Analysis of pathophysiology of skewed X-chromosome inactivation in female patients with X-linked recessive hereditary disease using iPS cells
Project/Area Number |
15K09655
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Kyushu University |
Principal Investigator |
|
Co-Investigator(Kenkyū-buntansha) |
石村 匡崇 九州大学, 医学研究院, 助教 (10448417)
田中 珠美 九州大学, 医学研究院, 学術研究員 (60423547)
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
Keywords | X染色体不活化 / X連鎖劣性遺伝性疾患 / X連鎖無ガンマグロブリン血症 / Wiskott-Aldrich症候群 / iPS細胞 |
Outline of Final Research Achievements |
This study was to identify the mechanism of skewed X chromosome inactivation (XCI) which was observed in female XLA and WAS, and to search the drug to treat abnormal XIC. We established a gene transduction method to induce 2 genes which emit 2 different types of fluorescence into iPS cells. By using this system, we could identify the type of XCI by flowcytometer and we found that this system was useful in drug screening. We established the HD.AdAAV gene editing system in which we could induce fatal gene mutation at specific sites, which we found useful in drug-screening. To analyze the mechanism of XCI skewing, we performed whole exon sequencing and genetic analysis of XCI region. We are now working on whole-genome sequencing.
|
Report
(4 results)
Research Products
(51 results)
-
-
[Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases2018
Author(s)
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.
-
Journal Title
Allergology International
Volume: 67
Issue: 1
Pages: 43-54
DOI
NAID
ISSN
1323-8930, 1440-1592
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Clarithromycin Plus Intravenous Immunoglobulin Therapy Can Reduce the Relapse Rate of Kawasaki Disease: A Phase 2, Open-Label, Randomized Control Study.2017
Author(s)
Nanishi E, Nishio H, Takada H, Yamamura K, Fukazawa M, Furuno K, Mizuno Y, Saigo K, Kadoya R, Ohbuchi N, Onoe Y, Yamashita H, Nakayama H, Hara T, Ohno T, Takahashi Y, Hatae K, Harada T, Shimose T, Kishimoto J, Ohga S, Hara T.
-
Journal Title
J Am Heart Assoc
Volume: 6
Issue: 7
DOI
Related Report
Peer Reviewed
-
-
-
[Journal Article] A CD57+ CTL degranulation assay effectively identifies familial hemophagocytic lymphohistiocytosis type 3 patients2017
Author(s)
Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, and Toshio Heike
-
Journal Title
Journal of Clinical Immunology
Volume: 37
Issue: 1
Pages: 92-99
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
-
[Journal Article] A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.2017
Author(s)
Ueki M, Yamada M, Ito K, Tozawa Y, Morino S, Horikoshi Y, Takada H, Abdrabou SS, Takezaki S, Kobayashi I, Ariga T.
-
Journal Title
Clin Immunol.
Volume: 174
Pages: 24-31
DOI
Related Report
Peer Reviewed
-
[Journal Article] Activated phosphoinositide 3-kinase δ syndrome presenting with gut-associated T-cell lymphoproliferative disease2017
Author(s)
Teranishi H, Ishimura M, Koga Y, Eguchi K, Sonoda M, Kobayashi T, Shiraishi S, Nakashima K, Ikegami K, Aman M, Yamamoto H, Takada H, Ohga S.
-
Journal Title
Rinsho Ketsueki
Volume: 58
Issue: 1
Pages: 20-25
DOI
NAID
ISSN
0485-1439, 1882-0824
Related Report
Peer Reviewed
-
[Journal Article] Evaluation of Teicoplanin Trough Values After the Recommended Loading Dose in Children With Associated Safety Analysis.2017
Author(s)
Yamada T, Kubota T, Yonezawa M, Nishio H, Kanno S, Yano T, Kobayashi D, Egashira N, Takada H, Hara T, Masuda S.
-
Journal Title
Pediatr Infect Dis J.
Volume: 36
Issue: 4
Pages: 398-400
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
-
-
-
-
[Journal Article] Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.2017
Author(s)
Ichimiya Y, Kaku N, Sakai Y, Yamashita F, Matsuoka W, Muraoka M, Akamine S, Mizuguchi S, Torio M, Motomura Y, Hirata Y, Ishizaki Y, Sanefuji M, Torisu H, Takada H, Maehara Y, Ohga S.
