PRUNE1: a disease-causing gene for secondary microcephaly.

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PRUNE1: a disease-causing gene for secondary microcephaly.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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PRUNE1: a disease-causing gene for secondary microcephaly.

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PRUNE1: a disease-causing gene for secondary microcephaly.

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PRUNE1: a disease-causing gene for secondary microcephaly.

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P1476

PRUNE1: a disease-causing gene for secondary microcephaly.

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P2093

Brunhilde Wirth

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Gül Serdaroglu

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Irmgard Hoelker

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Markus Storbeck

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Mert Karakaya

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Raoul Heller

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Sanem Yilmaz

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Sarenur Gökben

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Uluc Yis

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P2860

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Neural precursor cells are protected from apoptosis induced by trophic factor withdrawal or genotoxic stress by inhibitors of glycogen synthase kinase 3.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Point mutations in awdKpn which revert the prune/Killer of prune lethal interaction affect conserved residues that are involved in nucleoside diphosphate kinase substrate binding and catalysis.

Prune cAMP phosphodiesterase binds nm23-H1 and promotes cancer metastasis.

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

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e61

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scholarly article

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10.1093/BRAIN/AWX197

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English

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140

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2017-10-01T00:00:00Z

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28969376

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P921

microcephaly