Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 53 Records) |
Query Trace: NPC1[original query] |
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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 |
Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling. Physiological genomics 2015 Jun 47 (6): 225-31. Mariman Edwin C M, Bouwman Freek G, Aller Erik E J G, van Baak Marleen A, Wang Pi |
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 |
Physical activity and genetic predisposition to obesity in a multiethnic longitudinal study. Scientific reports 2016 6 18672. Reddon Hudson, Gerstein Hertzel C, Engert James C, Mohan Viswanathan, Bosch Jackie, Desai Dipika, Bailey Swneke D, Diaz Rafael, Yusuf Salim, Anand Sonia S, Meyre Dav |
The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways. American journal of physiology. Endocrinology and metabolism 2017 08 313 (2): E183-E194. Castillo Joseph J, Jelinek David, Wei Hao, Gannon Nicholas P, Vaughan Roger A, Horwood L John, Meaney F John, Garcia-Smith Randi, Trujillo Kristina A, Heidenreich Randall A, Meyre David, Orlando Robert A, LeBoeuf Renee C, Garver William |
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 |
Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study. BMC medical genetics 2018 11 19 (1): 203. Chathoth Shahanas, Ismail Mona H, Vatte Chittibabu, Cyrus Cyril, Al Ali Zhara, Ahmed Khandaker Ahtesham, Acharya Sadananda, Al Barqi Aisha Mohammed, Al Ali Ame |
Screening for Niemann-Pick type C disease in neurodegenerative diseases. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 6 68 266-267. Boenzi Sara, Dardis Andrea, Russo Paola, Bellofatto Marta, Imbriglio Tiziana, Fico Tommasina, De Michele Giuseppe, De Rosa An |
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 |
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clinical genetics 2019 1 95 (4): 537-539. Mahmoud Iman G, Elmonem Mohamed A, Elkhateeb Nour M, Elnaggar Walaa, Sobhi Ahmed, Girgis Marian Y, Kamel Mona, Shaheen Yara, Samaha Mona, Ramadan Areef, Zaki Maha S, El-Hawary Bahaa, Hassan Sawsan A, Khalifa Iman A, Mossad Fawzya, Al-Menabawy Nihal M, Zielke Susanne, Gleeson Joseph G, Rolfs Arndt, Selim Laila |
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 |
An Autophagy-Related Gene Signature Associated With Clinical Prognosis and Immune Microenvironment in Gliomas. Frontiers in oncology 2020 10 571189. Xu Yang, Li Renpeng, Li Xiaoxia, Dong Naijun, Wu Di, Hou Lin, Yin Kan, Zhao Chunh |
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 of SLC2A10 may be Linked to Poor Response to Metformin. Journal of the Endocrine Society 2022 Aug 6 (8): bvac092. Paz-Pacheco Elizabeth, Nevado Jose B, Cutiongco-de la Paz Eva Maria C, Jasul Gabriel V, Aman Aimee Yvonne Criselle L, Ribaya Elizabeth Laurize A, Francisco Mark David G, Guanzon Ma Luz Vicenta V, Uyking-Naranjo May L, Añonuevo-Cruz Ma Cecille S, Maningat Maria Patricia Deanna D, Jaring Cristina V, Nacpil-Dominguez Paulette D, Pala-Mohamad Aniza B, Canto Abigail U, Quisumbing John Paul M, Lat Annabelle Marie M, Bernardo Diane Carla C, Mansibang Noemie Marie M, Calpito Karell Jo Angelique C, Ribaya Vincent Sean D, Ferrer Julius Patrick Y, Biwang Jessica H, Melegrito Jodelyn B, Deguit Christian Deo T, Panerio Carlos Emmanuel |
Genetics of progressive supranuclear palsy in a Chinese population. Neurobiology of disease 2022 Jul 172 105819. Xiao Xuewen, Yang Qijie, Wen Yafei, Jiao Bin, Liao Xinxin, Zhou Yafang, Weng Ling, Liu Hui, Xu Tianyan, Zhu Yuan, Guo Lina, Zhou Lu, Wang Xin, Liu Xixi, Bi Xiangyun, Liu Yingzi, Zhang Sizhe, Zhang Weiwei, Li Jinchen, Tang Beisha, Shen |
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 |
Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death. Frontiers in genetics 2022 4 13 869859. Zhao Wenfeng, Zhang Qing, Wang Jiawen, Yu Huan, Zhen Xiaoyuan, Li Lijuan, Qu Yan, He Yan, Zhang Jianhua, Li Chengtao, Zhang Suhua, Luo Bin, Huang Jiang, Gao Yuzh |
The Potential Mechanism of Cancer Patients Appearing More Vulnerable to SARS-CoV-2 and Poor Outcomes: A Pan-Cancer Bioinformatics Analysis. Frontiers in immunology 2022 1 12 804387. Huang Xinwei, Liang Huazheng, Zhang Hong, Tian Li, Cong Peilin, Wu Tingmei, Zhang Qian, Gao Xiaofei, Li Wanrong, Chen Aiwen, Zhang Yuxin, Dong Qianyu, Wan Hanxi, He Mengfan, Dai Danqing, Li Zhen, Xiong Li |
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 |
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 2023 12 . Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zha |
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 |
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- Page last updated:Apr 29, 2024
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