Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 26961984)

Published in BMC Genet on March 09, 2016

Authors

Daichi Ishimaru1, Masanori Gotoh2, Shinichiro Takayama3, Rika Kosaki4, Yoshihiro Matsumoto5, Hisashi Narimatsu6, Takashi Sato7, Koji Kimata8, Haruhiko Akiyama9, Katsuji Shimizu10, Kazu Matsumoto11

Author Affiliations

1: Department of Orthopaedic Surgery, Gifu University, Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan. ishidaiishidai@kha.biglobe.ne.jp.
2: Research Center for Medical Glycoscience (RCMG), National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Japan. masa-gotoh@aist.go.jp.
3: Department of Orthopedic Surgery, National Research Institute for Child Health and Development, Tokyo, Japan. takayama-s@ncchd.go.jp.
4: Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan. kosaki-r@ncchd.go.jp.
5: Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. ymatsu@ortho.med.kyushu-u.ac.jp.
6: Research Center for Medical Glycoscience (RCMG), National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Japan. h.narimatsu@aist.go.jp.
7: Research Center for Medical Glycoscience (RCMG), National Institute of Advanced Industrial Science and Technology (AIST), Tsukuba, Japan. takashi-sato@aist.go.jp.
8: Advanced Medical Research Center, Aichi Medical University, Nagakute, Aichi, Japan. kimata@aichi-med-u.ac.jp.
9: Department of Orthopaedic Surgery, Gifu University, Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan. hakiyama@gifu-u.ac.jp.
10: Spine Center, Gifu Municipal Hospital, Gifu, Japan. katsuji.spine@gmail.com.
11: Department of Orthopaedic Surgery, Gifu University, Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan. mkazuu@gifu-u.ac.jp.

Articles cited by this

The natural history of hereditary multiple exostoses. J Bone Joint Surg Am (1994) 3.88

Multiple osteochondromas. Orphanet J Rare Dis (2008) 2.61

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet (1995) 2.29

Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg Am (2012) 1.96

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet (1996) 1.87

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 1.61

Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet (1997) 1.49

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat (2000) 1.36

Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res (1997) 1.31

Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. J Bone Joint Surg Am (2007) 1.27

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics (1998) 1.24

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci U S A (2010) 1.20

Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet (1998) 1.17

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am (2011) 1.17

Genomic organization and promoter structure of the human EXT1 gene. Genomics (1997) 1.15

The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res (1997) 1.03

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep (2013) 1.03

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer (2007) 1.01

Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet (1999) 1.00

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. J Mol Diagn (2007) 0.98

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet (2001) 0.87

What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration? Clin Orthop Relat Res (2015) 0.84

Scoliosis in patients with multiple hereditary exostoses. Eur Spine J (2015) 0.82

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (2014) 0.78