التفاصيل البيبلوغرافية
| العنوان: |
Mice Expressing MutantTrpv4Recapitulate the HumanTRPV4Disorders |
| المؤلفون: |
Yuqing Chen, Daniel H. Cohn, Michael M. Weinstein, Stuart W. Tompson, Brendan Lee |
| المصدر: |
Journal of Bone and Mineral Research. 29:1815-1822 |
| بيانات النشر: |
Wiley, 2014. |
| سنة النشر: |
2014 |
| مصطلحات موضوعية: |
Genetically modified mouse, TRPV4, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Transgene, Mutant, Autosomal dominant brachyolmia, Biology, medicine.disease, Phenotype, Downregulation and upregulation, Dysplasia, medicine, Cancer research, Orthopedics and Sports Medicine |
| الوصف: |
Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expressing either wild-type or mutant TRPV4. Mice transgenic for wild-type Trpv4 showed no morphological changes at embryonic day 16.5 but did have a delay in bone mineralization. Overexpression of a mutant TRPV4 caused a lethal skeletal dysplasia that phenocopied many abnormalities associated with metatropic dysplasia in humans, including dumbbell-shaped long bones, a small ribcage, abnormalities in the autopod, and abnormal ossification in the vertebrae. The difference in phenotype between embryos transgenic for wild-type or mutant Trpv4 demonstrates that an increased amount of wild-type protein can be tolerated and that an activating mutation of this protein is required to produce a skeletal dysplasia phenotype. © 2014 American Society for Bone and Mineral Research |
| تدمد: |
0884-0431 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_________::682cca994d0af510b1db5f8a77c6274cTest
https://doi.org/10.1002/jbmr.2220Test |
| حقوق: |
OPEN |
| رقم الانضمام: |
edsair.doi...........682cca994d0af510b1db5f8a77c6274c |
| قاعدة البيانات: |
OpenAIRE |
