Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: ACTN4[original query] |
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Genome-wide Association Studies of Retinal Vessel Tortuosity Identify Numerous Novel Loci Revealing Genes and Pathways Associated With Ocular and Cardiometabolic Diseases.
![]() Ophthalmology science 2023 5 3 (3): 100288. Tomasoni Mattia, Beyeler Michael Johannes, Vela Sofia Ortin, Mounier Ninon, Porcu Eleonora, Corre Tanguy, Krefl Daniel, Button Alexander Luke, Abouzeid Hana, Lazaros Konstantinidis, Bochud Murielle, Schlingemann Reinier, Bergin Ciara, Bergmann Sv |
Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron. Clinical practice 2005 1 99 (2): c31-6. Aucella Filippo, De Bonis Patrizia, Gatta Giuseppe, Muscarella Lucia Anna, Vigilante Mimmo, di Giorgio Giuseppe, D'Errico Michele, Zelante Leopoldo, Stallone Carmine, Bisceglia Lui |
Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. Diabetologia 2008 Jan 51 (1): 86-90. Ihalmo P, Wessman M, Kaunisto M A, Kilpikari R, Parkkonen M, Forsblom C, Holthöfer H, Groop P-H, |
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis. Nephron. Clinical practice 2009 111 (2): c87-94. Dai Shengchuan, Wang Zhaohui, Pan Xiaoxia, Chen Xiaonong, Wang Weiming, Ren Hong, Feng Qi, He John Cijiang, Han Bin, Chen N |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clinical journal of the American Society of Nephrology : CJASN 2011 May 6 (5): 1139-48. Santín Sheila, Bullich Gemma, Tazón-Vega Bárbara, García-Maset Rafael, Giménez Isabel, Silva Irene, Ruíz Patricia, Ballarín José, Torra Roser, Ars Elisab |
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney international 2013 Feb 83 (2): 316-22. Barua Moumita, Brown Elizabeth J, Charoonratana Victoria T, Genovese Giulio, Sun Hua, Pollak Martin |
Relevance of the ACTN4 gene in African-Americans with non-diabetic end-stage renal disease. American journal of nephrology 2012 36 (3): 252-60. Bostrom Meredith A, Perlegas Peter, Lu Lingyi, Hicks Pamela J, Hawkins Greg, Ng Maggie C Y, Langefeld Carl D, Freedman Barry I, Bowden Donald |
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. Clinical nephrology 2012 Jul 78 (1): 47-53. Büscher Anja K, Konrad Martin, Nagel Mato, Witzke Oliver, Kribben Andreas, Hoyer Peter F, Weber Stefan |
Mutational analysis of ACTN4, encoding a-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. Folia biologica 2013 59 (3): 110-5. Safa?íková M, Reiterová J, Safránková H, Stekrová J, Zidková A, Obeidová L, Kohoutová M, Tesa? |
Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis. Contributions to nephrology 2013 181 91-100. Zhang Qianying, Ma Jun, Xie Jingyuan, Wang Zhaohui, Zhu Bin, Hao Xu, Yang Li, Ren Hong, Chen N |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney international 2013 Jul 84 (1): 206-13. Lipska Beata S, Iatropoulos Paraskevas, Maranta Ramona, Caridi Gianluca, Ozaltin Fatih, Anarat Ali, Balat Ayse, Gellermann Jutta, Trautmann Agnes, Erdogan Ozlem, Saeed Bassam, Emre Sevinc, Bogdanovic Radovan, Azocar Marta, Balasz-Chmielewska Irena, Benetti Elisa, Caliskan Salim, Mir Sevgi, Melk Anette, Ertan Pelin, Baskin Esra, Jardim Helena, Davitaia Tinatin, Wasilewska Anna, Drozdz Dorota, Szczepanska Maria, Jankauskiene Augustina, Higuita Lina Maria Serna, Ardissino Gianluigi, Ozkaya Ozan, Kuzma-Mroczkowska Elzbieta, Soylemezoglu Oguz, Ranchin Bruno, Medynska Anna, Tkaczyk Marcin, Peco-Antic Amira, Akil Ipek, Jarmolinski Tomasz, Firszt-Adamczyk Agnieszka, Dusek Jiri, Simonetti Giacomo D, Gok Faysal, Gheissari Alaleh, Emma Francesco, Krmar Rafael T, Fischbach Michel, Printza Nikoleta, Simkova Eva, Mele Caterina, Ghiggeri Gian Marco, Schaefer Franz, |
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2014 Nov 29 (11): 2062-9. Laurin Louis-Philippe, Lu Mei, Mottl Amy K, Blyth Elizabeth R, Poulton Caroline J, Weck Karen |
Copy number increase of ACTN4 is a prognostic indicator in salivary gland carcinoma. Cancer medicine 2014 Jun 3 (3): 613-22. Watabe Yukio, Mori Taisuke, Yoshimoto Seiichi, Nomura Takeshi, Shibahara Takahiko, Yamada Tesshi, Honda Kazufu |
A three-stage genome-wide association study combining multilocus test and gene expression analysis for young-onset hypertension in Taiwan Han Chinese. American journal of hypertension 2014 Jun 27 (6): 819-27. Chiang Kuang-Mao, Yang Hsin-Chou, Liang Yu-Jen, Chen Jaw-Wen, Hwang Shiaw-Min, Ho Hung-Yun, Ting Chih-Tai, Lin Tsung-Hsien, Sheu Sheng-Hsiung, Tsai Wei-Chuan, Chen Jyh-Hong, Leu Hsin-Bang, Yin Wei-Hsian, Chiu Ting-Yu, Chen Chin-Iuan, Lin Shing-Jong, Thomas G Neil, Tomlinson Brian, Guo Youling, Gui Hong-Sheng, Sham Pak Chung, Lam Tai-Hing, Pan Wen-Ha |
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome. Annals of clinical and laboratory science 2019 7 49 (3): 330-337. Li Yongzhen, He Qingnan, Wang Ying, Dang Xiqiang, Wu Xiaochuan, Li Xiaoyan, Shuai Lanjun, Yi Zhuw |
Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.
