Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2 - Wikidata - awgldk - TriplyDB

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

http://www.wikidata.org/entity/Q21202852

about

Role of Retinoic Acid-Metabolizing Cytochrome P450s, CYP26, in Inflammation and Cancer Globularity and language-readiness: generating new predictions by expanding the set of genes of interest FOXP2, retinoic acid, and language: a promising direction Genome-wide association studies identified multiple genetic loci for body size at four growth stages in Chinese Holstein cattle Functional consequences of copy number variants in miscarriage.Regulation of dendrite growth and maintenance by exocytosis.Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.The exocyst is required for photoreceptor ciliogenesis and retinal development.Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

P2860

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P2860

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

http://www.wikidata.org/entity/Q21202852

description

2013 nî lūn-bûn

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2013 թուականին հրատարակուած գիտական յօդուած

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2013 թվականին հրատարակված գիտական հոդված

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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name

Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Phenotypic and functional cons ...... urrent microdeletion of 2p13.2

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Cara Nelson

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Chansonette Badukke

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Jiadi Wen

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Sandra A Farrell

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Suzanne Lewis

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Ying Qiao

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P2860

Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Retinoic acid synthesis and signaling during early organogenesis

Exorcising the exocyst complex

Analyzing real-time PCR data by the comparative C(T) method

Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development

Notch signaling in human development and disease

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb

Targeted disruption of mammalian hairy and Enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects

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1

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Evica Rajcan-Separovic

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