Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes-Reference-Cited by-同舟云学术

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes

Published:2022 Issue:1 Volume:256 Page:37-41
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Kondoh Tomomi¹,Nakajima Yoko¹,Yokoi Katsuyuki¹,Matsumoto Yuji¹,Inagaki Hidehito²,Kato Takema²,Nakajima Yoichi¹,Ito Tetsuya¹,Yoshikawa Tetsushi¹,Kurahashi Hiroki²

Affiliation:

1. Department of Pediatrics, Fujita Health University School of Medicine

2. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University School of Medicine

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/tjem/256/1/256_37/_pdf

Reference14 articles.

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2. Johansen, C.T., Dube, J.B., Loyzer, M.N., MacDonald, A., Carter, D.E., McIntyre, A.D., Cao, H., Wang, J., Robinson, J.F. & Hegele, R.A.(2014) LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias. J. Lipid Res., 55, 765-772.

3. Johansson, B.B., Fjeld, K., El Jellas, K., Gravdal, A., Dalva, M., Tjora, E., Raeder, H., Kulkarni, R.N., Johansson, S., Njolstad, P.R. & Molven, A.(2018) The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. Pancreatology, 18, 12-19.

4. Johansson, B.B., Torsvik, J., Bjorkhaug, L., Vesterhus, M., Ragvin, A., Tjora, E., Fjeld, K., Hoem, D., Johansson, S., Raeder, H., Lindquist, S., Hernell, O., Cnop, M., Saraste, J., Flatmark, T., et al.(2011) Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease. J. Biol. Chem., 286, 34593-34605.

5. Lee, T., Misaki, M., Shimomura, H., Tanaka, Y., Yoshida, S., Murayama, K., Nakamura, K., Fujiki, R., Ohara, O., Sasai, H., Fukao, T. & Takeshima, Y.(2018) Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation. Hum. Genome. Var., 5, 22.

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