ANALYSIS OF CONGENITAL BRAIN DISORDES ASSOCIATED WITH MUTATIONS IN EMX AND OTX HOMEOBOX GENES

Pubblicazioni Scientifiche

• 1996 GENOMICS

  cDNA sequence, map, and expression of the murine homolog of GTBP, a DNA mismatch repair gene

• 1997 NEUROLOGY

  Familial schizencephaly associated with EMX2 mutation

• 1996 MECHANISMS OF DEVELOPMENT

  EMX1 homeoprotein is expressed in cell nuclei of the developing cerebral cortex and in the axons of the olfactory sensory neurons

• 2000 JOURNAL OF NEUROSCIENCE

  The lack of Emx2 causes impairment of Reelin signaling and defects of neuronal migration in the developing cerebral cortex

• 2000 HUMAN MOLECULAR GENETICS

  A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression

• 1997 EUROPEAN JOURNAL OF HUMAN GENETICS

  A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2

• 1997 MECHANISMS OF DEVELOPMENT

  Inactivation of the zebrafish homologue of Chx10 by antisense oligonucleotides causes eye malformations similar to the ocular retardation phenotype

• 1996 DEVELOPMENT

  Dentate gyrus formation requires Emx2

• 1996 MECHANISMS OF DEVELOPMENT

  OTX2 homeoprotein in the developing central nervous system and migratory cells of the olfactory area

• 1997 DEVELOPMENT

  Activating and repressing signals in head development: The role of Xotx1 and Xotx2

• 1997 JOURNAL OF NEUROSCIENCE

  Implication of OTX2 in pigment epithelium determination and neural retina differentiation

• 1998 JOURNAL OF BIOLOGICAL CHEMISTRY

  Regulatory interactions between the human HOXB1, HOXB2, and HOXB3 proteins and the upstream sequence of the Otx2 gene in embryonal carcinoma cells

• 1997 PROCEEDINGS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES

  Evolution of Emx genes and brain development in vertebrates

• 2001 PROGRESS IN NEUROBIOLOGY

  Otx genes in brain morphogenesis

• 1997 DEVELOPMENTAL BIOLOGY

  Branchial HOX gene expression and human craniofacial development

• 1998 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE

  Body plan genes and human malformation

• 1997 BIOESSAYS

  Transcription factors and head formation in vertebrates