Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Disease and COL4A3[original query] |
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| Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations. Human genomics 2018 Jul 12 (1): 37. Fan Xiaowei, Ma Lifeng, Zhang Zhiying, Li Yi, Hao Meng, Zhao Zhipeng, Zhao Yiduo, Liu Fang, Liu Lijun, Luo Xingguang, Cai Peng, Li Yansong, Kang Long |
| Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population. Frontiers in pediatrics 2018 11 6 307. Varner Jennifer D, Chryst-Stangl Megan, Esezobor Christopher Imokhuede, Solarin Adaobi, Wu Guanghong, Lane Brandon, Hall Gentzon, Abeyagunawardena Asiri, Matory Ayo, Hunley Tracy E, Lin Jen Jar, Howell David, Gbadegesin Rashe |
Sequence variants associating with urinary biomarkers.
Human molecular genetics 2019 04 28 (7): 1199-1211. Benonisdottir Stefania, Kristjansson Ragnar P, Oddsson Asmundur, Steinthorsdottir Valgerdur, Mikaelsdottir Evgenia, Kehr Birte, Jensson Brynjar O, Arnadottir Gudny A, Sulem Gerald, Sveinbjornsson Gardar, Kristmundsdottir Snaedis, Ivarsdottir Erna V, Tragante Vinicius, Gunnarsson Bjarni, Runolfsdottir Hrafnhildur Linnet, Arthur Joseph G, Deaton Aimee M, Eyjolfsson Gudmundur I, Davidsson Olafur B, Asselbergs Folkert W, Hreidarsson Astradur B, Rafnar Thorunn, Thorleifsson Gudmar, Edvardsson Vidar, Sigurdsson Gunnar, Helgadottir Anna, Halldorsson Bjarni V, Masson Gisli, Holm Hilma, Onundarson Pall T, Indridason Olafur S, Benediktsson Rafn, Palsson Runolfur, Gudbjartsson Daniel F, Olafsson Isleifur, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Ka |
| Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
Journal of the American Society of Nephrology : JASN 2019 Sep . Salem Rany M, Todd Jennifer N, Sandholm Niina, Cole Joanne B, Chen Wei-Min, Andrews Darrell, Pezzolesi Marcus G, McKeigue Paul M, Hiraki Linda T, Qiu Chengxiang, Nair Viji, Di Liao Chen, Cao Jing Jing, Valo Erkka, Onengut-Gumuscu Suna, Smiles Adam M, McGurnaghan Stuart J, Haukka Jani K, Harjutsalo Valma, Brennan Eoin P, van Zuydam Natalie, Ahlqvist Emma, Doyle Ross, Ahluwalia Tarunveer S, Lajer Maria, Hughes Maria F, Park Jihwan, Skupien Jan, Spiliopoulou Athina, Liu Andrew, Menon Rajasree, Boustany-Kari Carine M, Kang Hyun M, Nelson Robert G, Klein Ronald, Klein Barbara E, Lee Kristine E, Gao Xiaoyu, Mauer Michael, Maestroni Silvia, Caramori Maria Luiza, de Boer Ian H, Miller Rachel G, Guo Jingchuan, Boright Andrew P, Tregouet David, Gyorgy Beata, Snell-Bergeon Janet K, Maahs David M, Bull Shelley B, Canty Angelo J, Palmer Colin N A, Stechemesser Lars, Paulweber Bernhard, Weitgasser Raimund, Sokolovska Jelizaveta, Rov?te Vita, P?r?gs Valdis, Prakapiene Edita, Radzeviciene Lina, Verkauskiene Rasa, Panduru Nicolae Mircea, Groop Leif C, McCarthy Mark I, Gu Harvest F, Möllsten Anna, Falhammar Henrik, Brismar Kerstin, Martin Finian, Rossing Peter, Costacou Tina, Zerbini Gianpaolo, Marre Michel, Hadjadj Samy, McKnight Amy J, Forsblom Carol, McKay Gareth, Godson Catherine, Maxwell A Peter, Kretzler Matthias, Susztak Katalin, Colhoun Helen M, Krolewski Andrzej, Paterson Andrew D, Groop Per-Henrik, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, |
| Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Molecular genetics & genomic medicine 2019 8 7 (9): e883. Yamamura Tomohiko, Nozu Kandai, Minamikawa Shogo, Horinouchi Tomoko, Sakakibara Nana, Nagano China, Aoto Yuya, Ishiko Shinya, Nakanishi Koichi, Shima Yuko, Nagase Hiroaki, Rossanti Rini, Ye Ming J, Nozu Yoshimi, Ishimori Shingo, Morisada Naoya, Kaito Hiroshi, Iijima Kazumo |
| Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : JASN 2019 May . Cameron-Christie Sophia, Wolock Charles J, Groopman Emily, Petrovski Slavé, Kamalakaran Sitharthan, Povysil Gundula, Vitsios Dimitrios, Zhang Mengqi, Fleckner Jan, March Ruth E, Gelfman Sahar, Marasa Maddalena, Li Yifu, Sanna-Cherchi Simone, Kiryluk Krzysztof, Allen Andrew S, Fellström Bengt C, Haefliger Carolina, Platt Adam, Goldstein David B, Gharavi Ali |
| An Exome Sequencing Study of 10 Families with IgA Nephropathy. Nephron 2019 Dec 1-12. Stapleton Caragh P, Kennedy Claire, Fennelly Neil K, Murray Susan L, Connaughton Dervla M, Dorman Anthony M, Doyle Brendan, Cavalleri Gianpiero L, Conlon Peter |
| Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study. Molecular genetics & genomic medicine 2020 12 9 (2): e1576. Uliana Vera, Sebastio Paola, Riva Matteo, Carli Diana, Ruberto Claudio, Bianchi Laura, Graziano Claudio, Capelli Irene, Faletra Flavio, Pillon Roberto, Mattina Teresa, Sensi Alberto, Bonatti Francesco, Percesepe Anton |
| NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. Bioscience reports 2020 12 41 (1): . Sun Liping, Zhang Xinzhou, Wang Zh |
| Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
| Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. Pediatric nephrology (Berlin, Germany) 2021 3 36 (9): 2719-2730. Zhang Yanqin, Böckhaus Jan, Wang Fang, Wang Suxia, Rubel Diana, Gross Oliver, Ding J |
| Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. Journal of the American Society of Nephrology : JASN 2022 9 34 (1): 132-144. Yuan Xiaohan, Su Qing, Wang Hui, Shi Sufang, Liu Lijun, Lv Jicheng, Wang Suxia, Zhu Li, Zhang Ho |
| The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience. Frontiers in medicine 2022 9 9 957733. ?omi? Jasmina, Riedhammer Korbinian M, Günthner Roman, Schaaf Christian W, Richthammer Patrick, Simmendinger Hannes, Kieffer Donald, Berutti Riccardo, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Putnik Jovana, Stajic Nataša, Lungu Adrian, Gross Oliver, Renders Lutz, Heemann Uwe, Braunisch Matthias C, Meitinger Thomas, Hoefele Jul |
| Variants in genes coding for collagen type IV ?-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatric nephrology (Berlin, Germany) 2022 6 38 (3): 687-695. Alge Joseph L, Bekheirnia Nasim, Willcockson Alexandra R, Qin Xiang, Scherer Steven E, Braun Michael C, Bekheirnia Mir Re |
| Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome. Kidney360 2022 4 1 (9): 936-942. Horinouchi Tomoko, Yamamura Tomohiko, Nagano China, Sakakibara Nana, Ishiko Shinya, Aoto Yuya, Rossanti Rini, Nakanishi Koichi, Shima Yuko, Morisada Naoya, Iijima Kazumoto, Nozu Kand |
| Association between COL4A3 variant rs55703767 and susceptibility to diabetic kidney disease in patients with type 2 diabetes mellitus: results from the INDEED cohort study. Chinese medical journal 2022 Feb . Li Zihan, Sun Zijun, Chang Dongyuan, Zhu Li, Chen Min, Zhao Mingh |
| Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort. Saudi journal of biological sciences 2022 11 30 (1): 103503. Khashim Alswailmi Farhan, Bokhari Khansa, Aladaileh Saleem H, A Alanezi Abdulkareem, Azam Maleeha, Ahmad Ashf |
| Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy. Genes 2021 12 13 (1): . Kiraly Peter, Zupan Andrej, Matjaši? Alenka, Mekjavi? Polona Ja |
| Polygenic risk affects the penetrance of monogenic kidney disease. medRxiv : the preprint server for health sciences 2023 5 . Atlas Khan, Ning Shang, Jordan G Nestor, Chunhua Weng, George Hripcsak, Peter C Harris, Ali G Gharavi, Krzysztof Kiryl |
| Clinical, histological and molecular characteristics of Alport syndrome in Chinese children. Journal of nephrology 2023 4 . Lanqi Zhou, Bijun Xi, Yongli Xu, Yanxinli Han, Yuan Yang, Jing Yang, Yi Wang, Liru Qiu, Yu Zhang, Jianhua Zh |
| Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population. Kidney international 2023 12 . Precil D Neves, Andreia Watanabe, Elieser H Watanabe, Amanda M Narcizo, Kelly Nunes, Antonio M Lerario, Frederico Moraes Ferreira, Lívia B Cavalcante, Janewit Wongboonsin, Denise M Malheiros, Lectícia B Jorge, Matthew G Sampsom, Irene L Noronha, Luiz F Onuch |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of clinical investigation 2024 8 . Omid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, Catalin D Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T Ho, Horia C Stanescu, Detlef Bockenhauer, Richard N Sandford, Adam P Levine, Daniel P Ga |
| Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants. medRxiv : the preprint server for health sciences 2024 6 . McKenzie Zellers, Kaushal Solanki, Kyle Retterer, Karyn M Murphy, Melissa A Kelly, H Les Kirchner, Ion Dan Bucaloiu, Tooraj Mirshahi, Bryn Moore, Alexander R Cha |
| Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience. Genes 2024 5 15 (5): . ?tefan Nicolaie Lujinschi, Bogdan Marian Sorohan, Bogdan Obri?c?, Alexandra Vrabie, Gabriela Lupu?oru, Camelia Achim, Andreea Gabriella Andronesi, Andreea Covic, Gener Isma |
| Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 2024 5 19 (1): 216. Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vai |
| Focal Segmental Glomerulosclerosis Patient Baseline Characteristics in the Sparsentan Phase 3 DUPLEX Study. Kidney international reports 2024 5 9 (4): 1020-1030. Howard Trachtman, Jai Radhakrishnan, Michelle N Rheault, Charles E Alpers, Jonathan Barratt, Hiddo J L Heerspink, Irene L Noronha, Vlado Perkovic, Brad Rovin, Hernán Trimarchi, Muh Geot Wong, Alex Mercer, Jula Inrig, William Rote, Ed Murphy, Patricia W Bedard, Sandra Roth, Stewart Bieler, Radko Kome |
| Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants. Journal of the American Society of Nephrology : JASN 2024 12 . McKenzie Zellers, Kaushal Solanki, Melissa A Kelly, Karyn M Murphy, Kyle Retterer, H Les Kirchner, Ion Dan Bucaloiu, Bryn Moore, Tooraj Mirshahi, Alexander R Cha |
| Challenging the narrative of alport syndrome spectrum: no link with cystic phenotype. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2024 12 . Marie-Sophie Pagniez, Yannis Lombardi, Victor Fages, Romain Larrue, Timothée Laboux, Clémence Gatinois, Emmanuel Letavernier, Claire Rigothier, François Glowacki, Laurent Mesnard, Thomas Robe |
| Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2025 1 . Marie-Sophie Pagniez, Victor Fages, Clémence Gatinois, Romain Larrue, Nicolas Pottier, Timothée Laboux, Rémi Lenain, Olivier Grunewald, Thomas Robert, Claire Rigothier, Laurent Mesnard, François Glowac |
- Page last reviewed:Feb 1, 2024
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