Genetics of human left-right axis malformations

Kenjiro Kosaki, Brett Casey

研究成果: Article

90 引用 (Scopus)

抜粋

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.

元の言語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
発行部数1
DOI
出版物ステータスPublished - 1998 2
外部発表Yes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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