DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling (Q24311957)

regulation of Wnt signaling pathway

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Friedhelm Hildebrandt

29

0 references

Juha Kere

28

0 references

Sophie Saunier

20

0 references

Klaus Zerres

21

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Andrea Bieder

Andrea Bieder

7

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Daniela A Braun

Daniela A Braun

2

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Edgar A. Otto

Edgar A Otto

13

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Tomáš Honzík

Tomas Honzik

16

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Neil J. Sebire

Neil J Sebire

15

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Heon Yung Gee

Heon Yung Gee

4

0 references

Rachel H Giles

Rachel H Giles

27

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Jan Halbritter

6

Jan Halbritter

0 references

Rannar Airik

9

Rannar Airik

0 references

Markus Schueler

1

Markus Schueler

0 references

Jonathan D Porath

8

Jonathan D Porath

0 references

Detlef Bockenhauer

14

Detlef Böckenhauer

0 references

Richard P. Lifton

26

Richard P Lifton

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author name string

Gayathri Chandrasekar

3

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Timothy D Klasson

5

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Weibin Zhou

10

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Joseph J LoTurco

11

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Alicia Che

12

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Peter C Harris

17

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Sarah J Koon

18

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Meral Gunay-Aygun

19

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Nadina Ortiz Bruechle

22

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Joost P H Drenth

23

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Laurence Pelletier

24

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Isabel Tapia-Páez

American Journal of Human Genetics

25

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language of work or name

English

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publication date

8 January 2015

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published in

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volume

96

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issue

1

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page(s)

81-92

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cites work

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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

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NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

19 March 2017

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

19 March 2017

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

19 March 2017

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

19 March 2017

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

19 March 2017

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

19 March 2017

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A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

19 March 2017

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

19 March 2017

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

19 March 2017

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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

19 March 2017

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Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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fork head domain genes in zebrafish

27 September 2017

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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

27 September 2017

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Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish

29 November 2018

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Common and divergent roles for members of the mouse DCX superfamily

29 November 2018

1 reference

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Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening.

29 November 2018

1 reference

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The Wnt/beta-catenin pathway regulates cardiac valve formation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289677

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289677

10.1016/J.AJHG.2014.12.002

29 November 2018

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

25557784

1 reference