Publications:

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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

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Journal Of Personalized Medicine

Michelini, Sandro S; Herbst, Karen L KL; Precone, Vincenza V; Manara, Elena E; Marceddu, Giuseppe G; Dautaj, Astrit A; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Ceccarini, Maria Rachele MR; Beccari, Tommaso T; Sorrentino, Elisa E; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Miggiano, Giacinto Abele Donato GAD; Bertelli, Matteo M

Publication Date: 2022-02-11

Variant appearance in text: NPC1: 3011C>T; Ser1004Leu; rs150334966

PubMed Link: 35207755

Variant Present in the following documents:

• jpm-12-00268.pdf

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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

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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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

Publication Date: 2021-11-10

Variant appearance in text: NPC1: S1004L

PubMed Link: 34830064

Variant Present in the following documents:

• Main text
• ijms-22-12184.pdf

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Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.

Scientific Reports

Touma, Lahoud L; Labrecque, Marjorie M; Tetreault, Martine M; Duquette, Antoine A

Publication Date: 2021-05-14

Variant appearance in text: NPC1: S1004L

PubMed Link: 33990640

Variant Present in the following documents:

• Main text
• 41598_2021_Article_89630.pdf

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs150334966

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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

PubMed Link: 32371106

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2019-03

Variant appearance in text: rs150334966

PubMed Link: 30503768

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Bmc Neurology

Kawazoe, Tomoya T; Yamamoto, Toshiyuki T; Narita, Aya A; Ohno, Kousaku K; Adachi, Kaori K; Nanba, Eiji E; Noguchi, Atsuko A; Takahashi, Tsutomu T; Maekawa, Masamitsu M; Eto, Yoshikatsu Y; Ogawa, Masafumi M; Murata, Miho M; Takahashi, Yuji Y

Publication Date: 2018-08-17

Variant appearance in text: NPC1: 3011C>T

PubMed Link: 30119649

Variant Present in the following documents:

• Main text
• 12883_2018_Article_1124.pdf

View BVdb publication page

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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

Publication Date: 2017-03-17

Variant appearance in text: NPC1: S1004L

PubMed Link: 28031458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell

Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N

Publication Date: 2016-06-02

Variant appearance in text: NPC1: S1004L

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: S1004L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: S1004L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page

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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

PubMed Link: 24386122

Variant Present in the following documents:

• Main text
• pone.0082879.pdf

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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

Publication Date: 2001-06

Variant appearance in text: NPC1: S1004L

PubMed Link: 11349231

Variant Present in the following documents:

• Main text

View BVdb publication page

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