Publications:

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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: NPC1: S667L

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

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The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.

Frontiers In Genetics

Wang, Neng-Li NL; Chen, Lian L; Lu, Yi Y; Xie, Xin-Bao XB; Lin, Jing J; Abuduxikuer, Kuerbanjiang K; Wang, Jian-She JS

Publication Date: 2022

Variant appearance in text: NPC1: 2000C>T; S667L

PubMed Link: 35368683

Variant Present in the following documents:

• Main text
• fgene-13-867413.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: 2000C>T; S667L

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: 2000C>T; S667L

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Genes

Jeyaraj, Rebecca R; Bounford, Kirsten McKay KM; Ruth, Nicola N; Lloyd, Carla C; MacDonald, Fiona F; Hendriksz, Christian J CJ; Baumann, Ulrich U; Gissen, Paul P; Kelly, Deirdre D

Publication Date: 2021-11-21

Variant appearance in text: NPC1: 2000C>T; S667L

PubMed Link: 34828443

Variant Present in the following documents:

• Main text
• genes-12-01837.pdf

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A neuropathological cell model derived from Niemann-Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1-KEAP1-NRF2 Axis and impaired formation of neuronal networks.

Molecular Genetics And Metabolism Reports

Saito, Ryo R; Miyajima, Takashi T; Iwamoto, Takeo T; Wu, Chen C; Suzuki, Ken K; Hossain, Mohammad Arif MA; Munakata, Miyo M; Era, Takumi T; Eto, Yoshikatsu Y

Publication Date: 2021-09

Variant appearance in text: NPC1: S667L

PubMed Link: 34377675

Variant Present in the following documents:

• Main text
• main.pdf

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Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1.

International Journal Of Molecular Sciences

Völkner, Christin C; Liedtke, Maik M; Hermann, Andreas A; Frech, Moritz J MJ

Publication Date: 2021-01-12

Variant appearance in text: NPC1: S667L

PubMed Link: 33445799

Variant Present in the following documents:

• Main text
• ijms-22-00710.pdf

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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: 2000C>T; S667L

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.

Frontiers In Medicine

Corbett, James L JL; Duncan, Stephen A SA

Publication Date: 2019

Variant appearance in text: NPC1: S667L

PubMed Link: 31803747

Variant Present in the following documents:

• Main text
• fmed-06-00265.pdf

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Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Pediatric Neurology

Berry-Kravis, Elizabeth E; Chin, Jamie J; Hoffmann, Anne A; Winston, Amy A; Stoner, Robin R; LaGorio, Lisa L; Friedmann, Katherine K; Hernandez, Mariana M; Ory, Daniel S DS; Porter, Forbes D FD; O'Keefe, Joan A JA

Publication Date: 2018-03

Variant appearance in text: NPC1: 2000C>T; Ser667Leu

PubMed Link: 29429782

Variant Present in the following documents:

• Main text

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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: S667L

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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A 13-year old female with intractable seizures.

Brain Pathology (Zurich, Switzerland)

Can, Nhu Thuy NT; Nolan, Amber A; Waggoner, Darrel D; Silver, Kenneth K; Pytel, Peter P

Publication Date: 2015-03

Variant appearance in text: NPC1: S667L

PubMed Link: 25677067

Variant Present in the following documents:

• Main text

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