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Medical Genetics

Staff List

Senior Assistant Professor WAKUI Keiko
Assistant Professor TAKANO Kyoko

Contact

E-mail :
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Summary of Activity

As medical genetic technology advances, the primary structure of the human genome has been clarified.
However, a number of disease mechanisms remain not wholly clear.
We investigate a human abnormal chromosome structure and genetic disorders with various molecular cytogenetic or molecular genetic approaches.

Also the division of clinical and molecular genetics at Shinshu University hospital is moving closer together, therefore we are putting effort into building clinical genetics systems in Japan and educating people on genetic.

This course is recruiting doctoral students.
Please contact us if interested.

Research Projects

Our research projects are as follows:

1.Discovery of novel genes of genetic diseases
2.Cytogenetic array analysis of chromosomal abnormality
3.3D-FISH analysis for gene-gene interaction
4.ELSI of genetics

Major Publications

1. Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y. (2013) Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan. J Hum Genet. in press

2. Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K. (2012) Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization. Chromosome Res. 20:659-672

3. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. (2012) Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 44:376-378.

4. Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y. (2012) Myelodysplastic syndrome in a child with 15q24 deletion. Am J Med Genet A. 158A:412-416.

5. Sakurai A, Murakami A, Sano K, Uchino S, Fukushima Y. (2009) Unusual clinical and pathological presentation of neuroendocrine tumor associated with multiple endocrine neoplasia type 1. Endocr J 56: 887-895

6. Wada T, Fukushima Y, Saitoh S. (2006) A new detection method for ATRX gene mutations using a mismatch-specific endonuclease. Am J Med Genet A. 140:1519-1523.

7. The International HapMap Consortium [Clayton EW. Et.al. (Fukushima Y:14/160)] (2004) Integrationg ethics and science in the International HapMap Project. Nature Reviews/Genetics 5:467-475

8. Fukushima Y, Sakurai A. (2004) Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan. Int J Clin Oncol. 9:304-307.

9. Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. (2002) The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res. 99:276-284.

10. Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y. (2002) Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression. J Hum Genet. 47:511-516.

GRADUATE
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  • Master's Curriculum Outline
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  • Doctoral Curriculum Outline
  • Join us in Shinshu Med. School, NAGANO
  • Short-term Elective Training for Foreign Medical Students
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  • List of Universities with Partnership Agreements