Publications:

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Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.

World Journal Of Gastroenterology

Yao, Min M; Zhou, Ping P; Qin, Yan-Yan YY; Wang, Li L; Yao, Deng-Fu DF

Publication Date: 2023-03-28

Variant appearance in text: CPT2: Glu174Lys

PubMed Link: 37032731

Variant Present in the following documents:

• WJG-29-1765.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CPT2: 520G>A; Glu174Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.

Frontiers In Genetics

Zhou, Duo D; Cheng, Yi Y; Yin, Xiaoshan X; Miao, Haixia H; Hu, Zhenzhen Z; Yang, Jianbin J; Zhang, Yu Y; Wu, Benqing B; Huang, Xinwen X

Publication Date: 2022

Variant appearance in text: CPT2: 520G>A

PubMed Link: 35360862

Variant Present in the following documents:

• Main text
• fgene-13-823687.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: CPT2: 520G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Jimd Reports

Shelihan, Ivan I; Rossignol, Elsa E; Décarie, Jean-Claude JC; Bonnefont, Jean-Paul JP; Brivet, Michèle M; Brunel-Guitton, Catherine C; Mitchell, Grant A GA

Publication Date: 2022-01

Variant appearance in text: CPT2: 520G>A; Glu174Lys

PubMed Link: 35028265

Variant Present in the following documents:

• JMD2-63-3-s001.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CPT2: 520G>A; Glu174Lys; rs28936674

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Screening Pathways through China, the Asia Pacific Region, the World.

International Journal Of Neonatal Screening

Wiley, Veronica V; Webster, Dianne D; Loeber, Gerard G

Publication Date: 2019-09

Variant appearance in text: CPT2: E174K

PubMed Link: 33072985

Variant Present in the following documents:

• IJNS-05-00026.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CPT2: E174K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.

Molecules (Basel, Switzerland)

Joshi, Pushpa Raj PR; Zierz, Stephan S

Publication Date: 2020-04-13

Variant appearance in text: CPT2: Glu174Lys

PubMed Link: 32295037

Variant Present in the following documents:

• Main text
• molecules-25-01784.pdf

View BVdb publication page

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Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Cells

Djouadi, Fatima F; Bastin, Jean J

Publication Date: 2019-03-28

Variant appearance in text: CPT2: Glu174Lys

PubMed Link: 30925787

Variant Present in the following documents:

• Main text

View BVdb publication page

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Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.

Molecular Genetics And Metabolism Reports

Yamada, Kenji K; Shiraishi, Hideaki H; Oki, Eishin E; Ishige, Mika M; Fukao, Toshiyuki T; Hamada, Yusuke Y; Sakai, Norio N; Ochi, Fumihiro F; Watanabe, Asami A; Kawakami, Sanae S; Kuzume, Kazuyo K; Watanabe, Kenji K; Sameshima, Koji K; Nakamagoe, Kiyotaka K; Tamaoka, Akira A; Asahina, Naoko N; Yokoshiki, Saki S; Miyakoshi, Takashi T; Ono, Kota K; Oba, Koji K; Isoe, Toshiyuki T; Hayashi, Hiroshi H; Yamaguchi, Seiji S; Sato, Norihiro N

Publication Date: 2018-06

Variant appearance in text: CPT2: E174K

PubMed Link: 29552494

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs28936674

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: CPT2: 520G>A; Glu174Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Tan, Jian-Qiang JQ; Chen, Da-Yu DY; Li, Wu-Gao WG; Li, Zhe-Tao ZT; Huang, Ji-Wei JW; Yan, Ti-Zhen TZ; Cai, Ren R

Publication Date: 2016-12

Variant appearance in text: CPT2: E174K

PubMed Link: 27974123

Variant Present in the following documents:

• Main text

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: rs28936674

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CPT2: E174K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: CPT2: E174K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CPT2: E174K

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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