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Literature DB >> 12357475

Some chondrodysplasias with short limbs: molecular perspectives.

Abstract

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN. Copyright 2002 Wiley-Liss, Inc.

Entities: Disease Gene

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Year: 2002 PMID： 12357475 DOI： 10.1002/ajmg.10780

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

12 in total

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Review 3. Synthesis and biological applications of collagen-model triple-helical peptides.

Authors: Gregg B Fields
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4. Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

Authors: Nuala Del Piccolo; Jesse Placone; Kalina Hristova
Journal: Biophys J Date: 2015-01-20 Impact factor: 4.033

Review 5. The transition model of RTK activation: A quantitative framework for understanding RTK signaling and RTK modulator activity.

Authors: Michael D Paul; Kalina Hristova
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6. Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.

Authors: Sarvenaz Sarabipour; Kalina Hristova
Journal: Biochim Biophys Acta Date: 2016-03-31

Some chondrodysplasias with short limbs: molecular perspectives.

1. Quantifying the Interaction between EGFR Dimers and Grb2 in Live Cells.

2. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Review 3. Synthesis and biological applications of collagen-model triple-helical peptides.

4. Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

Review 5. The transition model of RTK activation: A quantitative framework for understanding RTK signaling and RTK modulator activity.

6. Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.

7. Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

8. Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

9. Mechanism of FGF receptor dimerization and activation.

10. Achondroplasia with oligodontia: Report of a rare case.