Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: NPC1: 3011C>T; Ser1004Leu
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: NPC1: 3011C>T; Ser1004Leu; rs150334966
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
International Journal Of Molecular Sciences
Völkner, Christin C; Liedtke, Maik M; Untucht, Robert R; Hermann, Andreas A; Frech, Moritz J MJ
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Neurobiology Of Aging
Ouled Amar Bencheikh, Bouchra B; Senkevich, Konstantin K; Rudakou, Uladzislau U; Yu, Eric E; Mufti, Kheireddin K; Ruskey, Jennifer A JA; Asayesh, Farnaz F; Laurent, Sandra B SB; Spiegelman, Dan D; Fahn, Stanley S; Waters, Cheryl C; Monchi, Oury O; Dauvilliers, Yves Y; Espay, Alberto J AJ; Dupré, Nicolas N; Greenbaum, Lior L; Hassin-Baer, Sharon S; Rouleau, Guy A GA; Alcalay, Roy N RN; Fon, Edward A EA; Gan-Or, Ziv Z
Publication Date: 2020-09
Variant appearance in text: NPC1: Ser1004Leu; rs150334966
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: NPC1: S1004L; rs150334966
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Zhang, Xiaoling X; Zhu, Congcong C; Beecham, Gary G; Vardarajan, Badri N BN; Ma, Yiyi Y; Lancour, Daniel D; Farrell, John J JJ; Chung, Jaeyoon J; , ; Mayeux, Richard R; Haines, Jonathan L JL; Schellenberg, Gerard D GD; Pericak-Vance, Margaret A MA; Lunetta, Kathryn L KL; Farrer, Lindsay A LA
Normalization of Hepatic Homeostasis in the Npc1 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
The Journal Of Biological Chemistry
Munkacsi, Andrew B AB; Hammond, Natalie N; Schneider, Remy T RT; Senanayake, Dinindu S DS; Higaki, Katsumi K; Lagutin, Kirill K; Bloor, Stephen J SJ; Ory, Daniel S DS; Maue, Robert A RA; Chen, Fannie W FW; Hernandez-Ono, Antonio A; Dahlson, Nicole N; Repa, Joyce J JJ; Ginsberg, Henry N HN; Ioannou, Yiannis A YA; Sturley, Stephen L SL
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
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01
Variant appearance in text: NPC1: 3011C>T; S1004L; rs150334966
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Plos One
Zech, Michael M; Nübling, Georg G; Castrop, Florian F; Jochim, Angela A; Schulte, Eva C EC; Mollenhauer, Brit B; Lichtner, Peter P; Peters, Annette A; Gieger, Christian C; Marquardt, Thorsten T; Vanier, Marie T MT; Latour, Philippe P; Klünemann, Hans H; Trenkwalder, Claudia C; Diehl-Schmid, Janine J; Perneczky, Robert R; Meitinger, Thomas T; Oexle, Konrad K; Haslinger, Bernhard B; Lorenzl, Stefan S; Winkelmann, Juliane J
Publication Date: 2013
Variant appearance in text: NPC1: 3011C>T; Ser1004Leu; rs150334966
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
American Journal Of Human Genetics
Sun, X X; Marks, D L DL; Park, W D WD; Wheatley, C L CL; Puri, V V; O'Brien, J F JF; Kraft, D L DL; Lundquist, P A PA; Patterson, M C MC; Pagano, R E RE; Snow, K K