Genomic background of pseudohypoparathyroidism 1B
| Project/Area Number |
16K19630
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Chiba University |
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Principal Investigator |
takatani rieko 千葉大学, 医学部附属病院, 特任助教 (20772370)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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)
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| Keywords | 偽性副甲状腺機能低下症1B / インプリンティング異常症 / 偽性副甲状腺機能低下症 / 片親性ダイソミー / 偽性副甲状腺機能低下症１B |
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| Outline of Final Research Achievements |
1)I did genomic study of 27 pseudohypoparathyroidism 1B (PHP1B) patients with broad methylation changes at GNAS locus. 2) I found 2 patients had paternal uniparental disomy at long arm of 20 chromosome out of 27 sporadic PHP1B patients. 3) Regarding 23 patients, Idid whole genome sequence at STX-GNAS locus. I did not see new findings. 4) Regarding 1patient, Idid SNP-CGH array study. I did not see loss of heterozygosity.
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Report
(3 results)
Research Products
(2 results)
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[Journal Article] A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)2017
Author(s)
Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Makitie O, Juppner H
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Journal Title
J Bone Miner Res.
Volume: 印刷中
Issue: 4
Pages: 776-783
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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