PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. - Test2 - elhamkhani - TriplyDB

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

http://www.wikidata.org/entity/Q33953356

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Analysis of variation at transcription factor binding sites in Drosophila and humans Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence PAX6 gene variations associated with aniridia in south India A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11 Heterozygous mutations of OTX2 cause severe ocular malformations Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia Sox2 and Pou2f1 interact to control lens and olfactory placode development Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2 The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis Id2 is required for specification of dopaminergic neurons during adult olfactory neurogenesis Evaluation of Pax6 mutant rat as a model for autism.Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders Identification of differentially expressed genes in mouse Pax6 heterozygous lenses.Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse Positive autoregulation of the transcription factor Pax6 in response to increased levels of either of its major isoforms, Pax6 or Pax6(5a), in cultured cells Pax6 Binds to Promoter Sequence Elements Associated with Immunological Surveillance and Energy Homeostasis in Brain of Aging Mice Abnormal retinal development associated with FRMD7 mutations.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region.PAX6 downregulates miR-124 expression to promote cell migration during embryonic stem cell differentiation.Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing.Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.Pax6 is essential for the maintenance and multi-lineage differentiation of neural stem cells, and for neuronal incorporation into the adult olfactory bulb.The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreas Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.Increased functional connectivity in intrinsic neural networks in individuals with aniridia A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.Malformations of cortical development: clinical features and genetic causes PAX6 and congenital eye malformations.Eye selector logic for a coordinated cell cycle exit.Eye development genes and known syndromes

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P2860

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

http://www.wikidata.org/entity/Q33953356

description

2001 nî lūn-bûn

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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2001 թվականի հուլիսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

@ast

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

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type

label

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

@ast

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

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prefLabel

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

@ast

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

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Nature Genetics

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PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

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P2093

A T Moore

http://www.w3.org/2001/XMLSchema#string

B E Kendall

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C Willis

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J M Stevens

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K A Williamson

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S D Shorvon

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S L Free

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S M Sisodiya

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T N Mitchell

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P2888

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214-216

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10.1038/90042

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3

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28

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Veronica van Heyningen

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2001-07-01T00:00:00Z

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11908579

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11431688

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haploinsufficiency