An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. (Q39552140)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27466187%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27466187%20AND%20SRC:MED&resulttype=core&format=json

short rib – polydactyly syndrome

19 March 2020

main subject

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author

Tomas Barta

5

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19 March 2020

Lukáš Trantírek

6

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19 March 2020

Ivan Duran

8

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19 March 2020

Iva Vesela

9

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19 March 2020

Hyuk Wan Ko

18

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19 March 2020

Pavel Krejčí

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University of Washington Center for Mendelian Genomics

19 March 2020

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University of Washington Center for Mendelian Genomics

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19 March 2020

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Deborah Nickerson

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19 March 2020

author name string

S Paige Taylor

1

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19 March 2020

Michaela Kunova Bosakova

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19 March 2020

Miroslav Varecha

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19 March 2020

Lukas Balek

4

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19 March 2020

Iva Jelinkova

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19 March 2020

Kimberly N Forlenza

10

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19 March 2020

Jorge H Martin

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19 March 2020

Ales Hampl

12

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19 March 2020

Michael Bamshad

14

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19 March 2020

Margie L Jaworski

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19 March 2020

Jieun Song

17

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19 March 2020

Daniel H Cohn

19

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19 March 2020

Deborah Krakow

20

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19 March 2020

publication date

27 July 2016

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19 March 2020

published in

Human Molecular Genetics

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19 March 2020

volume

25

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19 March 2020

issue

18

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19 March 2020

page(s)

3998-4011

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describes a project that uses

19 March 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

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15 June 2018

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15 June 2018

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

15 June 2018

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Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia

15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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

15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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Intraflagellar transport

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15 June 2018

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Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

15 June 2018

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

15 June 2018

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A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells

15 June 2018

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

15 June 2018

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

17 June 2018

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Molecular mechanisms of endochondral bone development.

17 June 2018

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17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291234

Intraflagellar transport is essential for endochondral bone formation.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291234

Progression of vertebrate limb development through SHH-mediated counteraction of GLI3.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291234

Freeze substitution followed by low melting point wax embedding preserves histomorphology and allows protein and mRNA localization techniques

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27466187

12 December 2020

inferred from PubMed ID database lookup

A novel MAP kinase regulates flagellar length in Chlamydomonas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27466187

12 December 2020

inferred from PubMed ID database lookup

PTHrP and skeletal development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27466187

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDW240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27466187%20AND%20SRC:MED&resulttype=core&format=json

release_c7s2v7csxne75mbageh2z6yy6m

19 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c7s2v7csxne75mbageh2z6yy6m

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27466187%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

27466187

1 reference