期刊
JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B
卷 21, 期 1, 页码 7-9出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/BPB.0b013e328349927c
关键词
clubfoot; etiology; genes; PITX1; TBX4
资金
- National Institutes of Health
- Children's Discovery Institute
- March of Dimes
- St. Louis Children's Hospital Foundation
- Shriners Hospital for Children
- Orthopaedic Research and Education Foundation
- Pediatric Orthopaedic Society of North America
- Mallinckrodt Institute of Radiology
Modern advances in genetics have allowed investigators to identify the complex etiology of clubfoot. It has become increasingly apparent that clubfoot is a heterogeneous disorder with a polygenetic threshold model explaining its inheritance patterns. Several recent genetic studies have identified a key developmental pathway, the PITX1-TBX4 transcriptional pathway, as being important in clubfoot etiology. Both PITX1 and TBX4 are uniquely expressed in the hindlimb, which helps explain the foot phenotype seen with mutations in these transcription factors. Future studies are needed to develop animal models to determine the exact mechanisms by which these genetic abnormalities cause clubfoot and to test other hypotheses of clubfoot pathogenesis. J Pediatr Orthop B 21: 7-9 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.
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