Biallelic variants in KIF14 cause intellectual disability with microcephaly (Q47855383)

http://europepmc.org/abstract/PMC/5839044

24 June 2018

title

Biallelic variants in KIF14 cause intellectual disability with microcephaly (English)

1 reference

http://europepmc.org/abstract/PMC/5839044

24 June 2018

main subject

microcephaly

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

1 reference

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5 June 2020

1 reference

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5 June 2020

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5 June 2020

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5 June 2020

1 reference

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5 June 2020

James R Lupski

1 reference

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5 June 2020

Jennifer McEvoy-Venneri

object named as

Jennifer McEvoy-Venneri

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Valentina Stanley

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5 June 2020

Hanne S Sorte

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Asbjørg Stray-Pedersen

object named as

Asbjørg Stray-Pedersen

1 reference

5 June 2020

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Stilianos Antonarakis

object named as

Stylianos E Antonarakis

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Michel Guipponi

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5 June 2020

author name string

Periklis Makrythanasis

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Reza Maroofian

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Damir Musaev

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Amera Elbadawy

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5 June 2020

Shalini N Jhangiani

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Zeynep H Coban Akdemir

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Kiely N James

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Denice Belandres

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Najmeh Ahangari

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Fatemeh Tara

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5 June 2020

Mohammad Doosti

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5 June 2020

Justyna Iwaszkiewicz

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5 June 2020

Vincent Zoete

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5 June 2020

Paul Hoff Backe

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5 June 2020

Hanan Hamamy

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5 June 2020

Ehsan Ghayoor Karimiani

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Arvid Heiberg

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Joseph G Gleeson

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5 June 2020

publication date

17 January 2018

1 reference

http://europepmc.org/abstract/PMC/5839044

24 June 2018

number of pages

1 reference

based on heuristic

inferred from page(s)

published in

European Journal of Human Genetics

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5 June 2020

volume

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issue

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5 June 2020

page(s)

330-339

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Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

5 June 2020

start time

17 January 2018

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

24 June 2018

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

24 June 2018

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KIF14 binds tightly to microtubules and adopts a rigor-like conformation

24 June 2018

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

24 June 2018

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The motor protein KIF14 inhibits tumor growth and cancer metastasis in lung adenocarcinoma

24 June 2018

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A targeted RNAi screen of the breast cancer genome identifies KIF14 and TLN1 as genes that modulate docetaxel chemosensitivity in triple-negative breast cancer

24 June 2018

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Kif14 mutation causes severe brain malformation and hypomyelination

24 June 2018

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The CC1-FHA tandem as a central hub for controlling the dimerization and activation of kinesin-3 KIF1A

24 June 2018

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24 June 2018

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24 June 2018

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

24 June 2018

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24 June 2018

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24 June 2018

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24 June 2018

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24 June 2018

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24 June 2018

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KIF14 messenger RNA expression is independently prognostic for outcome in lung cancer

24 June 2018

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ASPM and citron kinase co-localize to the midbody ring during cytokinesis

24 June 2018

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KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers

24 June 2018

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24 June 2018

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Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis

24 June 2018

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24 June 2018

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24 June 2018

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Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly

24 June 2018

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14 August 2018

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14 August 2018

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Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41431-017-0088-9

10.1038/S41431-017-0088-9

21 January 2018

Identifiers

DOI

1 reference

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Dimensions Publication ID

5 June 2020

0 references

1 reference

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5 June 2020

PubMed publication ID

29343805

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29343805%20AND%20SRC:MED&resulttype=core&format=json