Human Genome Epidemiology Literature Finder
Records 1 - 20 (of 20 Records) |
Query Trace: Disease and ND6[original query] |
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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Annals of neurology 2004 1 55 (1): 58-64. McFarland Robert, Kirby Denise M, Fowler Kerry J, Ohtake Akira, Ryan Michael T, Amor David J, Fletcher Janice M, Dixon Joanne W, Collins Felicity A, Turnbull Douglass M, Taylor Robert W, Thorburn David |
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PloS one 2009 4 (5): e5508. SanGiovanni John Paul, Arking Dan E, Iyengar Sudha K, Elashoff Michael, Clemons Traci E, Reed George F, Henning Alice K, Sivakumaran Theru A, Xu Xuming, DeWan Andrew, Agrón Elvira, Rochtchina Elena, Sue Carolyn M, Wang Jie Jin, Mitchell Paul, Hoh Josephine, Francis Peter J, Klein Michael L, Chew Emily Y, Chakravarti Aravin |
Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients. American journal of human genetics 2010 Dec 87 (6): 802-12. Kloss-Brandstätter Anita, Schäfer Georg, Erhart Gertraud, Hüttenhofer Alexander, Coassin Stefan, Seifarth Christof, Summerer Monika, Bektic Jasmin, Klocker Helmut, Kronenberg Flori |
Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly. Journal of Alzheimer's disease : JAD 2012 Jul . Tranah GJ, Nalls MA, Katzman SM, Yokoyama JS, Lam ET, Zhao Y, Mooney S, Thomas F, Newman AB, Liu Y, Cummings SR, Harris TB, Yaffe K |
[Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2012 Oct 29 (5): 519-23. Ma Yun-xia, Zhou Yon-gan, Zhang Jing-ping, Zhang Quan-bin, Liu Wei-la, Ren Cai-fen, Li Xiao- |
Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis. Journal of the neurological sciences 2014 Oct 345 (1-2): 220-3. Poursadegh Zonouzi Ahmad, Ghorbian Saeid, Abkar Morteza, Poursadegh Zonouzi Ali Akbar, Azadi A |
Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Feb 55 (2): 986-92. Jeoung Jin Wook, Seong Moon-Woo, Park Sung Sup, Kim Dong Myung, Kim Seok Hwan, Park Ki |
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. Acta ophthalmologica 2015 Oct . Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johan |
Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India. Investigative ophthalmology & visual science 2017 8 58 (10): 3923-3930. Khan Nahid Akhtar, Govindaraj Periyasamy, Soumittra Nagasamy, Sharma Sonika, Srilekha Sundaramoorthy, Ambika Selvakumar, Vanniarajan Ayyasamy, Meena Angamuthu Kanikannan, Uppin Megha S, Sundaram Challa, Bindu Parayil Sankaran, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasa |
Mitochondrial genome mutations in 13 subunits of respiratory chain complexes in Chinese Han and Mongolian hypertensive individuals. Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 2017 11 29 (7): 1090-1099. Zhao Ying, Chen Xi, Li Haide, Zhu Chao, Li Yang, Liu Yu |
Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis. Biomedical reports 2019 12 11 (6): 257-268. Alharbi Maram Atallah, Al-Kafaji Ghada, Khalaf Noureddine Ben, Messaoudi Safia Abdulsalam, Taha Safa, Daif Abdulqader, Bakhiet Mo |
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. American journal of human genetics 2019 Jan 104 (1): 112-138. Kraja Aldi T, Liu Chunyu, Fetterman Jessica L, Graff Mariaelisa, Have Christian Theil, Gu Charles, Yanek Lisa R, Feitosa Mary F, Arking Dan E, Chasman Daniel I, Young Kristin, Ligthart Symen, Hill W David, Weiss Stefan, Luan Jian'an, Giulianini Franco, Li-Gao Ruifang, Hartwig Fernando P, Lin Shiow J, Wang Lihua, Richardson Tom G, Yao Jie, Fernandez Eliana P, Ghanbari Mohsen, Wojczynski Mary K, Lee Wen-Jane, Argos Maria, Armasu Sebastian M, Barve Ruteja A, Ryan Kathleen A, An Ping, Baranski Thomas J, Bielinski Suzette J, Bowden Donald W, Broeckel Ulrich, Christensen Kaare, Chu Audrey Y, Corley Janie, Cox Simon R, Uitterlinden Andre