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Literature DB >> 29786759

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.

Xiuya Yu¹, Liyuan Hu¹, Xu Liu¹, Guodong Zhan¹, Mei Mei¹, Huijun Wang², Xiaohua Zhang³, Zilong Qiu⁴, Wenhao Zhou^1,2, Lin Yang^5,6.

Abstract

Entities: Gene

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Year: 2018 PMID： 29786759 PMCID： PMC6129248 DOI： 10.1007/s12264-018-0236-4

Source DB: PubMed Journal: Neurosci Bull ISSN： 1995-8218 Impact factor: 5.203

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15 in total

1. Expanding the clinical spectrum of MYCN-related Feingold syndrome.

Authors: Alexandra Tészás; Rowdy Meijer; Hans Scheffer; Petra Gyuris; György Kosztolányi; Hans van Bokhoven; Richard Kellermayer
Journal: Am J Med Genet A Date: 2006-10-15 Impact factor: 2.802

2. Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Authors: Bettina Blaumeiser; Barbara Oehl-Jaschkowitz; Wiktor Borozdin; Jürgen Kohlhase
Journal: Am J Med Genet A Date: 2008-09-01 Impact factor: 2.802

Review 3. The Yin and Yang of Wnt/Ryk axon guidance in development and regeneration.

Authors: Charlotte E J Clark; Yaobo Liu; Helen M Cooper
Journal: Sci China Life Sci Date: 2014-03-18 Impact factor: 6.038

4. Exome sequencing identifies PDE4D mutations in acrodysostosis.

Authors: Hane Lee; John M Graham; David L Rimoin; Ralph S Lachman; Pavel Krejci; Stuart W Tompson; Stanley F Nelson; Deborah Krakow; Daniel H Cohn
Journal: Am J Hum Genet Date: 2012-03-29 Impact factor: 11.025

5. Linkage of ischemic stroke to the PDE4D region on 5q in a Swedish population.

Authors: Sofie Nilsson-Ardnor; Per-Gunnar Wiklund; Petter Lindgren; Anna Karin Nilsson; Tomas Janunger; Stefan A Escher; Björn Hallbeck; Birgitta Stegmayr; Kjell Asplund; Dan Holmberg
Journal: Stroke Date: 2005-07-14 Impact factor: 7.914

6. Ubiquitin E3 ligase Nedd4-1 acts as a downstream target of PI3K/PTEN-mTORC1 signaling to promote neurite growth.

Authors: Hung-En Hsia; Rohit Kumar; Rossella Luca; Michiko Takeda; Julien Courchet; Jonathan Nakashima; Shumin Wu; Sandra Goebbels; Wenlin An; Britta J Eickholt; Franck Polleux; Daniela Rotin; Hong Wu; Moritz J Rossner; Claudia Bagni; Jeong-Seop Rhee; Nils Brose; Hiroshi Kawabe
Journal: Proc Natl Acad Sci U S A Date: 2014-08-25 Impact factor: 11.205

7. Transcriptional profiling of the Sonic hedgehog response: a critical role for N-myc in proliferation of neuronal precursors.

Authors: Trudy G Oliver; Linda L Grasfeder; Audra L Carroll; Constanze Kaiser; Christine L Gillingham; Simon M Lin; Rasika Wickramasinghe; Matthew P Scott; Robert J Wechsler-Reya
Journal: Proc Natl Acad Sci U S A Date: 2003-05-30 Impact factor: 11.205

8. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Authors: Stephen R F Twigg; Deborah Lloyd; Dagan Jenkins; Nursel E Elçioglu; Christopher D O Cooper; Nouriya Al-Sannaa; Ali Annagür; Gabriele Gillessen-Kaesbach; Irina Hüning; Samantha J L Knight; Judith A Goodship; Bernard D Keavney; Philip L Beales; Opher Gileadi; Simon J McGowan; Andrew O M Wilkie
Journal: Am J Hum Genet Date: 2012-10-11 Impact factor: 11.025

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.

1. Expanding the clinical spectrum of MYCN-related Feingold syndrome.

2. Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Review 3. The Yin and Yang of Wnt/Ryk axon guidance in development and regeneration.

4. Exome sequencing identifies PDE4D mutations in acrodysostosis.

5. Linkage of ischemic stroke to the PDE4D region on 5q in a Swedish population.

6. Ubiquitin E3 ligase Nedd4-1 acts as a downstream target of PI3K/PTEN-mTORC1 signaling to promote neurite growth.

7. Transcriptional profiling of the Sonic hedgehog response: a critical role for N-myc in proliferation of neuronal precursors.

8. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

9. CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.

10. Axonal deficits in young adults with High Functioning Autism and their impact on processing speed.

1. Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.

2. Molecular mechanisms underlying nuchal hump formation in dolphin cichlid, Cyrtocara moorii.