Kure Shigeo

2012 - 2016 Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

2013 - 2015 Genetic testing for risk evaluation of Moyamoya disease

2012 - 2014 Conprehensive analysis of SCN1A noncoding region for epileptic disorders

2011 - 2014 Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defects

2011 - 2014 Functional analysis of RNF213 gene identified by genome-wide association study

2012 - 2013 Cerebral vascular abnormality in carriers of the RNF213 risk variant detected by a new genetic test

2011 - 2012 Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray

2011 - 2012 Development of a genetic test to evaluate the risk for Moyamoya disease

2009 - 2011 The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

2008 - 2010 Evaluation system of residual enzymatic activity by 13C-breath test, which improves treatment of patients with inborn error of metabolism

2008 - 2010 Molecular analysis of congenital anomaly syndromes caused by impaired intracellular signaling pathways

2007 - 2009 Effects of vitamin B6 on children with autism : a randomized controlled trial

2006 - 2007 Strategy for prevention of development of CTLN2 in patients with citrin deficiency

2006 - 2007 Screening of gene mutations for methylmalonic acidemia and serch for responsible gene of benign-type methylmalonic acidemia

2006 - 2007 Molecular analysis of congenital anomaly syndromes due to mutations in signal transduction pathways

2005 - 2006 小児科領域における遺伝子多型に基づいたオーダーメイド医療の構築

2005 - 2006 Comprehensive mutational screening of genes maintaining the glycine concentrations in the central nervous system

2004 - 2005 Clinical manifestations of infants with neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD)

2004 - 2005 Multivariate analysis of asthma susceptibility genes

2004 - 2004 難聴遺伝子領域DFNA2に存在する新規病因遺伝子の同定の機能解析

2003 - 2004 単一遺伝子病に対する新しい遺伝子診断法の開発と応用

2003 - 2004 COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGLE GENE DISORDERS

2003 - 2004 DEVELOPMENT OF A NOVEL POINT-OF-CARE GENETIC TESTING METHOD

2002 - 2004 Neurophysiological and molecular approach for evaluating mechanism of pathogenesis of febrile seizure

2003 - 2003 染色体1q34領域にマップされた新規難聴責任遺伝子の同定と機能解析

2002 - 2003 Functional knockout of the glucose transporter 2 in mice overexpressing a dominant negative mutation

2001 - 2002 Identification of a novel gene responsible for hyperglycinemia

2001 - 2002 COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGILE GENE DISORDERS

2000 - 2001 Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome

2000 - 2001 DNA DIAGNOSIS OF RARE GENETIC DISEASES USING JAPANESE MICROARRAY

1999 - 2000 GENE THERAPY IN PHENYLKETONURIA

1998 - 1999 Recurrent deletion in glycine decarboxylase gene and nonketotic hyperglycinemia Medical genetics, Research

1998 - 1999 AUTOMATIC DETECTION SYSTEM OF GENETIC POLYMORPHISMS

1998 - 1999 KINETIC PROPERTIES OF MUTANT HOLOCARBOXYLASE SYNTHETASES

1997 - 1998 Propionic Acidemia : Mutation Analysis of the alpha-subunit of Propionyl-CoA Carboxylase.

1997 - 1998 Adenovirus-mediated gene transfer in phenylketonuria model mice

1996 - 1997 DEVELOPMENT AND ANALYSIS OF A MODEL MOUSE FOR NONKETOTIC HYPERGLYCINEMIA

1996 - 1997 GENE THERAPY ON HEPATIC ENZYME DEFICIENCY.

1996 - 1996 フェニルケトン尿症に対する遺伝子治療の基礎的研究

1995 - 1996 Development of gene diagnosis system for screening of inherited metabolic disorders

1994 - 1996 Rapid Detection of Known Mutations and Its Application to Carrie Testing

1994 - 1995 Propionic acidemia : bacterial expression system for propionyl CoA carboxylase.

1993 - 1995 Molecular basis of neonatal-onset multiple carboxylase deficiency

1993 - 1993 新生児一過性高グリシン血症の発症機構の解析

1992 - 1993 Propionic acidemia : Molecular analysis of beta subnit deficient Japanese petients

1991 - 1993 DNA Diagnosis of Non-ketotic Hyperglycinemia

1990 - 1992 DIAGNOSTIC METHODS BY DNA ANALYSIS OF DRIED BLOOD SPOTS AND CLASSIFICATION OF INHERITED DISEASE BY MUTANT GENOTYPES.