Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 72 Records) |
Query Trace: COL4A3[original query] |
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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 |
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases. Frontiers in medicine 2020 12 7 580376. Mastrangelo Antonio, Giani Marisa, Groppali Elena, Castorina Pierangela, Soldà Giulia, Robusto Michela, Fallerini Chiara, Bruttini Mirella, Renieri Alessandra, Montini Giovan |
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 |
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 |
Preterm birth and genitourinary tract infections: assessing gene-environment interaction. Pediatric research 2020 10 90 (3): 678-683. Elias Dario, Gimenez Lucas, Poletta Fernando, Campaña Hebe, Gili Juan, Ratowiecki Julia, Pawluk Mariela, Rittler Monica, Santos Maria R, Uranga Rocio, Heisecke Silvina L, Cosentino Viviana, Saleme Cesar, Gadow Enrique, Krupitzki Hugo, Camelo Jorge S Lop |
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 |
Quantitative Optical Coherence Tomography Angiography Biomarkers for Alport Syndrome. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2021 9 245 (1): 41-48. Cunha Ana Maria, Teixeira Daniela, Cabral Diogo, Estrela-Silva Sérgio, Falcão-Reis Fernando, Carneiro Ânge |
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 |
COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency. Journal of perinatal medicine 2021 2 49 (5): 553-558. Alves Ana Paula V D, Freitas Amanda B, Levi José Eduardo, Amorim Filho Antonio G, Franco Lucas A M, Hoshida Mara Sandra, Patiño Elizabeth G, Francisco Rossana P V, Carvalho Mario Henrique |
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 |
Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population. Journal of community genetics 2022 8 13 (6): 557-565. Elias Dario E, Santos Maria R, Campaña Hebe, Poletta Fernando A, Heisecke Silvina L, Gili Juan A, Ratowiecki Julia, Cosentino Viviana, Uranga Rocio, Málaga Diana Rojas, Netto Alice Brinckmann Oliveira, Brusius-Facchin Ana Carolina, Saleme César, Rittler Mónica, Krupitzki Hugo B, Camelo Jorge S Lopez, Gimenez Lucas |
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 |
Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy. Ophthalmology 2022 Apr . Mori Yuki, Miyake Masahiro, Hosoda Yoshikatsu, Miki Akiko, Takahashi Ayako, Muraoka Yuki, Miyata Manabu, Sato Takehiro, Tamura Hiroshi, Ooto Sotaro, Yamada Ryo, Yamashiro Kenji, Nakamura Makoto, Tajima Atsushi, Nagasaki Masao, Honda Shigeru, Tsujikawa Akita |
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 |
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 |
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2022 2 32 (3): 798-805. Almokali Khamisa, Alyami Ali, Ajeebi Abdulaziz, Almutairi Turki, Aldriwesh Mar |
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 |
[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 |
A five-collagen-based risk model in lung adenocarcinoma: prognostic significance and immune landscape. Frontiers in oncology 2023 7 13 1180723. Lingjun Dong, Linhai Fu, Ting Zhu, Yuanlin Wu, Zhupeng Li, Jianyi Ding, Jiandong Zhang, Xiang Wang, Junjun Zhao, Guangmao |
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 |
Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia. Hematology (Amsterdam, Netherlands) 2023 3 28 (1): 2187155. Hantaweepant Chattree, Suktitipat Bhoom, Pithukpakorn Manop, Chinthammitr Yingyong, Limwongse Chanin, Tansiri Nawaporn, Sawatnatee Surasak, Takpradit Chayamon, Rotchanapanya Wannaphorn, Pongudom Saranya, Charoenprasert Kanyaporn, Paiboonsukwong Kittiphong, Thamprasert Wichuda, Nolwachai Narumol, Rattanasawat Wanlapa, Sae-Aeng Busakorn, Khorwanichakij Nisachon, Saetow Putchong, Saengboon Supawee, Kamjornpreecha Krittichat, Pholmoo Wikanda, Dujjawan Boonyanuch, Siritanaratkul Noppad |
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 |
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- Page last updated:Mar 25, 2024
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