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Genetic regulation of embryological limb development with relation to congenital limb deformity in humans

Genetic regulation of embryological limb development with relation to congenital limb deformity in humans
Genetic regulation of embryological limb development with relation to congenital limb deformity in humans
Over the last 15 years, great improvements in genetic engineering and genetic manipulation strategies have led to significant advances in the understanding of the genetics governing embryological limb development. This field of science continues to develop, and the complex genetic interactions and signalling pathways are still not fully understood. In this review we will discuss the roles of the principle genes involved in the three-dimensional patterning of the developing limb and will discuss how errors in these signalling cascades correlate to congenital limb deformity in humans. This review is aimed at orthopaedic surgeons wishing to understand the principles of congenital limb deformity related to genetic signalling errors. It is by no means a comprehensive study of the molecular genetics governing the complex interactions involved in each step of limb development. There are however many syndromes involving limb deformity for which the molecular causes are unknown.
limb development, limb patterning, genetic regulation, hox genes, retinoic acid
1863-2521
1-9
Barham, Guy
ebb38791-42fe-40bc-97de-0520e2d7573b
Clarke, Nicholas M.P.
76688c21-d51e-48fa-a84d-deec66baf8ac
Barham, Guy
ebb38791-42fe-40bc-97de-0520e2d7573b
Clarke, Nicholas M.P.
76688c21-d51e-48fa-a84d-deec66baf8ac

Barham, Guy and Clarke, Nicholas M.P. (2008) Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. Journal of Children's Orthopaedics, 2 (1), 1-9. (doi:10.1007/s11832-008-0076-2).

Record type: Article

Abstract

Over the last 15 years, great improvements in genetic engineering and genetic manipulation strategies have led to significant advances in the understanding of the genetics governing embryological limb development. This field of science continues to develop, and the complex genetic interactions and signalling pathways are still not fully understood. In this review we will discuss the roles of the principle genes involved in the three-dimensional patterning of the developing limb and will discuss how errors in these signalling cascades correlate to congenital limb deformity in humans. This review is aimed at orthopaedic surgeons wishing to understand the principles of congenital limb deformity related to genetic signalling errors. It is by no means a comprehensive study of the molecular genetics governing the complex interactions involved in each step of limb development. There are however many syndromes involving limb deformity for which the molecular causes are unknown.

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More information

Published date: February 2008
Keywords: limb development, limb patterning, genetic regulation, hox genes, retinoic acid

Identifiers

Local EPrints ID: 60884
URI: http://eprints.soton.ac.uk/id/eprint/60884
ISSN: 1863-2521
PURE UUID: 2a848d51-26d4-46fe-9a1e-444acc961fb0

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Date deposited: 23 Sep 2008
Last modified: 15 Mar 2024 11:21

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Author: Guy Barham

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