Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Disease and NPC1[original query] |
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| Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population. Neuroscience letters 2008 Dec 447 (2-3): 153-7. Erickson Robert P, Larson-Thomé Katherine, Weberg Lyndon, Szybinska Aleksandra, Mossakowska Malgorzata, Styczynska Maria, Barcikowska Maria, Kuznicki Jac |
| Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. Neurogenetics 2009 Jul 10 (3): 229-39. Fancello Tatiana, Dardis Andrea, Rosano Camillo, Tarugi Patrizia, Tappino Barbara, Zampieri Stefania, Pinotti Elisa, Corsolini Fabio, Fecarotta Simona, D'Amico Adele, Di Rocco Maja, Uziel Graziella, Calandra Sebastiano, Bembi Bruno, Filocamo Mirel |
| Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population. Journal of human genetics 2009 Dec 54 (12): 727-31. Hotta Kikuko, Nakamura Michihiro, Nakamura Takahiro, Matsuo Tomoaki, Nakata Yoshio, Kamohara Seika, Miyatake Nobuyuki, Kotani Kazuaki, Komatsu Ryoya, Itoh Naoto, Mineo Ikuo, Wada Jun, Masuzaki Hiroaki, Yoneda Masato, Nakajima Atsushi, Funahashi Tohru, Miyazaki Shigeru, Tokunaga Katsuto, Kawamoto Manabu, Ueno Takato, Hamaguchi Kazuyuki, Tanaka Kiyoji, Yamada Kentaro, Hanafusa Toshiaki, Oikawa Shinichi, Yoshimatsu Hironobu, Nakao Kazuwa, Sakata Toshiie, Matsuzawa Yuji, Kamatani Naoyuki, Nakamura Yusu |
| Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk. Journal of Alzheimer's disease : JAD 2010 21 (2): 619-25. Rodríguez-Rodríguez Eloy, Vázquez-Higuera José Luis, Sánchez-Juan Pascual, Mateo Ignacio, Pozueta Ana, Martínez-García Ana, Frank Ana, Valdivieso Fernando, Berciano José, Bullido María J, Combarros Onof |
| Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Arteriosclerosis, thrombosis, and vascular biology 2010 Aug 30 (8): 1614-20. Uronen Riikka-Liisa, Lundmark Per, Orho-Melander Marju, Jauhiainen Matti, Larsson Kristina, Siegbahn Agneta, Wallentin Lars, Zethelius Björn, Melander Olle, Syvänen Ann-Christine, Ikonen Eli |
| Interaction of functional NPC1 gene polymorphism with smoking on coronary heart disease. BMC medical genetics 2010 11 (1): 149. Ma Weiwei, Xu Jing, Wang Qianqian, Xin Ying, Zhang Lin, Zheng Xinxin, Wang Hu, Sun Kai, Hui Rutai, Huang Xiaoho |
| Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC medicine 2012 Nov 10 (1): 1. Al-Daghri NM, Cagliani R, Forni D, Alokail MS, Pozzoli U, Alkharfy KM, Sabico S, Clerici M, Sironi M |
| Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. American journal of medical genetics. Part A 2012 Nov 158A (11): 2775-80. Fu Rao, Yanjanin Nicole M, Elrick Matthew J, Ware Christopher, Lieberman Andrew P, Porter Forbes |
| Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders. PloS one 2013 8 (12): e82879. Zech Michael, Nübling Georg, Castrop Florian, Jochim Angela, Schulte Eva C, Mollenhauer Brit, Lichtner Peter, Peters Annette, Gieger Christian, Marquardt Thorsten, Vanier Marie T, Latour Philippe, Klünemann Hans, Trenkwalder Claudia, Diehl-Schmid Janine, Perneczky Robert, Meitinger Thomas, Oexle Konrad, Haslinger Bernhard, Lorenzl Stefan, Winkelmann Julia |
| NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. Journal of neurology 2015 Sep . Synofzik Matthis, Harmuth Florian, Stampfer Miriam, Müller Vom Hagen Jennifer, Schöls Ludger, Bauer Pet |
| Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes. Journal of diabetes and obesity 0 2 (1): . Garver William S, de la Torre Lesley, Brennan Matthew C, Luo Li, Jelinek David, Castillo Joseph J, Meyre David, Orlando Robert A, Heidenreich Randall A, Rayburn William |
| High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar . Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes |
| Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity. Diabetes 2017 Jan . Liu Ruixin, Zou Yaoyu, Hong Jie, Cao Min, Cui Bin, Zhang Huiwen, Chen Maopei, Shi Juan, Ning Tinglu, Zhao Shaoqian, Liu Wen, Xiong Hui, Wei Cuijie, Qiu Zhengqing, Gu Weiqiong, Zhang Yifei, Li Wanyu, Miao Lin, Sun Yingkai, Yang Minglan, Wang Rui, Ma Qinyun, Xu Min, Xu Yu, Wang Tiange, Chan Kei-Hang Katie, Zuo Xianbo, Chen Haoyan, Qi Lu, Lai Shenghan, Duan Shumin, Song Baoliang, Bi Yufang, Liu Simin, Wang Weiqing, Ning Guang, Wang Jiq |
| Association between the rs1805081 polymorphism of Niemann-Pick type C1 gene and cardiovascular disease in a sample of an Iranian population. Biomedical reports 2017 Jan 6 (1): 83-88. Afzali Masoumeh, Hashemi Mohammad, Tabatabaei Seyed Payman, Fakheri Kourosh Tirgar, Nakhaee Alire |
| Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia. Orphanet journal of rare diseases 2018 6 13 (1): 91. Johnen Andreas, Pawlowski Matthias, Duning Thom |
| Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C. Biomedical reports 2018 6 9 (1): 65-73. Masserrat Abbas, Sharifpanah Fatemeh, Akbari Leila, Tonekaboni Seyed Hasan, Karimzadeh Parvaneh, Asharafi Mahmood Reza, Mazouei Safoura, Sauer Heinrich, Houshmand Masso |
| Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. Molecular neurobiology 2019 3 56 (9): 6426-6435. Polese-Bonatto Márcia, Bock Hugo, Farias Ana Carolina S, Mergener Rafaella, Matte Maria Cristina, Gil Mirela S, Nepomuceno Felipe, Souza Fernanda T S, Gus Rejane, Giugliani Roberto, Saraiva-Pereira Maria Lui |
| Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. Neurobiology of aging 2020 Apr . Ouled Amar Bencheikh Bouchra, Senkevich Konstantin, Rudakou Uladzislau, Yu Eric, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Espay Alberto J, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Rouleau Guy A, Alcalay Roy N, Fon Edward A, Gan-Or Z |
| Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Molecular genetics and metabolism 2020 2 129 (4): 292-302. Sidhu Rohini, Kell Pamela, Dietzen Dennis J, Farhat Nicole Y, Do An Ngoc Dang, Porter Forbes D, Berry-Kravis Elizabeth, Vite Charles H, Reunert Janine, Marquardt Thorsten, Giugliani Roberto, Lourenço Charles M, Bodamer Olaf, Wang Raymond Y, Plummer Ellen, Schaffer Jean E, Ory Daniel S, Jiang Xunti |
| New variants in Spanish Niemann-Pick type c disease patients. Molecular biology reports 2020 2 47 (3): 2085-2095. López de Frutos Laura, Cebolla Jorge J, Aldámiz-Echevarría Luis, de la Vega Ángela, Stanescu Sinziana, Lahoz Carlos, Irún Pilar, Giraldo Pil |
| Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. Scientific reports 2020 11 10 (1): 18787. Chiorean Andreea, Garver William S, Meyre Dav |
| Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition. Journal of Alzheimer's disease : JAD 2021 Aug . Sorrentino Federica, Arighi Andrea, Serpente Maria, Arosio Beatrice, Arcaro Marina, Visconte Caterina, Rotondo Emanuela, Vimercati Roberto, Ferri Evelyn, Fumagalli Giorgio G, Pietroboni Anna M, Carandini Tiziana, Scarpini Elio, Fenoglio Chiara, Galimberti Danie |
| Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. The Journal of pediatrics 2021 5 236 124-130. Hegarty Robert, Gibson Philippa, Sambrotta Melissa, Strautnieks Sandra, Foskett Pierre, Ellard Sian, Baptista Julia, Lillis Suzanne, Bansal Sanjay, Vara Roshni, Dhawan Anil, Grammatikopoulos Tassos, Thompson Richard |
| Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD). Journal of clinical medicine 2021 10 10 (20): . Dardis Andrea, Pavan Eleonora, Fabris Martina, Da Riol Rosalia Maria, Sechi Annalisa, Fiumara Agata, Santoro Lucia, Ormazabal Maximiliano, Milanic Romina, Zampieri Stefania, Biasizzo Jessica, Scarpa Mauriz |
| Variants in the Niemann-pick type C genes are not associated with Alzheimer's disease: a large case-control study in the Chinese population. Neurobiology of aging 2022 Aug 116 49-54. Xiao Xuewen, Liao Xinxin, Zhou Yafang, Weng Ling, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Bi Xiangyun, Xu Tianyan, Zhu Yuan, Yang Qijie, Zhang Sizhe, Hao Xiaoli, Liu Yingzi, Zhang Weiwei, Li Jinchen, Shen Lu, Jiao B |
| NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts. Neurobiology of aging 2023 4 . Somerville Emma N, Krohn Lynne, Yu Eric, Rudakou Uladzislau, Senkevich Konstantin, Ruskey Jennifer A, Asayesh Farnaz, Ahmad Jamil, Spiegelman Dan, Dauvilliers Yves, Arnulf Isabelle, Hu Michele T M, Montplaisir Jacques Y, Gagnon Jean-François, Desautels Alex, Ibrahim Abubaker, Stefani Ambra, Högl Birgit, Gigli Gian Luigi, Valente Mariarosaria, Janes Francesco, Bernardini Andrea, Dusek Petr, Sonka Karel, Kemlink David, Plazzi Giuseppe, Antelmi Elena, Biscarini Francesco, Mollenhauer Brit, Trenkwalder Claudia, Sixel-Doring Friederike, Figorilli Michela, Puligheddu Monica, De Cock Valerie Cochen, Oertel Wolfgang, Janzen Annette, Ferini-Strambi Luigi, Heibreder Anna, Monaca Christelle Charley, Abril Beatriz, Dijkstra Femke, Viaene Mineke, Boeve Bradley F, Postuma Ronald B, Rouleau Guy A, Gan-Or Z |
| Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland. Polish archives of internal medicine 2023 1 . Toto?-?ura?ska Justyna, Wo?kow Pawe?, Kapusta Maria, Wójcik Ma?gorzata, Starzyk Jerzy, Kawalec Ewa, Idzior-Walu? Barbara, Walu?-Miarka Ma?gorza |
| An integrative approach to identifying NPC1 as a susceptibility gene for gestational diabetes mellitus. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2025 1 38 (1): 2445665. Yuping Shan, Hong Hu, Anning Yang, Wendi Zhao, Yijing C |
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