Genetics of human left-right axis malformations

Kenjiro Kosaki, Brett Casey

研究成果: Article査読

97 被引用数 (Scopus)

抄録

Like all vertebrates, humans establish anatomic left-right asymmetry during embryogenesis. Variation from this normal arrangement (situs solitus) results in heterotaxy, expressed either as randomization (situs ambiguus) or complete reversal (situs inversus) of normal organ position. Familial heterotaxy occurs with autosomal dominant, recessive, and X-linked inheritance. All possible situs variants - solitus, ambiguus, inversus - can appear among some heterotaxy families. Positional cloning has led to the identification of a gene on the X chromosome responsible for some cases of human heterotaxy. In addition to their medical relevance, human studies provide a unique contribution to our understanding of left-right axis development among all vertebrates.

本文言語English
ページ(範囲)89-99
ページ数11
ジャーナルSeminars in Cell and Developmental Biology
9
1
DOI
出版ステータスPublished - 1998 2
外部発表はい

ASJC Scopus subject areas

  • 発生生物学
  • 細胞生物学

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