Literature DB >> 10826992

Genetics of ventral forebrain development and holoprosencephaly.

M Muenke1, P A Beachy.   

Abstract

The disease holoprosencephaly is the basis of the most common structural anomaly of the developing forebrain in humans. Numerous teratogens when administered during early gastrulation, have been associated with this condition. Recent studies have characterized molecules expressed in the prechordal plate which are critical for normal brain formation. Perturbation of signaling pathways involving these molecules have been shown to cause holoprosencephaly in humans and other organisms.

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Year:  2000        PMID: 10826992     DOI: 10.1016/s0959-437x(00)00084-8

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  83 in total

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2.  New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

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Journal:  Pediatr Dermatol       Date:  2011-10-13       Impact factor: 1.588

Review 3.  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

4.  Hedgehog pathway modulation by multiple lipid binding sites on the smoothened effector of signal response.

Authors:  Benjamin R Myers; Navdar Sever; Yong Chun Chong; James Kim; Jitendra D Belani; Scott Rychnovsky; J Fernando Bazan; Philip A Beachy
Journal:  Dev Cell       Date:  2013-08-15       Impact factor: 12.270

5.  A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

Authors:  R F Arauz; B D Solomon; D E Pineda-Alvarez; A L Gropman; J A Parsons; E Roessler; M Muenke
Journal:  Mol Syndromol       Date:  2010-04-22

6.  Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Authors:  Benjamin D Solomon; Felicitas Lacbawan; Sandra Mercier; Nancy J Clegg; Mauricio R Delgado; Kenneth Rosenbaum; Christèle Dubourg; Veronique David; Ann Haskins Olney; Lars-Erik Wehner; Ute Hehr; Sherri Bale; Aimee Paulussen; Hubert J Smeets; Emily Hardisty; Anna Tylki-Szymanska; Ewa Pronicka; Michelle Clemens; Elizabeth McPherson; Raoul C M Hennekam; Jin Hahn; Elaine Stashinko; Eric Levey; Dagmar Wieczorek; Elizabeth Roeder; Chayim Can Schell-Apacik; Carol W Booth; Ronald L Thomas; Sue Kenwrick; Derek A T Cummings; Sophia M Bous; Amelia Keaton; Joan Z Balog; Donald Hadley; Nan Zhou; Robert Long; Jorge I Vélez; Daniel E Pineda-Alvarez; Sylvie Odent; Erich Roessler; Maximilian Muenke
Journal:  J Med Genet       Date:  2009-12-02       Impact factor: 6.318

7.  Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia.

Authors:  Sofia Fertuzinhos; Zeljka Krsnik; Yuka Imamura Kawasawa; Mladen-Roko Rasin; Kenneth Y Kwan; Jie-Guang Chen; Milos Judas; Masaharu Hayashi; Nenad Sestan
Journal:  Cereb Cortex       Date:  2009-02-20       Impact factor: 5.357

8.  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

9.  Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

Authors:  Dwight Cordero; Ralph Marcucio; Diane Hu; William Gaffield; Minal Tapadia; Jill A Helms
Journal:  J Clin Invest       Date:  2004-08       Impact factor: 14.808

10.  Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype.

Authors:  Lorenza Ciani; Anjla Patel; Nicholas D Allen; Charles ffrench-Constant
Journal:  Mol Cell Biol       Date:  2003-05       Impact factor: 4.272

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