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Literature DB >> 20104600

Early pathogenesis of holoprosencephaly.

Abstract

Holoprosencephaly (HPE) is one of the most common malformations encountered in early human embryos. It is assumed that more than 90% of HPE embryos die in utero and are eliminated by spontaneous abortion. Embryonic HPE displays some characteristic craniofacial phenotypes, which are not necessarily comparable to those in postnatal HPE cases. In this article, we summarize our studies on HPE in human embryos and discuss the pathogenesis of HPE malformations. 2010 Wiley-Liss, Inc.

Entities: Disease Species

Mesh：

Year: 2010 PMID： 20104600 DOI： 10.1002/ajmg.c.30248

Source DB: PubMed Journal: Am J Med Genet C Semin Med Genet ISSN： 1552-4868 Impact factor: 3.908

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Cited

13 in total

Review 1. Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors: Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal: Am J Med Genet C Semin Med Genet Date: 2011-10-17 Impact factor: 3.908

2. Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.

Authors: Emily F Kauvar; Ping Hu; Daniel E Pineda-Alvarez; Benjamin D Solomon; Amalia Dutra; Evgenia Pak; Brooke Blessing; Virginia Proud; Alan L Shanske; Cathy A Stevens; Jill A Rosenfeld; Lisa G Shaffer; Erich Roessler; Maximilian Muenke
Journal: Mol Genet Metab Date: 2010-12-21 Impact factor: 4.797

3. Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Authors: Sungkook Hong; Ping Hu; Erich Roessler; Tommy Hu; Maximilian Muenke
Journal: Hum Mol Genet Date: 2018-06-01 Impact factor: 6.150

Review 4. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Authors: Anna Petryk; Daniel Graf; Ralph Marcucio
Journal: Wiley Interdiscip Rev Dev Biol Date: 2014-10-22 Impact factor: 5.814

9. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.

Authors: Mingi Hong; Robert S Krauss
Journal: PLoS Genet Date: 2012-10-11 Impact factor: 5.917

10. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.

Authors: Mingi Hong; Robert S Krauss
Journal: PLoS One Date: 2013-11-11 Impact factor: 3.240

Early pathogenesis of holoprosencephaly.

Review 1. Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

2. Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.

3. Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Review 4. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Review 5. Holoprosencephaly: recommendations for diagnosis and management.

6. Δ9-Tetrahydrocannabinol inhibits Hedgehog-dependent patterning during development.

Review 7. Modeling the complex etiology of holoprosencephaly in mice.

8. Ethanol itself is a holoprosencephaly-inducing teratogen.

9. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.

10. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.