Polymicrogyria and absence of pineal gland due to PAX6 mutation - Wikidata - wikimedia - TriplyDB

Polymicrogyria and absence of pineal gland due to PAX6 mutation

Polymicrogyria and absence of pineal gland due to PAX6 mutation

http://www.wikidata.org/entity/Q28202580

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A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11 Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia Pax6 3' deletion results in aniridia, autism and mental retardation The third helix of the homeodomain of paired class homeodomain proteins acts as a recognition helix both for DNA and protein interactions PAX6 mutations: genotype-phenotype correlations Genes and brain malformations associated with abnormal neuron positioning A developmental and genetic classification for malformations of cortical development: update 2012 Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis Pax6 regulates the formation of the habenular nuclei by controlling the temporospatial expression of Shh in the diencephalon in vertebrates Evaluation of Pax6 mutant rat as a model for autism.Polymicrogyria: a common and heterogeneous malformation of cortical development.Genetics of the polymicrogyria syndromes.Exploiting human anatomical variability as a link between genome and cognome A reaction-diffusion model of human brain development.Pax6 Binds to Promoter Sequence Elements Associated with Immunological Surveillance and Energy Homeostasis in Brain of Aging Mice Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes 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 development genes and known syndromes Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.Regional Volume Decreases in the Brain of Pax6 Heterozygous Mutant Rats: MRI Deformation-Based Morphometry Cellular Basis of Pineal Gland Development: Emerging Role of Microglia as Phenotype Regulator.Aniridia.Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions Homeobox genes in the rodent pineal gland: roles in development and phenotype maintenance.Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.PAX6, brain structure and function in human adults: advanced MRI in aniridia.Assessment of PAX6 alleles in 66 families with aniridia.PAX6 aniridia and interhemispheric brain anomalies.Eye anomalies and neurological manifestations in patients with PAX6 mutations.The role of Pax6 in forebrain development.Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor.Pax6 influences expression patterns of genes involved in neuro- degeneration.Pineal Gland Agenesis: Review and Case Illustration.

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P2860

Polymicrogyria and absence of pineal gland due to PAX6 mutation

http://www.wikidata.org/entity/Q28202580

description

2003 nî lūn-bûn

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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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type

label

Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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prefLabel

Polymicrogyria and absence of pineal gland due to PAX6 mutation

@ast

Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Annals of Neurology

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Polymicrogyria and absence of pineal gland due to PAX6 mutation

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Amanda J Churchill

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Anthony T Moore

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John M Stevens

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Kathleen A Williamson

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Samantha L Free

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Sanjay M Sisodiya

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Simon D Shorvon

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Tejal N Mitchell

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658-663

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scholarly article

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10.1002/ANA.10576

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5

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53

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Veronica van Heyningen

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2003-05-01T00:00:00Z

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12731001

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