Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene-Reference-Cited by-同舟云学术

Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene

Published:2016-03-03 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Masuda Kenta,Kobayashi Yusuke,Kimura Tokuhiro,Umene Kiyoko,Misu Kumiko,Nomura Hiroyuki,Hirasawa Akira,Banno Kouji,Kosaki Kenjiro,Aoki Daisuke,Sugano Kokichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv20162.pdf

Reference13 articles.

1. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391: 184–187.

2. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998; 18: 38–43.

3. Yoo LI, Chung DC, Yuan J . LKB1--a master tumour suppressor of the small intestine and beyond. Nat Rev Cancer 2002; 2: 529–535.

4. Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513–519.

5. Hastings ML, Resta N, Traum D, Stella A, Guanti G, Krainer AR . An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. Nat Struct Mol Biol 2005; 12: 54–59.

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3. A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome;Molecular Genetics & Genomic Medicine;2021-06-03

4. Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome;World Journal of Gastroenterology;2020-04-28

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