Search Results - (Author, Cooperation:M. Guipponi)
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1Latest Papers from Table of Contents or Articles in PressA. Letourneau ; F. A. Santoni ; X. Bonilla ; M. R. Sailani ; D. Gonzalez ; J. Kind ; C. Chevalier ; R. Thurman ; R. S. Sandstrom ; Y. Hibaoui ; M. Garieri ; K. Popadin ; E. Falconnet ; M. Gagnebin ; C. Gehrig ; A. Vannier ; M. Guipponi ; L. Farinelli ; D. Robyr ; E. Migliavacca ; C. Borel ; S. Deutsch ; A. Feki ; J. A. Stamatoyannopoulos ; Y. Herault ; B. van Steensel ; R. Guigo ; S. E. Antonarakis
Nature Publishing Group (NPG)
Published 2015Staff ViewPublication Date: 2015-12-04Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsPublished by: -
2Latest Papers from Table of Contents or Articles in PressA. Letourneau ; F. A. Santoni ; X. Bonilla ; M. R. Sailani ; D. Gonzalez ; J. Kind ; C. Chevalier ; R. Thurman ; R. S. Sandstrom ; Y. Hibaoui ; M. Garieri ; K. Popadin ; E. Falconnet ; M. Gagnebin ; C. Gehrig ; A. Vannier ; M. Guipponi ; L. Farinelli ; D. Robyr ; E. Migliavacca ; C. Borel ; S. Deutsch ; A. Feki ; J. A. Stamatoyannopoulos ; Y. Herault ; B. van Steensel ; R. Guigo ; S. E. Antonarakis
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-04-18Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Cells, Cultured ; Chromatin/chemistry/metabolism ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Mammalian/genetics ; DNA Replication Timing ; Down Syndrome/*genetics/pathology ; Female ; Fetus/cytology ; Fibroblasts ; Gene Expression Regulation/*genetics ; Genome/*genetics ; Histones/chemistry/metabolism ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Lysine/metabolism ; Male ; Methylation ; Mice ; Transcriptome/*genetics ; Twins, Monozygotic/geneticsPublished by: -
3Articles: DFG German National LicensesRoessler, E. ; Mittaz, L. ; Du, Y. ; Scott, H.S. ; Chang, J. ; Rossier, C. ; Guipponi, M. ; Matsuda, S.P.T. ; Muenke, M. ; Antonarakis, S.E.
Springer
Published 1999Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract. Holoprosencephaly (HPE) is the most common birth defect of the brain in humans. It involves various degrees of incomplete separation of the cerebrum into distinct left and right halves, and it is frequently accompanied by craniofacial anomalies. The HPE1 locus in human chromosome 21q22.3 is one of a dozen putative genetic loci implicated in causing HPE. Here, we report the complete gene structure of the human lanosterol synthase (LS) gene, which is located in this interval, and present its mutational analysis in HPE patients. We considered LS an excellent candidate HPE gene because of the requirement for cholesterol modification of the Sonic Hedgehog protein for the correct patterning activity of this HPE-associated protein. Despite extensive pedigree analysis of numerous polymorphisms, as well as complementation studies in yeast on one of the missense mutations, we find no evidence that the LS gene is in fact HPE1, implicating another gene located in this chromosomal region in HPE pathogenesis.Type of Medium: Electronic ResourceURL: