Literature DB >> 19308596

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

Guy Barham1, Nicholas M P Clarke.   

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.

Entities:  

Year:  2008        PMID： 19308596      PMCID： PMC2656784          DOI： 10.1007/s11832-008-0076-2

Source DB:  PubMed          Journal:  J Child Orthop        ISSN： 1863-2521            Impact factor:   1.548


  31 in total

Review 1.  Patterning systems--from one end of the limb to the other.

Authors:  C Tickle
Journal:  Dev Cell       Date:  2003-04       Impact factor: 12.270

Review 2.  Finger or toe: the molecular basis of limb identity.

Authors:  Malcolm Logan
Journal:  Development       Date:  2003-12       Impact factor: 6.868

3.  Positional signalling and specification of digits in chick limb morphogenesis.

Authors:  C Tickle; D Summerbell; L Wolpert
Journal:  Nature       Date:  1975-03-20       Impact factor: 49.962

4.  Limb development in mouse embryos. I. Analysis of teratogenic effects of retinoic acid.

Authors:  D M Kochhar
Journal:  Teratology       Date:  1973-06

5.  The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity.

Authors:  C Rodriguez-Esteban; T Tsukui; S Yonei; J Magallon; K Tamura; J C Izpisua Belmonte
Journal:  Nature       Date:  1999-04-29       Impact factor: 49.962

Review 6.  Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Authors:  Muhammad Faiyaz-Ul-Haque; Wasim Ahmad; Abdul Wahab; Sayedul Haque; Anser C Azim; Syed H E Zaidi; Ahmad S Teebi; Mahmud Ahmad; Daniel H Cohn; Teepu Siddique; Lap-Chee Tsui
Journal:  Am J Med Genet       Date:  2002-07-22

7.  Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo.

Authors:  Pooja Agarwal; John N Wylie; Juan Galceran; Oksana Arkhitko; Cuiling Li; Chuxia Deng; Rudolf Grosschedl; Benoit G Bruneau
Journal:  Development       Date:  2003-02       Impact factor: 6.868

Review 8.  Limb malformations and the human HOX genes.

Authors:  Frances R Goodman
Journal:  Am J Med Genet       Date:  2002-10-15

Review 9.  Revisiting the role of retinoid signaling in skeletal development.

Authors:  Andrea D Weston; Lisa M Hoffman; T Michael Underhill
Journal:  Birth Defects Res C Embryo Today       Date:  2003-05

10.  Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb.

Authors:  A Vogel; C Rodriguez; J C Izpisúa-Belmonte
Journal:  Development       Date:  1996-06       Impact factor: 6.868
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  13 in total

Review 1.  Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Authors:  Eva Bermejo-Sánchez; Lourdes Cuevas; Emmanuelle Amar; Marian K Bakker; Sebastiano Bianca; Fabrizio Bianchi; Mark A Canfield; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Csaba Siffel; Elena Szabova; María-Luisa Martínez-Frías
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

2.  Mirror foot: treatment of three cases and review of the literature.

Authors:  Hodaka Fukazawa; Hidehiko Kawabata; Yoshito Matsui
Journal:  J Child Orthop       Date:  2009-07-07       Impact factor: 1.548

3.  Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.

Authors:  Marilyn L Browne; Tonia C Carter; Denise M Kay; Devon Kuehn; Lawrence C Brody; Paul A Romitti; Aiyi Liu; Michele Caggana; Charlotte M Druschel; James L Mills
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802

4.  Maternal periconceptional alcohol consumption and congenital limb deficiencies.

Authors:  Kristin M Caspers Conway; Paul A Romitti; Lewis Holmes; Richard S Olney; Sandra D Richardson
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2014-08-18

5.  Developmental and genetic origins of murine long bone length variation.

Authors:  Thomas J Sanger; Elizabeth A Norgard; L Susan Pletscher; Michael Bevilacqua; Victoria R Brooks; Linda J Sandell; James M Cheverud
Journal:  J Exp Zool B Mol Dev Evol       Date:  2010-12-01       Impact factor: 2.656

6.  The molecular genetics of human appendicular skeleton.

Authors:  Safeer Ahmad; Muhammad Zeeshan Ali; Muhammad Muzammal; Fayaz Ahmad Mir; Muzammil Ahmad Khan
Journal:  Mol Genet Genomics       Date:  2022-07-30       Impact factor: 2.980

7.  Patients with Congenital Limb Anomaly Show Short Telomere, Shutdown of Telomerase and Deregulated Expression of Various Telomere-Associated Proteins in Peripheral Blood Mononuclear Cells-A Case Series.

Authors:  Jayitri Mazumdar; Priyanka Chowdhury; Tunisha Bhattacharya; Badal Chandra Mondal; Utpal Ghosh
Journal:  J Clin Diagn Res       Date:  2017-08-01

8.  Maternal periconceptional exposure to cigarette smoking and congenital limb deficiencies.

Authors:  Kristin M Caspers; Paul A Romitti; Shao Lin; Richard S Olney; Lewis B Holmes; Martha M Werler
Journal:  Paediatr Perinat Epidemiol       Date:  2013-07-31       Impact factor: 3.980

9.  Upregulation of long non-coding RNA HIF 1α-anti-sense 1 induced by transforming growth factor-β-mediated targeting of sirtuin 1 promotes osteoblastic differentiation of human bone marrow stromal cells.

Authors:  Yao Xu; Shilong Wang; Chaoliang Tang; Wenjun Chen
Journal:  Mol Med Rep       Date:  2015-10-01       Impact factor: 2.952

10.  The Story of the Hand.

Authors:  Sunil M Thirkannad; Rahul Patil
Journal:  Indian J Plast Surg       Date:  2021-07-05
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