Familial congenital diaphragmatic hernia: is an imprinting mechanism involved?
HFZ6 corresponds to the human frizzled-6 gene and is a member of the family of frizzled genes that encode receptors for Wnt proteins, which are secreted proteins involved in cell-cell interaction during embryonic development and tumorigenesis. 16 Moreover, these frizzled genes are homologous to the...
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| Veröffentlicht in: | Journal of medical genetics 1999-07, Vol.36 (7), p.578-579 |
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| creator | AUSTIN-WARD, ENRIQUE DANIEL TAUCHER, SILVIA CASTILLO |
| description | HFZ6 corresponds to the human frizzled-6 gene and is a member of the family of frizzled genes that encode receptors for Wnt proteins, which are secreted proteins involved in cell-cell interaction during embryonic development and tumorigenesis. 16 Moreover, these frizzled genes are homologous to the Drosophila frizzled gene family, a group of homeobox genes determining morphogenesis and planar polarity phenotypes both in Drosophila and vertebrates. 17-19 Frizzled genes have been thought to be related to spatial control during the embryological development of various structures, in particular the heart. 20 Other authors 21-24 and ourselves 25 have found that when CDH is accompanied by other anomalies, these usually involve the heart and CNS, suggesting a developmental association. |
| doi_str_mv | 10.1136/jmg.36.7.578 |
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| subjects | Chromosomes Chromosomes, Human, Pair 8 Female Frizzled Receptors Genes Genomic Imprinting Hernia, Diaphragmatic - genetics Hernias Humans Hypotheses Insects Letters to the Editor Male Pedigree Proteins - genetics Translocation, Genetic |
| title | Familial congenital diaphragmatic hernia: is an imprinting mechanism involved? |
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