Publications:

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 665A>G; N222S

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 665A>G; N222S

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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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: N222S

PubMed Link: 33990640

Variant Present in the following documents:

• Main text
• 41598_2021_Article_89630.pdf

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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: rs55680026

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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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: Asn222Ser; rs55680026

PubMed Link: 32371106

Variant Present in the following documents:

• Main text

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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Journal Of Clinical Medicine

Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B

Publication Date: 2020-03-03

Variant appearance in text: NPC1: N222S

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: NPC1: 665A>G; Asn222Ser

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 22

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Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Human Mutation

Wang, Nan N; Zhang, Yeting Y; Gedvilaite, Erika E; Loh, Jui Wan JW; Lin, Timothy T; Liu, Xiuping X; Liu, Chang-Gong CG; Kumar, Dibyendu D; Donnelly, Robert R; Raymond, Kimiyo K; Schuchman, Edward H EH; Sleat, David E DE; Lobel, Peter P; Xing, Jinchuan J

Publication Date: 2017-11

Variant appearance in text: NPC1: Asn222Ser; rs55680026

PubMed Link: 28703315

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NPC1: 665A>G; Asn222Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

Journal Of Translational Medicine

De Castro-Orós, Isabel I; Irún, Pilar P; Cebolla, Jorge Javier JJ; Rodriguez-Sureda, Victor V; Mallén, Miguel M; Pueyo, María Jesús MJ; Mozas, Pilar P; Dominguez, Carmen C; Pocoví, Miguel M; ,

Publication Date: 2017-02-21

Variant appearance in text: NPC1: Asn222Ser

PubMed Link: 28222799

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1146.pdf

View BVdb publication page

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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.

Science Translational Medicine

Jiang, Xuntian X; Sidhu, Rohini R; Mydock-McGrane, Laurel L; Hsu, Fong-Fu FF; Covey, Douglas F DF; Scherrer, David E DE; Earley, Brian B; Gale, Sarah E SE; Farhat, Nicole Y NY; Porter, Forbes D FD; Dietzen, Dennis J DJ; Orsini, Joseph J JJ; Berry-Kravis, Elizabeth E; Zhang, Xiaokui X; Reunert, Janice J; Marquardt, Thorsten T; Runz, Heiko H; Giugliani, Roberto R; Schaffer, Jean E JE; Ory, Daniel S DS

Publication Date: 2016-05-04

Variant appearance in text: NPC1: N222S

PubMed Link: 27147587

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: N222S

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: NPC1: N222S; rs55680026

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8
• NIHMS753666-supplement-2.xlsx, sheet 7

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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Adebali, Ogun O; Reznik, Alexander O AO; Ory, Daniel S DS; Zhulin, Igor B IB

Publication Date: 2016-10

Variant appearance in text: NPC1: N222S

PubMed Link: 26890452

Variant Present in the following documents:

• Main text
• gim2015208a.pdf

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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.

Plos One

Marques, André R A AR; Gabriel, Tanit L TL; Aten, Jan J; van Roomen, Cindy P A A CP; Ottenhoff, Roelof R; Claessen, Nike N; Alfonso, Pilar P; Irún, Pilar P; Giraldo, Pilar P; Aerts, Johannes M F G JM; van Eijk, Marco M

Publication Date: 2016

Variant appearance in text: NPC1: Asn222Ser; rs55680026

PubMed Link: 26771826

Variant Present in the following documents:

• pone.0147208.s002.xls, sheet 1

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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: N222S; rs55680026

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research

Sadananda, Singh N SN; Foo, Jia Nee JN; Toh, Meng Tiak MT; Cermakova, Lubomira L; Trigueros-Motos, Laia L; Chan, Teddy T; Liany, Herty H; Collins, Jennifer A JA; Gerami, Sima S; Singaraja, Roshni R RR; Hayden, Michael R MR; Francis, Gordon A GA; Frohlich, Jiri J; Khor, Chiea Chuen CC; Brunham, Liam R LR

Publication Date: 2015-10

Variant appearance in text: NPC1: 665A>G; Asn222Ser; rs55680026

PubMed Link: 26255038

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: N222S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs55680026

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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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: 665A>G; N222S

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: NPC1: N222S; rs55680026

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 36

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: NPC1: N222S; rs55680026

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet Journal Of Rare Diseases

Fernández-Marmiesse, Ana A; Morey, Marcos M; Pineda, Merce M; Eiris, Jesús J; Couce, Maria Luz ML; Castro-Gago, Manuel M; Fraga, Jose Maria JM; Lacerda, Lucia L; Gouveia, Sofia S; Pérez-Poyato, Maria Socorro MS; Armstrong, Judith J; Castiñeiras, Daisy D; Cocho, Jose A JA

Publication Date: 2014-04-25

Variant appearance in text: NPC1: 665A>G; N222S

PubMed Link: 24767253

Variant Present in the following documents:

• Main text
• 1750-1172-9-59.pdf

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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: 665A>G; Asn222Ser; rs55680026

PubMed Link: 24386122

Variant Present in the following documents:

• Main text
• pone.0082879.pdf

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Orphanet Journal Of Rare Diseases

Stampfer, Miriam M; Theiss, Susanne S; Amraoui, Yasmina Y; Jiang, Xuntian X; Keller, Sigrid S; Ory, Daniel S DS; Mengel, Eugen E; Fischer, Christine C; Runz, Heiko H

Publication Date: 2013-02-22

Variant appearance in text: NPC1: N222S

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

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Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

Journal Of Lipid Research

Tängemo, Carolina C; Weber, Dominik D; Theiss, Susanne S; Mengel, Eugen E; Runz, Heiko H

Publication Date: 2011-04

Variant appearance in text: NPC1: 665A>G; N222S

PubMed Link: 21245028

Variant Present in the following documents:

• Main text

View BVdb publication page

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