![]() Arteriosclerosis, thrombosis, and vascular biology 2019 Dec 39 (12): 2542-2552. Veluchamy Abirami, Ballerini Lucia, Vitart Veronique, Schraut Katharina E, Kirin Mirna, Campbell Harry, Joshi Peter K, Relan Devanjali, Harris Sarah, Brown Ellie, Vaidya Suraj S, Dhillon Baljean, Zhou Kaixin, Pearson Ewan R, Hayward Caroline, Polasek Ozren, Deary Ian J, MacGillivray Thomas, Wilson James F, Trucco Emanuele, Palmer Colin N A, Doney Alexander S |
Kidney podocyte-associated gene polymorphisms affect tacrolimus concentration in pediatric patients with refractory nephrotic syndrome. The pharmacogenomics journal 2020 Jan . Mo Xiaolan, Li Jiali, Liu Yunfeng, Liao Xin, Tan Mei, Chen Yilu, He Fan, He Yanling, Li Yingjie, Huang M |
Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. Molecular medicine reports 2020 1 21 (3): 1115-1124. Tang Chunrong, Zhou Daoyuan, Tan Rongshao, Zhong Xiaoshi, Xiao Xiao, Qin Danping, Liu Yun, Hu Jianguang, Liu Y |
The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. European journal of obstetrics, gynecology, and reproductive biology 2021 Sep 266 9-14. Khaliq Olive P, Konoshita Tadashi, Moodley Jagidesa, Naicker Thajasvar |
Alpha-actinin-4 (ACTN4) gene amplification is a predictive biomarker for adjuvant chemotherapy with tegafur/uracil in stage I lung adenocarcinomas. Cancer science 2021 11 113 (3): 1002-1009. Noro Rintaro, Honda Kazufumi, Nagashima Kengo, Motoi Noriko, Kunugi Shinobu, Matsubayashi Jun, Takeuchi Susumu, Shiraishi Hideaki, Okano Tetsuya, Kashiro Ayumi, Meng Xue, Yoshida Yukihiro, Watanabe Shunichi, Usuda Jitsuo, Inoue Tatsuya, Wilber Huang, Ikeda Norihiko, Seike Masahiro, Gemma Akihiko, Kubota Kao |
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa. European journal of pediatrics 2022 Oct 181 (10): 3595-3606. Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar |
Prediction of Tacrolimus Dose/Weight-Adjusted Trough Concentration in Pediatric Refractory Nephrotic Syndrome: A Machine Learning Approach. Pharmacogenomics and personalized medicine 2022 3 15 143-155. Mo Xiaolan, Chen Xiujuan, Wang Xianggui, Zhong Xiaoli, Liang Huiying, Wei Yuanyi, Deng Houliang, Hu Rong, Zhang Tao, Chen Yilu, Gao Xia, Huang Min, Li Jia |
Illumination of the Endogenous Insulin-Regulated TBC1D4 Interactome in Human Skeletal Muscle. Diabetes 2022 2 71 (5): 906-920. Larsen Jeppe K, Larsen Magnus R, Birk Jesper B, Steenberg Dorte E, Hingst Janne R, Højlund Kurt, Chadt Alexandra, Al-Hasani Hadi, Deshmukh Atul S, Wojtaszewski Jørgen F P, Kjøbsted Rasm |
Tacrolimus pharmacokinetics in pediatric nephrotic syndrome: A combination of population pharmacokinetic modelling and machine learning approaches to improve individual prediction. Frontiers in pharmacology 2022 12 13 942129. Huang Qiongbo, Lin Xiaobin, Wang Yang, Chen Xiujuan, Zheng Wei, Zhong Xiaoli, Shang Dewei, Huang Min, Gao Xia, Deng Hui, Li Jiali, Zeng Fangling, Mo Xiaol |
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
![]() JAMA cardiology 2023 6 . Jaakko S Tyrmi, Tea Kaartokallio, A Inkeri Lokki, Tiina Jääskeläinen, Eija Kortelainen, Sanni Ruotsalainen, Juha Karjalainen, Samuli Ripatti, Anna Kivioja, Triin Laisk, Johannes Kettunen, Anneli Pouta, Katja Kivinen, Eero Kajantie, Seppo Heinonen, Juha Kere, Hannele Laivuori, |
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children. Molecular biology reports 2023 4 . Al-Azzawy Mohammed F, Al-Haggar Mohammad, ElSaid Afaf M, El-Khawaga Omali |
Differential Expression of Peripheral Circulating MicroRNA-146a Between Patients with Atherosclerotic Vulnerable Plaque and Stable Plaque. International heart journal 2023 10 64 (5): 847-855. Yenwen Song, Lei Zhang, Ye Hua |
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