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

Pubblicazioni Scientifiche

• ADVANCES IN GENETICS, VOL 38

  Body plan genes and human malformation

• BIOESSAYS

  Transcription factors and head formation in vertebrates

• DEVELOPMENT

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

• DEVELOPMENTAL BIOLOGY

  Branchial HOX gene expression and human craniofacial development

• EUROPEAN JOURNAL OF HUMAN GENETICS

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

• GENOMICS

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

• HUMAN MOLECULAR GENETICS

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

• 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

• JOURNAL OF NEUROSCIENCE

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

• JOURNAL OF NEUROSCIENCE

  Implication of OTX2 in pigment epithelium determination and neural retina differentiation

• MECHANISMS OF DEVELOPMENT

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

• MECHANISMS OF DEVELOPMENT

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

• MECHANISMS OF DEVELOPMENT

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

• NEUROLOGY

  Familial schizencephaly associated with EMX2 mutation

• PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

  Evolution of Emx genes and brain development in vertebrates

• PROGRESS IN NEUROBIOLOGY

  Otx genes in brain morphogenesis