(Q41931303)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24128419%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

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

1 reference

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27 February 2020

1 reference

11

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27 February 2020

William T. Gibson

6

1 reference

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27 February 2020

Judith Goslin Hall

9

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27 February 2020

author name string

I Filges

1

1 reference

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27 February 2020

E Nosova

2

1 reference

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27 February 2020

E Bruder

3

1 reference

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27 February 2020

S Tercanli

4

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27 February 2020

K Townsend

5

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27 February 2020

B Röthlisberger

7

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27 February 2020

K Heinimann

8

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27 February 2020

C Y Gregory-Evans

10

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27 February 2020

P Miny

12

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27 February 2020

J M Friedman

13

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27 February 2020

publication date

18 November 2013

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27 February 2020

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27 February 2020

volume

86

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27 February 2020

issue

3

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27 February 2020

page(s)

220-228

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

27 February 2020

cites work

1 reference

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

De novo mutations in human genetic disease

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

21 January 2018

1 reference

Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.

21 January 2018

1 reference

TCTN3 mutations cause Mohr-Majewski syndrome

21 January 2018

1 reference

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

1 reference

Cilia in vertebrate development and disease

21 January 2018

1 reference

The cilia protein IFT88 is required for spindle orientation in mitosis

21 January 2018

1 reference

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

21 January 2018

1 reference

Cilia and cell cycle re-entry: more than a coincidence

21 January 2018

1 reference

Cilia, Wnt signaling, and the cytoskeleton

21 January 2018

1 reference

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

21 January 2018

1 reference

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

21 January 2018

1 reference

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

21 January 2018

1 reference

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

21 January 2018

1 reference

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

21 January 2018

1 reference

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

Identification and classification of 16 new kinesin superfamily (KIF) proteins in mouse genome

21 January 2018

1 reference

Intraflagellar transport motors in cilia: moving along the cell's antenna

21 January 2018

1 reference

RNA interference-mediated silencing of mitotic kinesin KIF14 disrupts cell cycle progression and induces cytokinesis failure

21 January 2018

1 reference

Kinesin and dynein superfamily proteins and the mechanism of organelle transport

21 January 2018

1 reference

Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice.

21 January 2018

1 reference

KLP38B: a mitotic kinesin-related protein that binds PP1

21 January 2018

1 reference

Kif14 mutation causes severe brain malformation and hypomyelination

21 January 2018

1 reference

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

21 January 2018

1 reference

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

21 January 2018

1 reference

Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality.

21 January 2018

1 reference

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

21 January 2018

1 reference

Ciliopathies: an expanding disease spectrum

21 January 2018

1 reference

The ciliopathies: a transitional model into systems biology of human genetic disease

21 January 2018

1 reference

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

21 January 2018

1 reference

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

21 January 2018

1 reference

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

21 January 2018

1 reference

Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

21 January 2018

1 reference

Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

21 January 2018

1 reference

Genital abnormalities in females with Bardet-Biedl syndrome

21 January 2018

1 reference

Dominant activation of the hedgehog signaling pathway alters development of the female reproductive tract.

21 January 2018

1 reference

Emerging roles for hedgehog-patched-Gli signal transduction in reproduction

21 January 2018

1 reference

KIF14 and citron kinase act together to promote efficient cytokinesis

21 January 2018

1 reference

A role for central spindle proteins in cilia structure and function

21 January 2018

1 reference

Relocation of Aurora B from centromeres to the central spindle at the metaphase to anaphase transition requires MKlp2

21 January 2018

1 reference

Novel function of beta-arrestin2 in the nucleus of mature spermatozoa

21 January 2018

1 reference

Beta-arrestin-mediated localization of smoothened to the primary cilium

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12301

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24128419%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

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