I AI; Felsch, Moritz M; Fauser, Sascha S
Publication Date: 2016

Variant appearance in text: rs1047286
PubMed Link: 27257685
Variant Present in the following documents:
  • Main text
View BVdb publication page



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; ,
Publication Date: 2016-06-02

Variant appearance in text: rs1047286
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Oxidative stress, innate immunity, and age-related macular degeneration.

Aims Molecular Science
Shaw, Peter X PX; Stiles, Travis T; Douglas, Christopher C; Ho, Daisy D; Fan, Wei W; Du, Hongjun H; Xiao, Xu X
Publication Date: 2016

Variant appearance in text: rs1047286
PubMed Link: 27239555
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2016-09

Variant appearance in text: rs1047286
PubMed Link: 27156982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ARMD9: P314L; rs1047286
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: rs1047286
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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A Preliminary Genetic Analysis of Complement 3 Gene and Schizophrenia.

Plos One
Ni, Jianliang J; Hu, Shuangfei S; Zhang, Jiangtao J; Tang, Wenxin W; Lu, Weihong W; Zhang, Chen C
Publication Date: 2015

Variant appearance in text: rs1047286
PubMed Link: 26305563
Variant Present in the following documents:
  • Main text
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Copy number variations and gene polymorphisms of complement components in ocular Behcet's disease and Vogt-Koyanagi-Harada syndrome.

Scientific Reports
Xu, Dengfeng D; Hou, Shengping S; Zhang, Jun J; Jiang, Yanni Y; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2015-08-13

Variant appearance in text: rs1047286
PubMed Link: 26269006
Variant Present in the following documents:
  • Main text
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Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population.

Journal Of Ophthalmology
Fang, Kai K; Gao, Pei P; Tian, Jun J; Qin, Xueying X; Yu, Wenzhen W; Li, Juan J; Chen, Qing Q; Huang, Lvzhen L; Chen, Dafang D; Hu, Yonghua Y; Li, Xiaoxin X
Publication Date: 2015

Variant appearance in text: rs1047286
PubMed Link: 25883802
Variant Present in the following documents:
  • Main text
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First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis.

Italian Journal Of Pediatrics
Szarvas, Nóra N; Szilágyi, Ágnes Á; Tasic, Velibor V; Nushi-Stavileci, Valbona V; Sofijanova, Aspazija A; Gucev, Zoran Z; Szabó, Miklós M; Szabó, Attila A; Szeifert, Lilla L; Reusz, György G; Rusai, Krisztina K; Arbeiter, Klaus K; Müller, Thomas T; Prohászka, Zoltán Z
Publication Date: 2014-12-11

Variant appearance in text: C3: P314L; rs1047286
PubMed Link: 25496981
Variant Present in the following documents:
  • Main text
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