CFH c.184G>A ;(p.V62I)

Variant ID: 1-196642233-G-A

NM_000186.3(CFH):c.184G>A;(p.V62I)

This variant was identified in 305 publications

View GRCh38 version.




Publications:


Multiplexed plasma protein classifiers for the diagnosis of age-related macular degeneration.

Clinical And Translational Medicine
Ahn, Hee-Sung HS; Lee, Youngju Y; Kim, Hyeong Min HM; Ju, Shinyeong S; Lee, Seonjeong S; Jeong, Hyeon-Gyo HG; Park, Sang Jun SJ; Park, Kyu Hyung KH; Lee, Junyeop J; Lee, Joo Yong JY; Woo, Se Joon SJ; Lee, Cheolju C
Publication Date: 2023-06

Variant appearance in text: CFH: Val62Ile; rs800292
PubMed Link: 37317693
Variant Present in the following documents:
  • Main text
  • CTM2-13-e1307.pdf
View BVdb publication page



Inflammation: The Link between Neural and Vascular Impairment in the Diabetic Retina and Therapeutic Implications.

International Journal Of Molecular Sciences
Ramos, Hugo H; Hernández, Cristina C; Simó, Rafael R; Simó-Servat, Olga O
Publication Date: 2023-05-15

Variant appearance in text: rs800292
PubMed Link: 37240138
Variant Present in the following documents:
  • Main text
  • ijms-24-08796.pdf
View BVdb publication page



Complement and COVID-19: Three years on, what we know, what we don't know, and what we ought to know.

Immunobiology
Zelek, Wioleta M WM; Harrison, Richard A RA
Publication Date: 2023-05-11

Variant appearance in text: rs800292
PubMed Link: 37187043
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multi-Polymorphism Analysis Reveals Joint Effects in Males With Chronic Central Serous Chorioretinopathy.

Investigative Ophthalmology & Visual Science
Chen, Zhen Ji ZJ; Ng, Danny S C DSC; Cen, Ling-Ping LP; Ng, Tsz Kin TK; Ho, Mary M; Brelen, Marten E ME; Li, Tai-Ping TP; Lu, Shi Yao SY; Tam, Pancy O S POS; Young, Alvin L AL; Chen, Weiqi W; Yam, Jason C JC; Chen, Haoyu H; Tham, Clement C CC; Pang, Chi Pui CP; Chen, Li Jia LJ
Publication Date: 2023-04-03

Variant appearance in text: rs800292
PubMed Link: 37067365
Variant Present in the following documents:
  • Main text
  • iovs-64-4-19.pdf
View BVdb publication page



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: CFH: V62I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

Vision (Basel, Switzerland)
Pearce, Elizabeth E; Sivaprasad, Sobha S; Broadgate, Suzanne S; Kiire, Christine C; Downes, Susan M SM; Halford, Stephanie S; Chong, Victor V
Publication Date: 2023-03-02

Variant appearance in text: rs800292
PubMed Link: 36977298
Variant Present in the following documents:
  • vision-07-00018.pdf
View BVdb publication page



Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.

Frontiers In Genetics
Shih, Chien-Hung CH; Chuang, Hao-Kai HK; Hsiao, Tzu-Hung TH; Yang, Yi-Ping YP; Gao, Chong-En CE; Chiou, Shih-Hwa SH; Hsu, Chih-Chien CC; Hwang, De-Kuang DK
Publication Date: 2023

Variant appearance in text: rs800292
PubMed Link: 36911400
Variant Present in the following documents:
  • Main text
  • fgene-14-1064659.pdf
View BVdb publication page



Hemolytic uremic syndrome in the setting of COVID-19 successfully treated with complement inhibition therapy: An instructive case report of a previously healthy toddler and review of literature.

Frontiers In Pediatrics
Matošević, Matija M; Kos, Ivanka I; Davidović, Maša M; Ban, Maja M; Matković, Hana H; Jakopčić, Ivan I; Vuković Brinar, Ivana I; Szilágyi, Ágnes Á; Csuka, Dorottya D; Sinkovits, György G; Prohászka, Zoltán Z; Vrljičak, Kristina K; Lamot, Lovro L
Publication Date: 2023

Variant appearance in text: CFH: V62I
PubMed Link: 36873657
Variant Present in the following documents:
  • Main text
  • fped-11-1092860.pdf
View BVdb publication page



Central serous chorioretinopathy: Pathophysiology, systemic associations, and a novel etiological classification.

Taiwan Journal Of Ophthalmology
Jain, Manish M; Mohan, Sashwanthi S; van Dijk, Elon H C EHC
Publication Date: 2022

Variant appearance in text: rs800292
PubMed Link: 36660127
Variant Present in the following documents:
  • TJO-12-381.pdf
View BVdb publication page



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: CFH: Val62Ile; rs800292
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: CFH: V62I; rs800292
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients.

Journal Of Clinical Medicine
Wąsowska, Anna A; Teper, Sławomir S; Matczyńska, Ewa E; Łyszkiewicz, Przemysław P; Sendecki, Adam A; Machalińska, Anna A; Wylęgała, Edward E; Boguszewska-Chachulska, Anna A
Publication Date: 2022-12-30

Variant appearance in text: CFH: 184G>A; Val62Ile; rs800292
PubMed Link: 36615095
Variant Present in the following documents:
  • Main text
  • jcm-12-00295.pdf
View BVdb publication page



Genetic Variants and Protective Immunity against SARS-CoV-2.

Genes
Rabaan, Ali A AA; Mutair, Abbas Al AA; Aljeldah, Mohammed M; Shammari, Basim R Al BRA; Sulaiman, Tarek T; Alshukairi, Abeer N AN; Alfaresi, Mubarak M; Al-Jishi, Jumana M JM; Al Bati, Neda A NA; Al-Mozaini, Maha A MA; Bshabshe, Ali Al AA; Almatouq, Jenan A JA; Abuzaid, Abdulmonem A AA; Alfaraj, Amal H AH; Al-Adsani, Wasl W; Alabdullah, Mohammed M; Alwarthan, Sara S; Alsalman, Fatimah F; Alwashmi, Ameen S S ASS; Alhumaid, Saad S
Publication Date: 2022-12-13

Variant appearance in text: rs800292
PubMed Link: 36553622
Variant Present in the following documents:
  • Main text
  • genes-13-02355.pdf
View BVdb publication page



Natural Course of Pachychoroid Pigment Epitheliopathy.

Ophthalmology Science
Yagi, Mariko M; Miyake, Masahiro M; Mori, Yuki Y; Hosoda, Yoshikatsu Y; Takahashi, Ayako A; Muraoka, Yuki Y; Ueda-Arakawa, Naoko N; Miyata, Manabu M; Yamashiro, Kenji K; Tamura, Hiroshi H; Ooto, Sotaro S; Tsujikawa, Akitaka A
Publication Date: 2022-12

Variant appearance in text: rs800292
PubMed Link: 36531587
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Life-Threating Postpartum Atypical Hemolytic-Uremic Syndrome with Multiorgan Involvement.

Journal Of Clinical Medicine
Sarno, Laura L; Conca, Paolo P; Capuano, Alfredo A; Tarantino, Giovanni G; Russo, Domenico D; Guida, Maurizio M
Publication Date: 2022-11-25

Variant appearance in text: CFH: V62I
PubMed Link: 36498532
Variant Present in the following documents:
  • jcm-11-06957.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: CFH: V62I; rs800292
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: CFH: 184G>A; V62I; rs800292
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



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: rs800292
PubMed Link: 36379987
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_20936.pdf
View BVdb publication page



Kidney diseases.

Immunological Reviews
Daina, Erica E; Cortinovis, Monica M; Remuzzi, Giuseppe G
Publication Date: 2022-11-12

Variant appearance in text: rs800292
PubMed Link: 36369988
Variant Present in the following documents:
  • Main text
  • IMR-313-239.pdf
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: rs800292
PubMed Link: 36362067
Variant Present in the following documents:
  • Main text
  • ijms-23-13280.pdf
View BVdb publication page



Characteristics of intermediate age-related macular degeneration with hyperreflective foci.

Scientific Reports
Kikushima, Wataru W; Sakurada, Yoichi Y; Sugiyama, Atsushi A; Yoneyama, Seigo S; Matsubara, Mio M; Fukuda, Yoshiko Y; Shijo, Taiyo T; Kotoda, Yumi Y; Fragiotta, Serena S; Kashiwagi, Kenji K
Publication Date: 2022-11-01

Variant appearance in text: rs800292
PubMed Link: 36319691
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_23380.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: CFH: V62I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: CFH: V62I; rs800292
PubMed Link: 36089777
Variant Present in the following documents:
  • Main text
  • IMR-313-71.pdf
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: CFH: V62I; rs800292
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
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genetic polymorphisms associated with susceptibility to COVID-19 disease and severity: A systematic review and meta-analysis.

Plos One
Dieter, Cristine C; Brondani, Letícia de Almeida LA; Leitão, Cristiane Bauermann CB; Gerchman, Fernando F; Lemos, Natália Emerim NE; Crispim, Daisy D
Publication Date: 2022

Variant appearance in text: rs800292
PubMed Link: 35793369
Variant Present in the following documents:
  • Main text
  • pone.0270627.pdf
View BVdb publication page



Distinct characteristics of central serous chorioretinopathy according to gender.

