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Abnormal vertebral segmentation and the notch signaling pathway in man.

Publication ,  Journal Article
Turnpenny, PD; Alman, B; Cornier, AS; Giampietro, PF; Offiah, A; Tassy, O; Pourquié, O; Kusumi, K; Dunwoodie, S
Published in: Dev Dyn
June 2007

Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.

Duke Scholars

Published In

Dev Dyn

DOI

ISSN

1058-8388

Publication Date

June 2007

Volume

236

Issue

6

Start / End Page

1456 / 1474

Location

United States

Related Subject Headings

  • Spine
  • Signal Transduction
  • Receptors, Notch
  • Phenotype
  • Humans
  • Dysostoses
  • Disease Susceptibility
  • Developmental Biology
  • Animals
  • 3104 Evolutionary biology
 

Citation

APA
Chicago
ICMJE
MLA
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Turnpenny, P. D., Alman, B., Cornier, A. S., Giampietro, P. F., Offiah, A., Tassy, O., … Dunwoodie, S. (2007). Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn, 236(6), 1456–1474. https://doi.org/10.1002/dvdy.21182
Turnpenny, Peter D., Ben Alman, Alberto S. Cornier, Philip F. Giampietro, Amaka Offiah, Olivier Tassy, Olivier Pourquié, Kenro Kusumi, and Sally Dunwoodie. “Abnormal vertebral segmentation and the notch signaling pathway in man.Dev Dyn 236, no. 6 (June 2007): 1456–74. https://doi.org/10.1002/dvdy.21182.
Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn. 2007 Jun;236(6):1456–74.
Turnpenny, Peter D., et al. “Abnormal vertebral segmentation and the notch signaling pathway in man.Dev Dyn, vol. 236, no. 6, June 2007, pp. 1456–74. Pubmed, doi:10.1002/dvdy.21182.
Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn. 2007 Jun;236(6):1456–1474.
Journal cover image

Published In

Dev Dyn

DOI

ISSN

1058-8388

Publication Date

June 2007

Volume

236

Issue

6

Start / End Page

1456 / 1474

Location

United States

Related Subject Headings

  • Spine
  • Signal Transduction
  • Receptors, Notch
  • Phenotype
  • Humans
  • Dysostoses
  • Disease Susceptibility
  • Developmental Biology
  • Animals
  • 3104 Evolutionary biology