Publications:

---

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.

Children (Basel, Switzerland)

Kraus, Dror D; Abdelrahim, Huda H; Waisbourd-Zinman, Orith O; Domin, Elena E; Zeharia, Avraham A; Staretz-Chacham, Orna O

Publication Date: 2022-04-12

Variant appearance in text: NPC1: A1054T

PubMed Link: 35455589

Variant Present in the following documents:

• children-09-00545.pdf

View BVdb publication page

---

Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

Plos One

Hopf, Susanne S; Hennermann, Julia B JB; Schuster, Alexander K AK; Pfeiffer, Norbert N; Pitz, Susanne S

Publication Date: 2021

Variant appearance in text: NPC1: A1054T

PubMed Link: 34086834

Variant Present in the following documents:

• pone.0252825.s001.pdf

View BVdb publication page

---

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: rs80358258

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

View BVdb publication page

---

Retinal axonal degeneration in Niemann-Pick type C disease.

Journal Of Neurology

Havla, Joachim J; Moser, Marlene M; Sztatecsny, Clara C; Lotz-Havla, Amelie S AS; Maier, Esther M EM; Hizli, Baccara B; Schinner, Regina R; Kümpfel, Tania T; Strupp, Michael M; Bremova-Ertl, Tatiana T; Schneider, Susanne A SA

Publication Date: 2020-07

Variant appearance in text: NPC1: 3160G>A; A1054T

PubMed Link: 32222928

Variant Present in the following documents:

• Main text
• 415_2020_Article_9796.pdf

View BVdb publication page

---

Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: A1054T

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: NPC1: 3160G>A; Ala1054Thr; rs80358258

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

---

Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: NPC1: A1054T

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

---

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Bmc Medical Genetics

Bountouvi, Evangelia E; Papadopoulou, Anna A; Vanier, Marie T MT; Nyktari, Georgia G; Kanellakis, Spyridon S; Michelakakis, Helen H; Dinopoulos, Argyrios A

Publication Date: 2017-05-04

Variant appearance in text: NPC1: A1054T

PubMed Link: 28472934

Variant Present in the following documents:

• Main text
• 12881_2017_Article_409.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NPC1: 3160G>A; A1054T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

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: A1054T

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

---

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: A1054T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: A1054T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

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: A1054T

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

View BVdb publication page

---

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics

Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT

Publication Date: 2001-06

Variant appearance in text: NPC1: A1054T

PubMed Link: 11333381

Variant Present in the following documents:

• Main text

View BVdb publication page

---