Literature DB >> 19487816

Pathogenesis of holoprosencephaly.

Xin Geng1, Guillermo Oliver.   

Abstract

Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

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Year:  2009        PMID： 19487816      PMCID： PMC2689134          DOI： 10.1172/JCI38937

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


  108 in total

1.  Mouse Otx2 functions in the formation and patterning of rostral head.

Authors:  I Matsuo; S Kuratani; C Kimura; N Takeda; S Aizawa
Journal:  Genes Dev       Date:  1995-11-01       Impact factor: 11.361

2.  HNF-3 beta is essential for node and notochord formation in mouse development.

Authors:  S L Ang; J Rossant
Journal:  Cell       Date:  1994-08-26       Impact factor: 41.582

3.  Defective forebrain development in mice lacking gp330/megalin.

Authors:  T E Willnow; J Hilpert; S A Armstrong; A Rohlmann; R E Hammer; D K Burns; J Herz
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-06       Impact factor: 11.205

4.  Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome.

Authors:  M Kolf-Clauw; F Chevy; C Wolf; B Siliart; D Citadelle; C Roux
Journal:  Teratology       Date:  1996-09

5.  A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate.

Authors:  H Li; C Tierney; L Wen; J Y Wu; Y Rao
Journal:  Development       Date:  1997-02       Impact factor: 6.868

6.  Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

Authors:  U Schell; J Wienberg; A Köhler; P Bray-Ward; D E Ward; W G Wilson; W P Allen; R R Lebel; J R Sawyer; P L Campbell; D J Aughton; H H Punnett; E J Lammer; F T Kao; D C Ward; M Muenke
Journal:  Hum Mol Genet       Date:  1996-02       Impact factor: 6.150

7.  Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.

Authors:  C Chiang; Y Litingtung; E Lee; K E Young; J L Corden; H Westphal; P A Beachy
Journal:  Nature       Date:  1996-10-03       Impact factor: 49.962

8.  Inductive interactions direct early regionalization of the mouse forebrain.

Authors:  K Shimamura; J L Rubenstein
Journal:  Development       Date:  1997-07       Impact factor: 6.868

9.  Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.

Authors:  G Oliver; A Mailhos; R Wehr; N G Copeland; N A Jenkins; P Gruss
Journal:  Development       Date:  1995-12       Impact factor: 6.868

Review 10.  Longitudinal organization of the anterior neural plate and neural tube.

Authors:  K Shimamura; D J Hartigan; S Martinez; L Puelles; J L Rubenstein
Journal:  Development       Date:  1995-12       Impact factor: 6.868
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  39 in total

1.  BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning.

Authors:  Yu-Ping Yang; Ryan M Anderson; John Klingensmith
Journal:  Hum Mol Genet       Date:  2010-05-27       Impact factor: 6.150

2.  Signaling by SHH rescues facial defects following blockade in the brain.

Authors:  H Jonathan Chong; Nathan M Young; Diane Hu; Juhee Jeong; Andrew P McMahon; Benedikt Hallgrimsson; Ralph S Marcucio
Journal:  Dev Dyn       Date:  2012-02       Impact factor: 3.780

3.  Proceedings of the 2012 National Toxicology Program Satellite Symposium.

Authors:  Susan A Elmore; Brian R Berridge; Michael C Boyle; Michelle C Cora; Mark J Hoenerhoff; Linda Kooistra; Victoria A Laast; James P Morrison; Deepa Rao; Matthias Rinke; Katsuhiko Yoshizawa
Journal:  Toxicol Pathol       Date:  2012-12-21       Impact factor: 1.902

4.  Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning.

Authors:  Kenichiro Taniguchi; Anoush E Anderson; Tiffany A Melhuish; Anne L Carlton; Arkadi Manukyan; Ann E Sutherland; David Wotton
Journal:  Eur J Hum Genet       Date:  2016-12-07       Impact factor: 4.246

5.  "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.

Authors:  Krishnan Nagarajan; Elango Swamiappan; Sathiaprabhu Anbazhagan; Ashwin Dalal; Subathra Adithan; Timo Krings
Journal:  Interv Neuroradiol       Date:  2018-03-28       Impact factor: 1.610

Review 6.  Dispatching Sonic Hedgehog: Molecular Mechanisms Controlling Deployment.

Authors:  Eric T Hall; Elizabeth R Cleverdon; Stacey K Ogden
Journal:  Trends Cell Biol       Date:  2019-03-06       Impact factor: 20.808

7.  Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Authors:  Cedrik Tekendo-Ngongang; Paul Kruszka; Ariel F Martinez; Maximilian Muenke
Journal:  Clin Genet       Date:  2019-07-15       Impact factor: 4.438

Review 8.  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.  Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.

Authors:  Wei Zhang; Mingi Hong; Gyu-un Bae; Jong-Sun Kang; Robert S Krauss
Journal:  Dis Model Mech       Date:  2010-12-23       Impact factor: 5.758

10.  Cubilin, a high affinity receptor for fibroblast growth factor 8, is required for cell survival in the developing vertebrate head.

Authors:  Olivier Cases; Aitana Perea-Gomez; Diego P Aguiar; Anders Nykjaer; Sabine Amsellem; Jacqueline Chandellier; Muriel Umbhauer; Silvia Cereghini; Mette Madsen; Jérôme Collignon; Pierre Verroust; Jean-François Riou; Sophie E Creuzet; Renata Kozyraki
Journal:  J Biol Chem       Date:  2013-04-16       Impact factor: 5.157
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