Analysis of the mechanism of bone elongation using disease-specific iPS cells
Project/Area Number |
16K09985
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | The University of Tokyo |
Principal Investigator |
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Research Collaborator |
Saito Taku
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Project Period (FY) |
2016-04-01 – 2019-03-31
|
Project Status |
Completed (Fiscal Year 2018)
|
Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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Keywords | Kenny-Caffey症候群 / FAM111A / 低身長 / 副甲状腺機能低下症 / 疾患特異的iPS細胞 / 疾患特異的iPS 細胞 |
Outline of Final Research Achievements |
Kenny-Caffey syndrome type 2 (KCS2) is characterized by short stature, cortical thickening and medullary stenosis of tubular bones, and hypoparathyroidism. However, the function of the responsible gene FAM111A is largely unknown. In this study, we analyzed the mechanism of FAM111A mutation, using cultured chondrocyte, model animals, and disease-specific induced pluripotent stem cells. Induction of the mutant FAM111A into the chondrocytes disturbed chondrocyte proliferation and differentiation. Severel lines of disease-specific iPS cells were established. The mutant protein induced bone abnormality using model animals.
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Academic Significance and Societal Importance of the Research Achievements |
原因遺伝子として特定したにも関わらず、その機能や発症機序が不明であったFAM111Aが、軟骨分化増殖に影響することが初めて判明した。この研究をさらにすすめることにより、低身長の発症機序の解明が可能である。
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Report
(4 results)
Research Products
(33 results)
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[Journal Article] Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy2018
Author(s)
Akiyama T, Kubota T, Ozono K, Michigami T, Kobayashi D, Takeyari S, Sugiyama Y, Noda M, Harada D, Namba N, Suzuki A, Utoyama M, Kitanaka S, Uematsu M, Mitani Y, Matsunami K, Takishima S, Ogawa E, Kobayashi K
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Journal Title
Mol Genet Metab
Volume: 125
Issue: 1-2
Pages: 174-180
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome, showing 46,XY disorder of sex development.2017
Author(s)
45. Tamura M, Isojima T, Kasama T, Mafune R, Shimoda K, Yasudo H, Tanaka H, Takahashi C, Oka A, Kitanaka S
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Journal Title
Hum Genome Var
Volume: 4
Issue: 1
Pages: 17015-17015
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.2017
Author(s)
46. Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K
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Journal Title
BMC Nephrol
Volume: 18
Issue: 1
Pages: 100-100
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Partial monosomy of 10p and duplication of another chromosome in two patients.2017
Author(s)
Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, Seki M, Sato Y, Ogawa S, Takita J, Kitanaka S, Oka A.
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Journal Title
Pediatr Int.
Volume: 59
Issue: 1
Pages: 99-102
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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