Faculty Information - AKAGAWA Hiroyuki

（Last updated : 2025-04-23 17:34:21）

AKAGAWA Hiroyuki
Department Research Institutes and Facilities, Research Institutes and Facilities Institute for Comprehensive Medical Sciences

Position Associate Professor

■ Books

Chapter contribution　

RNF213 and Clinical Feature, Moyamoya disease: Current Knowledge and Future Perspectives 2021/02/27

■ Published papers

1.	Original article	The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease. 2024/02
2.	Original article	Factors associated with early-onset intracranial aneurysms in patients with autosomal dominant polycystic kidney disease 2024/02/05
3.	Original article	Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia. 2024/01
4.	Original article	Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. 2024/01
5.	Original article	Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease 2023/09/01
6.	Original article	A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2 2023/04/13
7.	Original article	Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia 2023/02
8.	Case report	A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation 2022/06/15
9.	Case report	A cardiac arrest case due to left coronary artery compression in congenital heart disease-associated pulmonary arterial hypertension 2022/05/06
10.	Original article	Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms 2022/03/17
11.	Other	RNF213 Gene Variants in Moyamoya Disease: Questions Remain Unanswered. 2022/03/15
12.	Case report	Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation. 2022/03/02
13.	Case report	Dystonic Tremor in Adult-onset DYT-KMT2B: A Case Report. 2022/01/13
14.	Original article	Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients. 2021/10/08
15.	Case report	Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease 2021/04/01
16.	Case report	Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases. 2020/10
17.	Other	Surgical Options and Genetic Screening of a Patient With Moyamoya Disease Harboring the RNF213 p.R4180 K Homozygous Variant. 2020/08
18.	Case report	Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis? 2020/02
19.	Case report	Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation 2019/11
20.	Case report	Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation. 2019/10
21.	Original article	Identification of shared genomic aberrations between angiomatous and microcystic meningiomas 2019/09/28
22.	Original article	Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism. 2019/03/25
23.	Original article	Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients. 2019/04
24.	Original article	Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease. 2019/04/04
25.	Case report	Novel SLC20A2 mutation in a Japanese pedigree with primary familial brain calcification 2019/04
26.	Case report	A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation 2019/03
27.	Original article	Cryobiopsy with endobronchial ultrasonography using a guide sheath for peripheral pulmonary lesions and DNA analysis by next generation sequencing and rapid on-site evaluation. 2019/03
28.	Original article	Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension. 2019/01
29.	Case report	Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease. 2018/08
30.	Case report	Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease. 2018/01
31.	Original article	Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma. 2017/12
32.	Case report	Thalamotomy for paroxysmal kinesigenic dyskinesias in a multiplex family. 2017/10
33.	Original article	Exome sequencing identified CCER2 as a novel candidate gene for Moyamoya disease. 2017/01
34.	Original article	Association of rare nonsynonymous variants in PKD1 and PKD2 with familial intracranial aneurysms in a Japanese population. 2016/12
35.	Original article	KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation. 2016/10/06
36.	Case report	Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1 2016/03
37.	Original article	Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease 2015/04
38.	Original article	Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease. 2015/03
39.	Case report	Spontaneous regression together with increased calcification of incidental meningioma 2014/05
40.	Original article	Analysis of TGFB1 in European and Japanese Moyamoya disease patients. 2012/05
41.	Original article	Association of the Jun Dimerization Protein 2 Gene with Intracranial Aneurysms in Japanese and Korean cohorts as compared to a Dutch cohort. 2010/08
42.	Original article	Gene expression in a canine basilar artery vasospasm model: a genome-wide network-based analysis. 2008/07
43.	Original article	Increased expression of ephrin A1 in brain arteriovenous malformation: DNA microarray analysis. 2007/10
44.	Original article	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. 2007/05
45.	Original article	The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. 2007/01
46.	Original article	Using endothelial nitric oxide synthase gene polymorphisms to identify intracranial aneurysms more prone to rupture in Japanese patients. 2006/11
47.	Original article	A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. 2006/05
48.	Original article	Is there any evidence for linkage on chromosome 17cen in affected Japanese sib-pairs with an intracranial aneurysm? 2006/05
49.	Other	COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese 2006/03
50.	Original article	COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. 2005/10
51.	Original article	Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. 2005/01
52.	Original article	Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage. 2004/12
53.	Original article	Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. 2004/02
54.	Original article	Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm. 2003/07
55.	Original article	Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young 2025/04
56.	Original article	Factors associated with early-onset intracranial aneurysms in patients with autosomal dominant polycystic kidney disease. 2024/05
57.	Original article	High prevalence of copy number variations in the Japanese participants with suspected MODY 2024/04/29
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■ Academic conference presentation

1.	Next Generation Sequencing in Japanese patients with Maturity-Onset Diabetes of the Young. （ポスター掲示，一般） 2023/10/12
2.	Genetic screening for monogenic diabetes using whole exome sequencing in a single hospital cohort in Japan （口頭，一般） 2022/09/22
3.	Whole exome sequencing for clinically suspected MODY in Japanese （口頭，一般） 2020/11/18
4.	Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation. （口頭，一般） 2019/10/24
5.	Stress response and role of autonomic nervous system in Takotsubo cardiomyopathy （ポスター掲示，一般） 2018/10/24
6.	Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing （ポスター掲示，一般） 2018/10/18
7.	Screening for mutations in 14 kinds of MODY genes in Patients with MODY in Japanese by Next generation sequencing （口頭，一般） 2018/10/13
8.	Exome sequencing identified CCER2 as a novel candidate gene for Moyamoya disease （口頭，シンポジウム・ワークショップパネル（指名）） 2018/07/13
9.	Genetics of Moyamoya disease （口頭，特別講演・招待講演など） 2017/09/22
10.	A novel mutation in the IPF-1/PDX-1 gene identified in a Japanese family with MODY. （ポスター掲示，一般） 2017/09/13
11.	Newly identified mutation in 5'UTR of HNF4A in a case of MODY3 （ポスター掲示，一般） 2017/05/20
12.	Confirmation of an Association of TNFRSF13B Sequence Variants with Intracranial Aneurysms in Japanese Patients. （ポスター掲示，一般） 2011/04/09
13.	Primary central nervous system posttransplant lymphoproliferative disorders （ポスター掲示，一般） 2010/06/21
14.	MRI findings of the post-transplant lymphoproliferative disorder (PTLD) of the central nervous system (CNS) （口頭，一般） 2010/05/10
15.	Tonotopia based on auditory auras associated with localized lesions in Heschl gyri. （口頭，一般） 2008/10
16.	Modified selective amygdalohippocampectomy via subtemporal approach based on StereoEEG examination （ポスター掲示，一般） 2007/09/14
17.	Identification of PTGIS variants in patients with Williams syndrome and severe peripheral pulmonary stenosis （口頭，一般） 2024/10/12
18.	Systematic Genetic Analysis achieved 57.1% of detection rate in Japanese MODY patient. （ポスター掲示，一般） 2024/04/17
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■ Academic society memberships

The Japan Society of Human Genetics

■ Education

1.	1993/04～1999/03	Faculty of Medicine, University of Yamanashi, Graduated,
2.	2009/03 Degree Acquisition	Tokyo Women's Medical University,

■ Rsearch funding number

60398807