Pathogenesis of holoprosencephaly

The full spectrum of holoprosencephaly-associated mutations within theZIC2gene in humans predicts loss-of-function as the predominant disease mechanism

(2009) Erich Roessler et al.   HUMAN MUTATION

Fetal ethanol exposure activates protein kinase a and impairsShh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly

(2008) Kazushi Aoto et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly

(2008) Xin Geng et al.   DEVELOPMENTAL CELL

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

(2008) Sabina Domené et al.   HUMAN MOLECULAR GENETICS

Zic2 -associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

(2008) Nicholas Warr et al.   HUMAN MOLECULAR GENETICS

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

(2008) Yongsu Jeong et al.   NATURE GENETICS

Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon

(2007) A. Lavado et al.   DEVELOPMENT

Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

(2007) Monica Hayhurst et al.   Developmental Neurobiology