Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 52 Records) |
Query Trace: COL4A4[original query] |
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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent. PloS one 2018 13 (6): e0199178. Lucas Sionne E M, Zhou Tiger, Blackburn Nicholas B, Mills Richard A, Ellis Jonathan, Leo Paul, Souzeau Emmanuelle, Ridge Bronwyn, Charlesworth Jac C, Lindsay Richard, Craig Jamie E, Burdon Kathryn |
Genotype and Outcome After Kidney Transplantation in Alport Syndrome. Kidney international reports 2018 6 3 (3): 652-660. Gillion Valentine, Dahan Karin, Cosyns Jean-Pierre, Hilbert Pascale, Jadoul Michel, Goffin Eric, Godefroid Nathalie, De Meyer Martine, Mourad Michel, Pirson Yves, Kanaan Na |
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans. Arthritis & rheumatology (Hoboken, N.J.) 2018 May . Gourh Pravitt, Remmers Elaine F, Boyden Steven E, Alexander Theresa, Morgan Nadia D, Shah Ami A, Mayes Maureen D, Doumatey Ayo, Bentley Amy R, Shriner Daniel, Domsic Robyn T, Medsger Thomas A, Steen Virginia D, Ramos Paula S, Silver Richard M, Korman Benjamin, Varga John, Schiopu Elena, Khanna Dinesh, Hsu Vivien, Gordon Jessica K, Saketkoo Lesley Ann, Gladue Heather, Kron Brynn, Criswell Lindsey A, Derk Chris T, Bridges S Louis, Shanmugam Victoria K, Kolstad Kathleen D, Chung Lorinda, Jan Reem, Bernstein Elana J, Goldberg Avram, Trojanowski Marcin, Kafaja Suzanne, Maksimowicz-McKinnon Kathleen M, Mullikin James C, Adeyemo Adebowale, Rotimi Charles, Boin Francesco, Kastner Daniel L, Wigley Fredrick |
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 |
Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. International ophthalmology 2019 May . Sargazi Saman, Moudi Mahdiyeh, Heidari Nia Milad, Saravani Ramin, Malek Raisi Ham |
Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population. Journal of ophthalmic & vision research 0 15 (3): 299-307. Yari Davood, Ehsanbakhsh Zohreh, Validad Mohammad-Hosein, Langroudi Farzaneh Hasani |
Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020 4 31 (4): 264-269. Eroz Recep, Damar ?brahim H, K?l?çaslan Ond |
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 |
Association of Collagen Gene (COL4A3) rs55703767 Variant With Response to Riboflavin/Ultraviolet A-Induced Collagen Cross-Linking in Female Patients With Keratoconus. Cornea 2020 Oct . Abdelghany Ahmed A, Toraih Eman A, Abdelaziz Eman Z, El-Sherbeeny Nagla A, Fawzy Manal |
Rare genetic variants in patients with cervical artery dissection. European stroke journal 2020 1 4 (4): 355-362. Traenka Christopher, Kloss Manja, Strom Tim, Lyrer Philippe, Brandt Tobias, Bonati Leo H, Grond-Ginsbach Caspar, Engelter Stef |
mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing. Scientific reports 2021 9 11 (1): 18097. Wang Xiaoyuan, Zhang Yanqin, Ding Jie, Wang Fa |
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 |
Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population. BMC pulmonary medicine 2022 May 22 (1): 178. Tang Lifeng, Zhong Xuemei, Gong Hui, Tuerxun Maimaitiaili, Ma Tao, Ren Jie, Xie Chengxin, Zheng Aifang, Abudureheman Zulipikaer, Abudukadeer Ayiguzali, Aini Paierda, Yilamujiang Subinuer, Li |
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic. Delaware journal of public health 2022 5 7 (5): 24-27. Kirwin Susan M, Robbins Katherine M, Vinette Kathleen M B, Hirata Lee, Gripp Karen W, Funanage Vicky |
Identification of Candidate Genes for Pigmentation in Camels Using Genotyping-by-Sequencing. Animals : an open access journal from MDPI 2022 5 12 (9): . Bitaraf Sani Morteza, Zare Harofte Javad, Banabazi Mohammad Hossein, Faraz Asim, Esmaeilkhanian Saeid, Naderi Ali Shafei, Salim Nader, Teimoori Abbas, Bitaraf Ahmad, Zadehrahmani Mohammad, Burger Pamela Anna, Asadzadeh Nader, Silawi Mohammad, Taghipour Sheshdeh Afsaneh, Mohammad Nazari Behrouz, Faghihi Mohammad Ali, Roudbari Zah |
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 |
GWAS of Hematuria. Clinical journal of the American Society of Nephrology : CJASN 2022 4 17 (5): 672-683. Gagliano Taliun Sarah A, Sulem Patrick, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Stefansson Kari, Paterson Andrew D, Barua Moumi |
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing. Journal of ophthalmology 2022 2 2022 9991910. Chen Binbin, Yu Xiaoning, Zhang Xin, Yang Hao, Cui Yilei, Shentu Xingch |
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 |
Whole exome sequence analysis in 51?624 participants identifies novel genes and variants associated with refractive error and myopia.
Human molecular genetics 2022 1 31 (11): 1909-1919. Guggenheim Jeremy A, Clark Rosie, Cui Jiangtian, Terry Louise, Patasova Karina, Haarman Annechien E G, Musolf Anthony M, Verhoeven Virginie J M, Klaver Caroline C W, Bailey-Wilson Joan E, Hysi Pirro G, Williams Cathy, , |
[Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1150-1154. Bingbing Yang, Fengxun Liu, Lanlan Zou, Xiaoling Xue, Jinhong Mi |
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 |
CR1 variants contribute to FSGS susceptibility across multiple populations. medRxiv : the preprint server for health sciences 2023 12 . Rostislav Skitchenko, Zora Modrusan, Alexander Loboda, Jeffrey B Kopp, Cheryl A Winkler, Alexey Sergushichev, Namrata Gupta, Christine Stevens, Mark J Daly, Andrey Shaw, Mykyta Artom |
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. Genes 2023 10 14 (10): . Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Ma |
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- Page last updated:Mar 25, 2024
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