Distal limb malformations: underlying mechanisms and clinical associations. Clin Genet 2001 Sep;60(3):165-72
Date
10/12/2001Pubmed ID
11595015DOI
10.1034/j.1399-0004.2001.600301.xScopus ID
2-s2.0-0034775067 (requires institutional sign-in at Scopus site) 33 CitationsAbstract
Congenital malformations of the extremities are conspicuous and have been described through the ages. Over the past decade, a wealth of knowledge has been generated regarding the genetic regulation of limb development and the underlying molecular mechanisms. Recent studies have identified several of the signaling molecules, growth factors, and transcriptional regulators involved in the initiation and maintenance of the apical ectodermal ridge (AER) as well as the molecular markers defining the three axes of the developing limb. Studies of abnormal murine phenotypes have uncovered the role played by genes such as p63 and Dactylin in the maintenance of AER activity. These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.
Author List
Sifakis S, Basel D, Ianakiev P, Kilpatrick M, Tsipouras PAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsDNA-Binding Proteins
F-Box Proteins
Genes, Tumor Suppressor
Humans
Limb Deformities, Congenital
Membrane Proteins
Mice
Mice, Knockout
Models, Biological
Models, Genetic
Mutation
Phenotype
Phosphoproteins
Proteins
Signal Transduction
Trans-Activators
Transcription Factors
Tumor Suppressor Proteins
