Genetics of human left-right axis malformations

Kenjiro Kosaki, Brett Casey

研究成果: Article

87 引用 (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.

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
出版物ステータスPublished - 1998 2
外部発表Yes

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X-Linked Genes
Vertebrates
Heterotaxy Syndrome
Situs Inversus
Random Allocation
Embryonic Development
Organism Cloning
Left-Right Axis Malformations

ASJC Scopus subject areas

  • Developmental Biology

これを引用

Genetics of human left-right axis malformations. / Kosaki, Kenjiro; Casey, Brett.

:: Seminars in Cell and Developmental Biology, 巻 9, 番号 1, 02.1998, p. 89-99.

研究成果: Article

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