Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis (Q37246302)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963285%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis (English)

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10 March 2020

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10 March 2020

Christian Gilissen

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10 March 2020

Jasmien Roosenboom

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10 March 2020

Joep de Ligt

31

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10 March 2020

Hans van Bokhoven

38

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Carine E Carels

42

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10 March 2020

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James R Lupski

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10 March 2020

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Han G Brunner

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10 March 2020

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Rolph Pfundt

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10 March 2020

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Tjitske Kleefstra

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10 March 2020

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Lisenka E L M Vissers

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Alexander Hoischen

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10 March 2020

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Ellen van Beusekom

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10 March 2020

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Marloes Steehouwer

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10 March 2020

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Maartje van de Vorst

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10 March 2020

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Koen Devriendt

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10 March 2020

author name string

Kriti D Khandelwal

2

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Karoline Dreesen

3

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Kerstin U Ludwig

4

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10 March 2020

Robert Sullivan

5

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10 March 2020

Iris A L M van Rooij

6

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10 March 2020

Michelle Thonissen

7

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Steven Swinnen

8

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Milien Phan

9

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10 March 2020

Federica Conte

10

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10 March 2020

Nina Ishorst

11

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10 March 2020

Laury RoaFuentes

13

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Arjen Henkes

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Marjon Bloemen

18

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Bruno Vankeirsbilck

19

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Stefaan Bergé

20

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10 March 2020

Greet Hens

21

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10 March 2020

Joseph Schoenaers

22

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10 March 2020

Vincent Vander Poorten

23

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10 March 2020

An Verdonck

25

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10 March 2020

Nel Roeleveldt

27

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10 March 2020

Shalini N Jhangiani

28

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10 March 2020

Johannes W Von den Hoff

32

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10 March 2020

Huiqing Zhou

35

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10 March 2020

Jill Dixon

36

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10 March 2020

Elisabeth Mangold

37

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10 March 2020

Michael J Dixon

39

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10 March 2020

language of work or name

English

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publication date

10 March 2016

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10 March 2020

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10 March 2020

volume

18

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10 March 2020

page(s)

1158-1162

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10 March 2020

issue

11

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https://scigraph.springernature.com/pub.10.1038/gim.2016.10

10 March 2020

exact match

0 references

cites work

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1 reference

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Rare LRP6 variants identified in spina bifida patients

6 September 2017

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

6 September 2017

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Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

6 September 2017

1 reference

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Mutations in WNT10A are present in more than half of isolated hypodontia cases.

6 September 2017

1 reference

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Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

6 September 2017

1 reference

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Where Wnts went: the exploding field of Lrp5 and Lrp6 signaling in bone

6 September 2017

1 reference

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Parathyroid hormone signaling through low-density lipoprotein-related protein 6

6 September 2017

1 reference

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Tooth agenesis: from molecular genetics to molecular dentistry.

6 September 2017

1 reference

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Wnt signal amplification via activity, cooperativity, and regulation of multiple intracellular PPPSP motifs in the Wnt co-receptor LRP6.

6 September 2017

1 reference

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Wnt induces LRP6 signalosomes and promotes dishevelled-dependent LRP6 phosphorylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5018235

LRP6 mutation in a family with early coronary disease and metabolic risk factors

6 September 2017

1 reference

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

6 September 2017

1 reference

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The many faces and factors of orofacial clefts

6 September 2017

1 reference

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Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees

6 September 2017

1 reference

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Diagnostic exome sequencing in persons with severe intellectual disability

3 September 2018

1 reference

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Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family.

3 September 2018

1 reference

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

3 September 2018

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Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.10

A meta-analysis of the prevalence of dental agenesis of permanent teeth

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26963285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963285%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963285%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference