Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: CFHR5[original query] |
---|
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). Journal of medical genetics 2006 Jul 43 (7): 582-9. Abrera-Abeleda M A, Nishimura C, Smith J L H, Sethi S, McRae J L, Murphy B F, Silvestri G, Skerka C, Józsi M, Zipfel P F, Hageman G S, Smith R J |
Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. Molecular immunology 2007 Mar 44 (7): 1704-8. Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris |
The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC medical genetics 2008 9 (1): 51. Zhang Hong, Morrison Margaux A, Dewan Andy, Adams Scott, Andreoli Michael, Huynh Nancy, Regan Maureen, Brown Alison, Miller Joan W, Kim Ivana K, Hoh Josephine, Deangelis Margaret |
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. Molecular vision 2009 15 731-6. Narendra Umadevi, Pauer Gayle J T, Hagstrom Stephanie |
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Human mutation 2010 Jun 31 (6): E1445-60. Maga Tara K, Nishimura Carla J, Weaver Amy E, Frees Kathy L, Smith Richard J |
Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. Human genomics 2011 Jul 5 (5): 420-40. Hageman Gregory S, Gehrs Karen, Lejnine Serguei, Bansal Aruna T, Deangelis Margaret M, Guymer Robyn H, Baird Paul N, Allikmets Rando, Deciu Cosmin, Oeth Paul, Perlee Lorah |
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS genetics 2011 May 7 (5): e1002079. Zhao Jian, Wu Hui, Khosravi Melanie, Cui Huijuan, Qian Xiaoxia, Kelly Jennifer A, Kaufman Kenneth M, Langefeld Carl D, Williams Adrienne H, Comeau Mary E, Ziegler Julie T, Marion Miranda C, Adler Adam, Glenn Stuart B, Alarcón-Riquelme Marta E, , , Pons-Estel Bernardo A, Harley John B, Bae Sang-Cheol, Bang So-Young, Cho Soo-Kyung, Jacob Chaim O, Vyse Timothy J, Niewold Timothy B, Gaffney Patrick M, Moser Kathy L, Kimberly Robert P, Edberg Jeffrey C, Brown Elizabeth E, Alarcon Graciela S, Petri Michelle A, Ramsey-Goldman Rosalind, Vilá Luis M, Reveille John D, James Judith A, Gilkeson Gary S, Kamen Diane L, Freedman Barry I, Anaya Juan-Manuel, Merrill Joan T, Criswell Lindsey A, Scofield R Hal, Stevens Anne M, Guthridge Joel M, Chang Deh-Ming, Song Yeong Wook, Park Ji Ah, Lee Eun Young, Boackle Susan A, Grossman Jennifer M, Hahn Bevra H, Goodship Timothy H J, Cantor Rita M, Yu Chack-Yung, Shen Nan, Tsao Betty |
Germline variation in complement genes and event-free survival in follicular and diffuse large B-cell lymphoma. American journal of hematology 2012 Sep 87 (9): 880-5. Charbonneau Bridget, Maurer Matthew J, Fredericksen Zachary S, Zent Clive S, Link Brian K, Novak Anne J, Ansell Stephen M, Weiner George J, Wang Alice H, Witzig Thomas E, Dogan Ahmet, Slager Susan L, Habermann Thomas M, Cerhan James |
A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy. PloS one 2012 7 (2): 2. Papagregoriou G, Erguler K, Dweep H, Voskarides K, Koupepidou P, Athanasiou Y, Pierides A, Gretz N, Felekkis KN, Deltas C |
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatric nephrology (Berlin, Germany) 2012 Apr 27 (4): 675-9. Voskarides Konstantinos, Arsali Maria, Athanasiou Yiannis, Elia Avraam, Pierides Alkis, Deltas Constantin |
Inclusion of genotype with fundus phenotype improves accuracy of predicting choroidal neovascularization and geographic atrophy. Ophthalmology 2013 Sep 120 (9): 1880-92. Perlee Lorah T, Bansal Aruna T, Gehrs Karen, Heier Jeffrey S, Csaky Karl, Allikmets Rando, Oeth Paul, Paladino Toni, Farkas Daniel H, Rawlings P Lyle, Hageman Gregory |
Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
A novel, multiplexed targeted mass spectrometry assay for quantification of complement factor H (CFH) variants and CFH-related proteins 1-5 in human plasma. Proteomics 2016 Sep . Zhang Pingbo, Zhu Min, Geng-Spyropoulos Minghui, Shardell Michelle, Gonzalez-Freire Marta, Gudnason Vilmundur, Eiriksdottir Gudny, Schaumberg Debra, Van Eyk Jennifer E, Ferrucci Luigi, Semba Richard |
Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy. Journal of the American Society of Nephrology : JASN 2016 Jan . Zhai Ya-Ling, Meng Si-Jun, Zhu Li, Shi Su-Fang, Wang Su-Xia, Liu Li-Jun, Lv Ji-Cheng, Yu Feng, Zhao Ming-Hui, Zhang Ho |
[Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2017 8 55 (8): 624-627. Yi C L, Zhao F, Qiu H Z, Wang L M, Huang J, Nie X J, Yu Z |
Outcome of membranoproliferative glomerulonephritis and C3-glomerulopathy in children and adolescents. Pediatric nephrology (Berlin, Germany) 2018 9 33 (12): 2289-2298. Holle Johannes, Berenberg-Goßler Lena, Wu Kaiyin, Beringer Ortraud, Kropp Florian, Müller Dominik, Thumfart Jul |
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. Journal of immunology (Baltimore, Md. : 1950) 2018 3 200 (7): 2464-2478. Osborne Amy J, Breno Matteo, Borsa Nicolo Ghiringhelli, Bu Fengxiao, Frémeaux-Bacchi Véronique, Gale Daniel P, van den Heuvel Lambertus P, Kavanagh David, Noris Marina, Pinto Sheila, Rallapalli Pavithra M, Remuzzi Giuseppe, Rodríguez de Cordoba Santiago, Ruiz Angela, Smith Richard J H, Vieira-Martins Paula, Volokhina Elena, Wilson Valerie, Goodship Timothy H J, Perkins Stephen |
Copy number variation in the susceptibility to systemic lupus erythematosus. PloS one 2018 13 (11): e0206683. Barbosa Fernanda Bueno, Simioni Milena, Wiezel Cláudia Emília Vieira, Torres Fábio Rossi, Molck Miriam Coelho, Bonilla Melvin M, de Araujo Tânia Kawasaki, Donadi Eduardo Antônio, Gil-da-Silva-Lopes Vera Lúcia, Lemos Bernardo, Simões Aguinaldo Lu |
Enabling genome-wide association testing with multiple diseases and no healthy controls. Gene 2018 10 684 118-123. Tom Jennifer, Chang Diana, Wuster Art, Mukhyala Kiran, Cuenco Karen, Cowgill Amy, Vogel Jan, Reeder Jens, Yaspan Brian, Hunkapiller Julie, Brauer Matt, Behrens Tim, Forrest William, Bhangale Tush |
[Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
Macular retinal thickness differs markedly in age-related macular degeneration driven by risk polymorphisms on chromosomes 1 and 10. Scientific reports 2020 12 10 (1): 21093. Zouache Moussa A, Bennion Alex, Hageman Jill L, Pappas Christian, Richards Burt T, Hageman Gregory |
Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci. Human genomics 2021 9 15 (1): 60. Pappas Chris M, Zouache Moussa A, Matthews Stacie, Faust Caitlin D, Hageman Jill L, Williams Brandi L, Richards Burt T, Hageman Gregory |
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
American journal of human genetics 2021 7 108 (8): 1367-1384. Lorés-Motta Laura, van Beek Anna E, Willems Esther, Zandstra Judith, van Mierlo Gerard, Einhaus Alfred, Mary Jean-Luc, Stucki Corinne, Bakker Bjorn, Hoyng Carel B, Fauser Sascha, Clark Simon J, de Jonge Marien I, Nogoceke Everson, Koertvely Elod, Jongerius Ilse, Kuijpers Taco W, den Hollander Anneke |
Characterization of West African Crystalline Macular Dystrophy in the Ghanaian Population. Ophthalmology. Retina 2022 3 6 (8): 723-731. Amoaku Winfried M, Sampalli Amrit, Silvestri Vittorio, Cushley Laura N, Akafo Stephen, Amissah-Arthur Kwesi N, Lartey Seth, Hageman Courtney N, Hubbard William C, Pappas Chris M, Zouache Moussa A, Stevenson Michael, Hageman Gregory S, Silvestri Giuliana, |
Clinical characteristics of early-onset paediatric systemic lupus erythematosus in a single centre in China. Rheumatology (Oxford, England) 2023 2 . Hou Yipei, Wang Li, Luo Chong, Tang Wenjing, Dai Rongxin, An Yunfei, Tang Xuem |
Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study. International urology and nephrology 2023 10 . Feng Xu, Changming Zhang, Mingchao Zhang, Xiaodong Zhu, Shuiqin Cheng, Zhen Cheng, Caihong Zeng, Song Jia |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: