Human Genome Epidemiology Literature Finder
|
Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and ND4[original query] |
|---|
| 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 |
| [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- |
| Inherited common variants in mitochondrial DNA and invasive serous epithelial ovarian cancer risk. BMC research notes 2013 6 (1): 425. Earp Madalene A, Brooks-Wilson Angela, Cook Linda, Le N |
| 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 |
| Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease. European journal of human genetics : EJHG 2015 Jan 23 (1): 86-91. Zhang Jin, Zhang Zhi-Xia, Du Peng-Chen, Zhou Wei, Wu Su-Dong, Wang Qi-Ling, Chen Cao, Shi Qi, Chen Chen, Gao Chen, Tian Chan, Dong Xiao-Pi |
| Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. Journal of human genetics 2016 Oct . Xu Bing, Li Xiyuan, Du Miaomiao, Zhou Chao, Fang Hezhi, Lyu Jianxin, Yang Yanli |
| CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
| 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 |
| Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans. Frontiers in immunology 2019 12 10 2200. Russlies Juliane, Fähnrich Anke, Witte Mareike, Yin Junping, Benoit Sandrine, Gläser Regine, Günter Claudia, Eming Rüdiger, Erdmann Jeanette, Gola Damian, Gupta Yask, Holtsche Maike Marleen, Kern Johannes S, König Inke R, Kiritsi Dimitra, Lieb Wolfgang, Sadik Christian D, Sárdy Miklós, Schauer Franziska, van Beek Nina, Weidinger Anke, Worm Margitta, Zillikens Detlef, Schmidt Enno, Busch Hauke, Ibrahim Saleh M, Hirose Mi |
| 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 |
| 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 |
| NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia. Current topics in medicinal chemistry 2021 6 21 (11): 938-948. Ivanova Elena Mihailova, Kandilarova Snezhina Mihailova, Lukanov Tzvetelin Ivanov, Naumova Elissaveta Jordanova, Akabalieva Katerina Valentinova, Milanova Vihra Krumo |
| 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 |
| Examining the Association between Mitochondrial Genome Variation and Coronary Artery Disease. Genes 2022 3 13 (3): . Vilne Baiba, Sawant Aniket, Rudaka Iri |
| Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis. PloS one 2022 12 17 (12): e0279237. Al-Kafaji Ghada, Alwehaidah Materah Salem, Alsabbagh Manahel Mahmood, Alharbi Maram A, Bakhiet Mo |
| Randomized trial of bilateral gene therapy injection for m.11778G?>?A MT-ND4 Leber optic neuropathy. Brain : a journal of neurology 2022 11 . Newman Nancy J, Yu-Wai-Man Patrick, Subramanian Prem S, Moster Mark L, Wang An-Guor, Donahue Sean P, Leroy Bart P, Carelli Valerio, Biousse Valerie, Vignal-Clermont Catherine, Sergott Robert C, Sadun Alfredo A, Fernández Gema Rebolleda, Chwalisz Bart K, Banik Rudrani, Bazin Fabienne, Roux Michel, Cox Eric D, Taiel Magali, Sahel José-Alain, |
| Mitochondrial-nuclear epistasis underlying phenotypic variation in breast cancer pathology. Scientific reports 2022 1 12 (1): 1393. Bushel Pierre R, Ward James, Burkholder Adam, Li Jianying, Anchang Benedi |
| Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G. Scientific reports 2023 6 13 (1): 10405. Molly Smullen, Meagan N Olson, Liam F Murray, Madhusoodhanan Suresh, Guang Yan, Pepper Dawes, Nathaniel J Barton, Jivanna N Mason, Yucheng Zhang, Aria A Fernandez-Fontaine, George M Church, Diego Mastroeni, Qi Wang, Elaine T Lim, Yingleong Chan, Benjamin Readhe |
| "Mitochondrial pathogenic mutations and metabolic alterations associated with COVID-19 disease severity". Journal of medical virology 2023 2 95 (2): e28553. Kumari Diksha, Singh Yamini, Singh Sayar, Dogra Vikas, Srivastava Ashish Kumar, Srivastava Swati, Garg Iti, Bargotya Mona, Hussain Javid, Ganju Lilly, Varshney Raje |
| 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 |
| Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Frontiers in genetics 2023 2 13 917993. Giannikou Krinio, Martin Katie R, Abdel-Azim Ahmad G, Pamir Kaila J, Hougard Thomas R, Bagwe Shefali, Tang Yan, MacKeigan Jeffrey P, Kwiatkowski David J, Henske Elizabeth P, Lam Hilaire |
- Page last reviewed:Feb 1, 2024
- Content source: