First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

Item
http://www.wikidata.org/entity/Q24674679
Mutations in the human SIX3 gene in holoprosencephaly are loss of functionExpression of Six3 Opposite Strand (Six3OS) during mouse embryonic developmentHaploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephalyPrenatal evaluation of atelencephaly.Holoprosencephaly.SIX3, a tumor suppressor, inhibits astrocytoma tumorigenesis by transcriptional repression of AURKA/B.The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionOptix defines a neuroepithelial compartment in the optic lobe of the Drosophila brain.Rhombencephalosynapsis - isolated anomaly or complex malformation?Comprehensive characterization of the cis-regulatory code responsible for the spatio-temporal expression of olSix3.2 in the developing medaka forebrain.A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish.Comparative analysis of Six 3 and Six 6 distribution in the developing and adult mouse brain.Haploinsufficiency of SIX3 Abolishes Male Reproductive Behavior Through Disrupted Olfactory Development, and Impairs Female Fertility Through Disrupted GnRH Neuron Migration.A novel SIX3 mutation segregates with holoprosencephaly in a large family.
P2860

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

Item
http://www.wikidata.org/entity/Q24674679
description
2005 nî lūn-bûn
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2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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First occurrence of aprosencep ...... n our series of SIX3 mutations
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