Literature DB >> 12668593

How a Hedgehog might see holoprosencephaly.

Erich Roessler1, Maximilian Muenke.   

Abstract

Detailed knowledge of the Hedgehog signaling pathway is fundamental to an understanding of vertebrate development as well as several birth defects in humans. Here we review various aspects of Hedgehog synthesis, secretion, distribution and function in the context of the most common anomaly of the developing forebrain in humans, holoprosencephaly. Genetic studies in numerous model organisms are beginning to elucidate the factors that are likely candidates for the causes of early embryonic defects in humans, including holoprosencephaly.

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Year:  2003        PMID: 12668593     DOI: 10.1093/hmg/ddg058

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  20 in total

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4.  Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Authors:  Daniel E Pineda-Alvarez; Erich Roessler; Ping Hu; Kshitij Srivastava; Benjamin D Solomon; C Evan Siple; Chen-Ming Fan; Maximilian Muenke
Journal:  Hum Genet       Date:  2011-08-13       Impact factor: 4.132

5.  The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Authors:  Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
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6.  Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

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Journal:  Hum Genet       Date:  2008-12-05       Impact factor: 4.132

7.  Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

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