Developmental disruptions underlying brain abnormalities in ciliopathies. - Test2 - elhamkhani - TriplyDB

Developmental disruptions underlying brain abnormalities in ciliopathies.

Developmental disruptions underlying brain abnormalities in ciliopathies.

http://www.wikidata.org/entity/Q35709972

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Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.The progeroid gene BubR1 regulates axon myelination and motor function.The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system Type 3 Adenylyl Cyclase and Somatostatin Receptor 3 Expression Persists in Aged Rat Neocortical and Hippocampal Neuronal Cilia.Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Neuron's little helper: The role of primary cilia in neurogenesis.Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity.Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.Neuroanatomical and molecular correlates of cognitive and behavioural outcomes in hypogonadal males.APC sets the Wnt tone necessary for cerebral cortical progenitor development.Gli2 Rescues Delays in Brain Development Induced by Kif3a Dysfunction.Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos

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Developmental disruptions underlying brain abnormalities in ciliopathies.

http://www.wikidata.org/entity/Q35709972

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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Nature Communications

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Developmental disruptions underlying brain abnormalities in ciliopathies.

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E S Anton

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Holden Higginbotham

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Jackie Nichols

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Jiami Guo

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Jingjun Li

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Josua Hirt

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

Vladimir Ghukasyan

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P2860

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

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