(Q46904962)

http://europepmc.org/abstract/PMC/5686170

26 December 2017

title

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies (English)

1 reference

http://europepmc.org/abstract/PMC/5686170

26 December 2017

main subject

Si:dkey-243i1.1

1 reference

GOA release 2020-03-11

author

Fulya Taylan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Raquel Vaz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Katta Mohan Girisha

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Anna Lindstrand

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Phillip T Newton

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria Pettersson

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Andrei S Chagin

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Giedre Grigelioniene

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

A Hammarsjö

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Z Wang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

M Sedghi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

D Chitayat

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

K Neethukrishna

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

P Shannon

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

R Godoy

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

K Gowrishankar

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

J Nasiri

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

M Baktashian

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

L Guo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

W Hofmeister

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

G Nishimura

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

L Yan

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

N Matsumoto

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

N Miyake

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

S Ikegawa

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

A Nordgren

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

14 November 2017

1 reference

http://europepmc.org/abstract/PMC/5686170

26 December 2017

published in

Scientific Reports

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

15585

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

9 June 2020

copyright license

start time

14 November 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5686170/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1

0 references

cites work

Genes and molecular pathways underpinning ciliopathies

1 reference

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Motile and non-motile cilia in human pathology: from function to phenotypes

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

IFT46 plays an essential role in cilia development

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Proximity interactions among centrosome components identify regulators of centriole duplication

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping

24 May 2018

1 reference

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A general framework for estimating the relative pathogenicity of human genetic variants

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Organizing principles of mammalian nonsense-mediated mRNA decay

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

GEMINI: integrative exploration of genetic variation and genome annotations

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Qilin is essential for cilia assembly and normal kidney development in zebrafish

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

24 May 2018

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

24 May 2018

1 reference

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

When cilia go bad: cilia defects and ciliopathies

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

24 May 2018

1 reference

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A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

15 August 2018

1 reference

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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Nosology and classification of genetic skeletal disorders: 2015 revision.

15 August 2018

1 reference

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Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Origin and shaping of the laterality organ in zebrafish.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Development of the post-natal growth plate requires intraflagellar transport proteins

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5686170

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41598-017-15442-1

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41598-017-15442-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Metaphyseal acroscyphodysplasia

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41598-017-15442-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41598-017-15442-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29138412%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference