Publications:

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: rs764789542

PubMed Link: 33139814

Variant Present in the following documents:

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

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: NPC1: 3020C>T; Pro1007Leu

PubMed Link: 33083013

Variant Present in the following documents:

• Main text
• 41525_2020_150_MOESM1_ESM.pdf
• 41525_2020_Article_150.pdf

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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: P1007L

PubMed Link: 28031458

Variant Present in the following documents:

• Main text

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Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Bmc Neurology

Imrie, Jackie J; Heptinstall, Lesley L; Knight, Stephen S; Strong, Kate K

Publication Date: 2015-12-15

Variant appearance in text: NPC1: 3020C>T; Pro1007Leu

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

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