Fukami Maki

2020 - 2023 多因子疾患としての性分化疾患・生殖機能障害発症機序の解明

2019 - 2022 Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

2017 - 2022 性スペクトラム研究の運営

2017 - 2022 Molecular basis of human sex spectrum

2017 - 2020 Study for chromosomal instability leading to human disorders

2017 - 2020 Identification of the germline-derived GNAS gain-of-function mutations and clarification of the novel mechanism leading to GNAS loss-of-function

2017 - 2019 Genetic analysis for hereditary diseases of the optic nerve and retine

2016 - 2019 Elucidation of pathogenic mechanisms of disorders of sex development using systematic molecular analysis

2016 - 2019 Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

2016 - 2019 Development of diagnosis program and clinical application with congenital visual impairment patients for tailor-made medicine

2016 - 2019 Trial to identify the causative gene of periodic strabismus

2016 - 2019 Clarification of molecular basis of type 1 diabetes using novel technologies

2015 - 2018 Application of MSD-AFLP method to explore epigenetic imprints focusing on exposure levels of environmental chemicals

2015 - 2018 Epigenotype-phenotype analysis of Silver-Russell syndrome pathogenesis mechanism

2014 - 2017 Clarification of molecular basis of pubertal disorders and disorders of sex development

2014 - 2017 Relationship between chemical exposure biomarkers and DNA methylation levels in the malformations of external reproductive system of young males

2014 - 2017 Genetic mechanism of split-hand/foot malformation with or without long bone deficiency

2013 - 2016 Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia

2013 - 2016 Combined action of environmental and genetical factors on mail genital abnormalities

2013 - 2015 Genetic and environmental factors involved in human genomic instability

2010 - 2015 Clarification of underlying factors involved in the establishment of sex differences

2011 - 2014 Investigation for molecular basis of hypothalamo-pituitary-gonadal dysfunction

2010 - 2013 Extra-adrenal expression of Cyp21a1 for gene therapy of congenital adrenal hyperplasia

2008 - 2010 Molecular mechanism leading to impaired sexual differentiation and reproductive failure in patients with MAMLD mutations

2007 - 2009 Novel sex development gene CXorf6 : determination of clinical spectrum in mutation positive patients and clarification of underlying factors

2004 - 2008 Comprehensive mutation and susceptibility analyses and its clinical application in disorders of sex development and reproductive dysfunction

2006 - 2007 Clarification of molecular bases involved in 46, XX disorders development in patients with cytochrome P450 oxidoreductase deficiency

2005 - 2006 Clarification of the genetic mechanisms underlying the regulation for the expression of SHOX, a causative gene for short stature and sdyschomndrosteosis

2003 - 2004 Clarification of genetic mechanisms leading to the whole phenotype in Turner syndrome

1997 - 1998 Towards the cloning of the mental retardation gene (s) on the distal Xp

1995 - 1996 Molecular and clinical research of the growth genes on the sex chromosomes