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: Tyr628Ser

PubMed Link: 37032731

Variant Present in the following documents:

• WJG-29-1765.pdf

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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: 1883A>C; Tyr628Ser

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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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: 1883A>C

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: 1883A>C; Tyr628Ser

PubMed Link: 35028265

Variant Present in the following documents:

• JMD2-63-3-s001.pdf

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: Tyr628Ser

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: Tyr628Ser

PubMed Link: 30925787

Variant Present in the following documents:

• Main text
• cells-08-00289.pdf

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: Y628S

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: rs28936673

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: CPT2: Y628S

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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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: CPT2: Y628S

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CPT2: Y628S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

View BVdb publication page

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