(Q24318295)

English

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Intraflagellar transport 140

1 reference

GOA release 2020-03-11

Intraflagellar transport 140

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

Miriam Schmidts

1

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Europe PubMed Central

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24 February 2020

5

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Europe PubMed Central

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24 February 2020

Nataliya Di Donato

13

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24 February 2020

16

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Europe PubMed Central

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24 February 2020

Mirjana Brankovic-Magic

24

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24 February 2020

Gregory J. Pazour

26

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24 February 2020

Peter J Scambler

28

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24 February 2020

29

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24 February 2020

20

object named as

Matthew E Hurles

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24 February 2020

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Valeska Frank

2

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24 February 2020

Tobias Eisenberger

3

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24 February 2020

Saeed Al Turki

4

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24 February 2020

Dinu Antony

6

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24 February 2020

Suzanne Rix

7

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24 February 2020

Christian Decker

8

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24 February 2020

Nadine Bachmann

9

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Europe PubMed Central

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24 February 2020

Martin Bald

10

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24 February 2020

Tobias Vinke

11

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Europe PubMed Central

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24 February 2020

Burkhard Toenshoff

12

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Europe PubMed Central

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24 February 2020

Theresa Neuhann

14

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Europe PubMed Central

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24 February 2020

Jane L Hartley

15

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24 February 2020

Radovan Bogdanović

17

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Amira Peco-Antić

18

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Europe PubMed Central

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24 February 2020

Christoph Mache

19

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Ivana Joksić

21

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Marija Guć-Šćekić

22

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jelena Dobricic

23

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Hanno J Bolz

25

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Europe PubMed Central

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24 February 2020

Philip L Beales

27

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Europe PubMed Central

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24 February 2020

Hannah M Mitchison

30

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Europe PubMed Central

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24 February 2020

Carsten Bergmann

31

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24 February 2020

language of work or name

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publication date

1 May 2013

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24 February 2020

1 reference

Europe PubMed Central

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24 February 2020

34

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24 February 2020

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

714-724

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

NEK1 mutations cause short-rib polydactyly syndrome type majewski

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

I-TASSER: a unified platform for automated protein structure and function prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Tools for integrated sequence-structure analysis with UCSF Chimera

1 reference

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19 March 2017

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

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19 March 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Ciliogenesis: building the cell's antenna

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation

1 reference

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19 March 2017

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

Cilia and Hedgehog responsiveness in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

19 March 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

The primary cilium: a signalling centre during vertebrate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

Centrioles, centrosomes, and cilia in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

7 April 2017

UCSF Chimera, MODELLER, and IMP: an integrated modeling system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

27 September 2017

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

27 September 2017

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

27 September 2017

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

27 September 2017

Making sense of cilia in disease: the human ciliopathies.

1 reference

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27 September 2017

An IFT-A protein is required to delimit functionally distinct zones in mechanosensory cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4226634

27 September 2017

TRPP2 and TRPV4 form a polymodal sensory channel complex

1 reference

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27 September 2017

Intraflagellar transport and functional analysis of genes required for flagellum formation in trypanosomes

1 reference

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27 September 2017

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

1 reference

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27 September 2017

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

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27 September 2017

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27 September 2017

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

1 reference

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27 September 2017

Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes

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27 September 2017

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

1 reference

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30 May 2018

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30 May 2018

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

1 reference

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29 November 2018

Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22294

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

release_7fccngsa3bfdtktqy7amlhfwua

1 reference

https://api.fatcat.wiki/v0/release/7fccngsa3bfdtktqy7amlhfwua

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23418020%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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