Scientific Reports
Yoneyama, Seigo S; Fukui, Ayumi A; Sakurada, Yoichi Y; Terao, Nobuhiro N; Shijo, Taiyo T; Kusada, Natsuki N; Sugiyama, Atsushi A; Matsubara, Mio M; Fukuda, Yoshiko Y; Kikushima, Wataru W; Parikh, Ravi R; Mabuchi, Fumihiko F; Sotozono, Chie C; Kashiwagi, Kenji K
Publication Date: 2022-06-22

Variant appearance in text: rs800292
PubMed Link: 35732691
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_14777.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CFH: 184G>A; Val62Ile
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.

Molecular Metabolism
Gilly, Arthur A; Klaric, Lucija L; Park, Young-Chan YC; Png, Grace G; Barysenka, Andrei A; Marsh, Joseph A JA; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Wilson, James F JF; Zeggini, Eleftheria E
Publication Date: 2022-07

Variant appearance in text: rs800292
PubMed Link: 35504531
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Polymorphisms in Genes Involved in Inflammation and Periodontitis: A Narrative Review.

Biomolecules
Brodzikowska, Aniela A; Górski, Bartłomiej B
Publication Date: 2022-04-07

Variant appearance in text: rs800292
PubMed Link: 35454140
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00552.pdf
View BVdb publication page



Class II Human Leukocyte Antigen (HLA) and Susceptibility to Polypoidal Choroidal Vasculopathy in Afro-Caribbean Descent.

Clinical Ophthalmology (Auckland, N.Z.)
Merle, Harold H; Béral, Laurence L; Rocher, Maxime M; Pierre, Mitta M; Jean-Charles, Albert A; Béra, Odile O; Rosamont, Laurie-Anne LA; Robert, Pierre-Yves PY; Lézin, Agnes A
Publication Date: 2022

Variant appearance in text: rs800292
PubMed Link: 35418742
Variant Present in the following documents:
  • Main text
  • opth-16-1047.pdf
View BVdb publication page



Progress in the genetics of uveitis.

Genes And Immunity
Huang, Xiu-Feng XF; Brown, Matthew A MA
Publication Date: 2022-04

Variant appearance in text: rs800292
PubMed Link: 35379982
Variant Present in the following documents:
  • Main text
  • 41435_2022_Article_168.pdf
View BVdb publication page



Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE.

International Journal Of Molecular Sciences
Peters, Florian F; Ebner, Lynn J A LJA; Atac, David D; Maggi, Jordi J; Berger, Wolfgang W; den Hollander, Anneke I AI; Grimm, Christian C
Publication Date: 2022-03-16

Variant appearance in text: rs800292
PubMed Link: 35328615
Variant Present in the following documents:
  • Main text
  • ijms-23-03194.pdf
View BVdb publication page



Common complement factor H polymorphisms are linked with periodontitis in elderly patients.

Journal Of Periodontology
Salminen, Aino A; Pietiäinen, Milla M; Paju, Susanna S; Sorsa, Timo T; Mäntylä, Päivi P; Buhlin, Kåre K; Sinisalo, Juha J; Pussinen, Pirkko J PJ
Publication Date: 2022-11

Variant appearance in text: CFH: Val62Ile; rs800292
PubMed Link: 35315933
Variant Present in the following documents:
  • Main text
  • JPER-93-1626.pdf
View BVdb publication page



Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy.

Bmc Biology
Wu, Kan Xing KX; Yeo, Natalie Jia Ying NJY; Ng, Chun Yi CY; Chioh, Florence Wen Jing FWJ; Fan, Qiao Q; Tian, Xianfeng X; Yang, Binxia B; Narayanan, Gunaseelan G; Tay, Hui Min HM; Hou, Han Wei HW; Dunn, N Ray NR; Su, Xinyi X; Cheung, Chui Ming Gemmy CMG; Cheung, Christine C
Publication Date: 2022-02-15

Variant appearance in text: rs800292
PubMed Link: 35164755
Variant Present in the following documents:
  • Main text
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: rs800292
PubMed Link: 35136347
Variant Present in the following documents:
  • Main text
  • mv-v27-757.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: CFH: V62I
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.

Genes
Kiraly, Peter P; Zupan, Andrej A; Matjašič, Alenka A; Mekjavić, Polona Jaki PJ
Publication Date: 2021-12-25

Variant appearance in text: rs800292
PubMed Link: 35052395
Variant Present in the following documents:
  • Main text
  • genes-13-00055.pdf
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Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.

Genes
Kiraly, Peter P; Zupan, Andrej A; Matjašič, Alenka A; Mekjavić, Polona Jaki PJ
Publication Date: 2021-12-25

Variant appearance in text: rs800292
PubMed Link: 35052395
Variant Present in the following documents:
  • Main text
  • genes-13-00055.pdf
View BVdb publication page