Search Results - "Gicquel, Isabelle"
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Stratum recruits Rab8 at Golgi exit sites to regulate the basolateral sorting of Notch and Sanpodo
Published in Development (Cambridge) (01-07-2018)“…In , the sensory organ precursor (SOP or pI cell) divides asymmetrically to give birth to daughter cells, the fates of which are governed by the differential…”
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Holoprosencephaly: An update on cytogenetic abnormalities
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15-02-2010)“…Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation…”
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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos
Published in Disease models & mechanisms (01-03-2013)“…Holoprosencephaly (HPE) is a common congenital defect that results from failed or incomplete forebrain cleavage. HPE is characterized by a wide clinical…”
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The Clathrin adaptor AP-1 and Stratum act in parallel pathways to control Notch activation in Drosophila sensory organ precursors cells
Published in Development (Cambridge) (10-01-2021)“…sensory organ precursors divide asymmetrically to generate pIIa/pIIb cells, the identity of which relies on activation of Notch at cytokinesis. Although Notch…”
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Clathrin adaptor AP-1 and Stratum act in parallel pathways to control Notch activation in Drosophila Sensory Organ Precursor Cells
Published in Development (Cambridge) (01-01-2021)“…Drosophila sensory organ precursors divide asymmetrically to generate pIIa/pIIb cells whose identity relies on activation of Notch at cytokinesis. While Notch…”
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Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene
Published in Human molecular genetics (15-08-2001)“…Hereditary haemochromatosis is an autosomal recessive disease which results in iron overload, and it is the most frequently inherited disorder in Caucasian…”
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Clathrin adaptor AP-1 and Stratum act in parallel pathways to control Notch activation in Drosophila Sensory Organ Precursor Cells
Published in Development (Cambridge) (01-01-2020)“…Drosophila sensory organ precursors divide asymmetrically to generate pIIa/pIIb cells whose identity relies on activation of Notch at cytokinesis. While Notch…”
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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos
Published in Development (Cambridge) (01-03-2013)Get full text
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Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development
Published in Neural development (23-12-2013)“…The generation of diverse neuronal types and subtypes from multipotent progenitors during development is crucial for assembling functional neural circuits in…”
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Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci
Published in Human mutation (01-08-2009)“…Holoprosencephaly (HPE) is the most frequent malformation of the brain. To date, 12 different HPE loci and 8 HPE genes have been identified from recurrent…”
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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases
Published in Journal of medical genetics (01-11-2011)“…Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. A large European…”
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Holoprosencephaly: An update on cytogenetic abnormalities: holoprosencephaly and cytogenetics
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15-02-2010)“…Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation…”
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MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly
Published in Human mutation (01-12-2007)“…Holoprosencephaly (HPE) is the most common developmental brain anomaly in human, associated with a wide spectrum of presentations. The etiology is…”
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NOTCH, a new signaling pathway implicated in holoprosencephaly
Published in Human molecular genetics (15-03-2011)“…Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been…”
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Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
Published in Human genetics (01-03-2006)“…Holoprosencephaly (HPE), the most common structural malformation of the forebrain in humans, can be detected early during pregnancy using prenatal…”
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Phenotypic variability of a 4q34 → qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother
Published in European journal of medical genetics (01-01-2007)“…Abstract Terminal deletions of the long arm of chromosome 4 are associated with a recognizable phenotype consisting of dysmorphic facial features, cleft…”
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Transcriptome variations in human CaCo-2 cells: a model for enterocyte differentiation and its link to iron absorption
Published in Genomics (San Diego, Calif.) (01-05-2004)“…Complete clinical expression of the HFE1 hemochromatosis is very likely modulated by genes linked to duodenal iron absorption, whose level is conditioned by…”
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18-P018 Identification of candidate genes for holoprosencephaly by array CGH and integrating gene network
Published in Mechanisms of development (01-08-2009)Get full text
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