A Treatment for Patients with Jansens Metaphyseal Chondrodysplasia (JMC) — Elizabeth Ottinger (NATIONAL CENTER FOR ADVANCING TRANS
JMC is caused by heterozygous, autosomal-dominant activating mutations in the G protein-coupled PTH receptor type 1 (PTHR1), which is highly expressed in kidney and bone, including the metaphyseal gro
| Project title | A Treatment for Patients with Jansens Metaphyseal Chondrodysplasia (JMC) |
|---|---|
| Project number | 1ZIATR000425-02 |
| PI name | Elizabeth Ottinger |
| Institution | NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES |
| Funding mechanism | ZIA |
| Agency | NCATS |
| Award amount | $3.16M |
| Fiscal year | 2021 |
| Abstract | JMC is caused by heterozygous, autosomal-dominant activating mutations in the G protein-coupled PTH receptor type 1 (PTHR1), which is highly expressed in kidney and bone, including the metaphyseal gro |
| Key terms | <Agonist><Anatomic Abnormality><Anatomical Abnormality><Biological><Blindness><Blood><Blood Reticulo |
$799/mo
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