G, Rivadeneira Fernando, Cropp Cheryl D, Daw E Warwick, van Heemst Diana, de Las Fuentes Lisa, Gao He, Tzoulaki Ioanna, Ahluwalia Tarunveer S, de Mutsert Renée, Emery Leslie S, Erzurumluoglu A Mesut, Perry James A, Fu Mao, Forouhi Nita G, Gu Zhenglong, Hai Yang, Harris Sarah E, Hemani Gibran, Hunt Steven C, Irvin Marguerite R, Jonsson Anna E, Justice Anne E, Kerrison Nicola D, Larson Nicholas B, Lin Keng-Hung, Love-Gregory Latisha D, Mathias Rasika A, Lee Joseph H, Nauck Matthias, Noordam Raymond, Ong Ken K, Pankow James, Patki Amit, Pattie Alison, Petersmann Astrid, Qi Qibin, Ribel-Madsen Rasmus, Rohde Rebecca, Sandow Kevin, Schnurr Theresia M, Sofer Tamar, Starr John M, Taylor Adele M, Teumer Alexander, Timpson Nicholas J, de Haan Hugoline G, Wang Yujie, Weeke Peter E, Williams Christine, Wu Hongsheng, Yang Wei, Zeng Donglin, Witte Daniel R, Weir Bruce S, Wareham Nicholas J, Vestergaard Henrik, Turner Stephen T, Torp-Pedersen Christian, Stergiakouli Evie, Sheu Wayne Huey-Herng, Rosendaal Frits R, Ikram M Arfan, Franco Oscar H, Ridker Paul M, Perls Thomas T, Pedersen Oluf, Nohr Ellen A, Newman Anne B, Linneberg Allan, Langenberg Claudia, Kilpeläinen Tuomas O, Kardia Sharon L R, Jørgensen Marit E, Jørgensen Torben, Sørensen Thorkild I A, Homuth Georg, Hansen Torben, Goodarzi Mark O, Deary Ian J, Christensen Cramer, Chen Yii-Der Ida, Chakravarti Aravinda, Brandslund Ivan, Bonnelykke Klaus, Taylor Kent D, Wilson James G, Rodriguez Santiago, Davies Gail, Horta Bernardo L, Thyagarajan Bharat, Rao D C, Grarup Niels, Davila-Roman Victor G, Hudson Gavin, Guo Xiuqing, Arnett Donna K, Hayward Caroline, Vaidya Dhananjay, Mook-Kanamori Dennis O, Tiwari Hemant K, Levy Daniel, Loos Ruth J F, Dehghan Abbas, Elliott Paul, Malik Afshan N, Scott Robert A, Becker Diane M, de Andrade Mariza, Province Michael A, Meigs James B, Rotter Jerome I, North Kari |
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. Mitochondrion 2020 8 54 128-132. Marotta Rosetta, Chin Judy, Chiotis Maria, Shuey Neil, Collins Steven |
Mitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases. Allergy, asthma & immunology research 2020 Sep 12 (5): 877-884. Jang Haerin, Kim Mina, Hong Jung Yeon, Cho Hyung Ju, Kim Chang Hoon, Kim Yoon Hee, Sohn Myung Hyun, Kim Kyung W |
Frequency and spectrum of MT-TT variants associated with Leber's hereditary optic neuropathy in a Chinese cohort of subjects. Mitochondrial DNA. Part B, Resources 2020 12 4 (2): 2266-2280. Lyu Yuanyuan, Xu Man, Chen Jie, Ji YanChun, Guan Min-Xin, Zhang Juanju |
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. Ophthalmic genetics 2021 4 42 (4): 440-445. Vandeputte Justine, Van Heetvelde Mattias, Van Cauwenbergh Caroline, Seneca Sara, De Baere Elfride, Leroy Bart P, De Zaeytijd Jul |
Associations of Mitochondrial Variants With Lipidomic Traits in a Chinese Cohort With Coronary Artery Disease. Frontiers in genetics 2021 12 630359. Wang Zixian, Chen Hui, Qin Min, Liu Chen, Ma Qilin, Chen Xiaoping, Zhang Ying, Lai Weihua, Zhang Xiaojuan, Zhong Shilo |
Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis. PloS one 2022 17 (2): e0263606. Al-Kafaji Ghada, Bakheit Halla F, AlAli Faisal, Fattah Mina, Alhajeri Saad, Alharbi Maram A, Daif Abdulqader, Alsabbagh Manahel Mahmood, Alwehaidah Materah Salem, Bakhiet Mo |
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis. Scientific reports 2023 3 13 (1): 4193. Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fa |
Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON). PloS one 2023 2 18 (2): e0275703. Buonfiglio Paula I, Menazzi Sebastián, Francipane Liliana, Lotersztein Vanesa, Ferreiro Verónica, Elgoyhen Ana Belén, Dalamón Vivia |
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- Page last updated:Apr 22, 2024
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