Publications:

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Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Frontiers In Genetics

Chen, Fan F; Guo, Shan S; Li, Xuesong X; Liu, Shengxuan S; Wang, Li L; Zhang, Victor Wei VW; Xu, Hui H; Huang, Zhihua Z; Ying, Yanqin Y; Shu, Sainan S

Publication Date: 2022

Variant appearance in text: NPC1: Asp948Asn

PubMed Link: 35360843

Variant Present in the following documents:

• Main text
• fgene-13-845246.pdf

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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: D948N

PubMed Link: 34830064

Variant Present in the following documents:

• Main text
• ijms-22-12184.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: rs1261939149

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications

Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE

Publication Date: 2019-11-07

Variant appearance in text: NPC1: D948N

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf
• 41467_2019_Article_12969.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: NPC1: D948N

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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: D948N

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.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: D948N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: D948N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Orphanet Journal Of Rare Diseases

Abela, Lucia L; Plecko, Barbara B; Palla, Antonella A; Burda, Patricie P; Nuoffer, Jean-Marc JM; Ballhausen, Diana D; Rohrbach, Marianne M

Publication Date: 2014-11-26

Variant appearance in text: NPC1: Asp948Asn

PubMed Link: 25425405

Variant Present in the following documents:

• Main text
• 13023_2014_Article_176.pdf

View BVdb publication page

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Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Journal Of Inherited Metabolic Disease

Cologna, Stephanie M SM; Cluzeau, Celine V M CV; Yanjanin, Nicole M NM; Blank, Paul S PS; Dail, Michelle K MK; Siebel, Stephan S; Toth, Cynthia L CL; Wassif, Christopher A CA; Lieberman, Andrew P AP; Porter, Forbes D FD

Publication Date: 2014-01

Variant appearance in text: NPC1: 2842G>A

PubMed Link: 23653225

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: D948N

PubMed Link: 11349231

Variant Present in the following documents:

• Main text

View BVdb publication page

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