-
Journal Title
Brain Dev.
Volume: -
Issue: 7
Pages: 621-624
DOI
Related Report
Peer Reviewed
-
-
-
[Journal Article] An Elevation of Serum Ferritin Level Might Increase Clinical Risk for the Persistence of Patent Ductus Arteriosus, Sepsis and Bronchopulmonary Dysplasia in Erythropoietin-Treated Very-Low-Birth-Weight Infants.2017
Author(s)
Ochiai M, Kurata H, Inoue H, Tanaka K, Matsushita Y, Fujiyoshi J, Wakata Y, Kato K, Taguchi T, Takada H.
-
Journal Title
Related Report
Peer Reviewed
-
[Journal Article] Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants2016
Author(s)
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S,Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M,Baghdadi JE, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J,Perez L, Danielian S, Ailal F, Takada H, Hara T, Anne Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Masao Kobayashi M.
-
Journal Title
J Allergy Clin Immunol.
Volume: -
Issue: 1
Pages: 232-241
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
[Journal Article] A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases.2016
Author(s)
12.Nanishi E, Hoshina T, Takada H, Ishimura M, Nishio H, Uehara T, Mizuno Y, Hasegawa S, Ohga S, Nagao M, Igarashi M, Yajima S, Kusumoto Y, Onishi N, Sasahara Y, Yasumi T, Heike T, Hara T, Kumaki S, et al.;
-
Journal Title
J Infect.
Volume: 73
Issue: 4
Pages: 358-368
DOI
Related Report
Peer Reviewed
-
-
-
-
-
[Journal Article] Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.2016
Author(s)
Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T.
-
Journal Title
Sci Rep
Volume: 未
Issue: 1
Pages: 22991-22991
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Analysis of Death Due to Infectious Diseases in Patients Hospitalized in the Pediatric Ward of a Single Japanese Tertiary Medical Facility.2016
Author(s)
Toda N, Hoshina T, Koga Y, Ochiai M, Kaku N, Yamamura K, Torisu H, Ihara K, Takada H, Maehara Y, Hara T.
-
Journal Title
Jpn J Infect Dis.
Volume: 69
Pages: 464-470
NAID
Related Report
Peer Reviewed
-
-
[Journal Article] Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.2016
Author(s)
Takada H, Ishimura M, Takimoto T, Kohagura T, Yoshikawa H, Imaizumi M, Shichijyou K, Shimabukuro Y, Kise T, Hyakuna N, Ohara O, Nonoyama S, Hara T.
-
Journal Title
Medicine (Baltimore)
Volume: 95(4)
Issue: 4
Pages: e2437-e2437
DOI
NAID
Related Report
Peer Reviewed / Acknowledgement Compliant
-
[Journal Article] Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.2016
Author(s)
T. Yanagi, T. Mizuochi, Y. Takaki, K. Eda, K. Mitsuyama, M. Ishimura, H. Takada, D. S. Shouval, A. E. Griffith, S. B. Snapper, Y. Yamashita, and K. Yamamoto
-
Journal Title
BMC Gastroenterology
Volume: 16
Issue: 1
Pages: 10-10
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
[Journal Article] Analysis of the death due to infectious diseases in the patients hospitalized in the pediatric ward of a single Japanese tertiary medical facility.2016
Author(s)
Toda N, Hoshina T, Koga Y, Ochiai M, Kaku N, Yamamura K, Torisu H, Ihara K, Takada H, Maehara Y, Hara T.
-
Journal Title
Jpn J Infect Dis
Volume: 未
NAID
Related Report
Peer Reviewed / Open Access
-
-
[Journal Article] Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan.2016
Author(s)
Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S.
-
Journal Title
Clin Exp Nephrol
Volume: 20
Issue: 2
Pages: 265-72
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
[Journal Article] Mutations in Bruton's tyrosine kinase impair IgA responses.2015
Author(s)
Mitsuiki N, Yang X, S, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T.
-
Journal Title
Int J Hematol.
Volume: 101(3)
Issue: 3
Pages: 305-13
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-