Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies (Q28585520)

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19 January 2020

title

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies (English)

2 references

31 January 2017

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19 January 2020

1 reference

GOA release 2020-03-11

author

Rachael Barry

7

1 reference

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19 January 2020

Robert G. Parton

10

1 reference

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19 January 2020

Kathryn V. Anderson

12

1 reference

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19 January 2020

Carol Wicking

14

1 reference

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19 January 2020

author name string

Alyson Ashe

1

2 references

31 January 2017

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19 January 2020

Liam Town

3

2 references

31 January 2017

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19 January 2020

Charles Ferguson

6

2 references

31 January 2017

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19 January 2020

Fredrik Olsson

8

2 references

31 January 2017

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19 January 2020

Emma Whitelaw

13

2 references

31 January 2017

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19 January 2020

Natalie C Butterfield

2

1 reference

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19 January 2020

Andrew D Courtney

4

1 reference

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19 January 2020

Ashley N Cooper

5

1 reference

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19 January 2020

Karel F Liem

9

1 reference

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19 January 2020

Brandon J Wainwright

11

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19 January 2020

publication date

6 January 2012

1 reference

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19 January 2020

published in

Human Molecular Genetics

2 references

31 January 2017

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19 January 2020

volume

21

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31 January 2017

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19 January 2020

issue

8

2 references

31 January 2017

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19 January 2020

page(s)

1808-1823

1 reference

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describes a project that uses

19 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3313797/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

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Complex interactions between genes controlling trafficking in primary cilia

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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

17 March 2017

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Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

17 March 2017

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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

17 March 2017

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A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

17 March 2017

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Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved

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

17 March 2017

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

17 March 2017

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Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

17 March 2017

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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

17 March 2017

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Functional dissection of Rab GTPases involved in primary cilium formation

17 March 2017

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The graded response to Sonic Hedgehog depends on cilia architecture

17 March 2017

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The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning

17 March 2017

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Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia

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17 March 2017

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17 March 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Inactivation of Patched1 in the mouse limb has novel inhibitory effects on the chondrogenic program

29 September 2017

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Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels

29 September 2017

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29 September 2017

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Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus

29 September 2017

1 reference

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Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

29 September 2017

1 reference

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Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome

29 September 2017

1 reference

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The Na+/H+ exchanger NHE1 is required for directional migration stimulated via PDGFR-alpha in the primary cilium

29 September 2017

1 reference

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FGF signalling during embryo development regulates cilia length in diverse epithelia

29 September 2017

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An Fgf/Gremlin inhibitory feedback loop triggers termination of limb bud outgrowth

29 September 2017

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Assembly of primary cilia

29 September 2017

1 reference

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WDR19 expression is increased in prostate cancer compared with normal cells, but low-intensity expression in cancers is associated with shorter time to biochemical failures and local recurrence

29 September 2017

1 reference

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

29 September 2017

1 reference

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Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development

29 September 2017

1 reference

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An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse

29 September 2017

1 reference

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Genomic screen for genes involved in mammalian craniofacial development

29 September 2017

1 reference

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Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

29 September 2017

1 reference

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Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis

29 September 2017

1 reference

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Signal relay by BMP antagonism controls the SHH/FGF4 feedback loop in vertebrate limb buds.

29 September 2017

1 reference

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Somite differentiation. Sonic signals somites

29 September 2017

1 reference

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Sonic hedgehog controls epaxial muscle determination through Myf5 activation.

29 September 2017

1 reference

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Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutant.

3 June 2018

1 reference

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Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium

3 June 2018

1 reference

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The limb bud Shh-Fgf feedback loop is terminated by expansion of former ZPA cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR613

A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

21 January 2018

1 reference

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A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR613

Short rib-polydactyly syndrome: a case report.

21 January 2018

1 reference

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Dermomyotomal origin of the ribs as revealed by extirpation and transplantation experiments in chick and quail embryos

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22228095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR613

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22228095%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22228095%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22228095%20AND%20SRC:MED&resulttype=core&format=json