DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis (Q28117486)

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

sclerosing cholangitis

1 reference

17

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Sophie Saunier

22

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Christine Bôle-Feysot

Sophie Collardeau-Frachon

13

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6

Sophie Collardeau-Frachon

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Patrick Nitschké

14

Patrick Nitschke

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Charline Henry

Charline Henry

8

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Cécile Jeanpierre

Cécile Jeanpierre

7

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Laurence Heidet

Laurence Heidet

18

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Catherine Guettier

16

Catherine Guettier

1 reference

4 January 2017

20

Emmanuel Jacquemin

1 reference

4 January 2017

2

Albane A. Bizet

1 reference

4 January 2017

5

Emilie Filhol

1 reference

4 January 2017

1

Muriel Girard

1 reference

4 January 2017

11

Louise Galmiche

1 reference

4 January 2017

Alain Lachaux

3

1 reference

4 January 2017

Emmanuel Gonzales

4

1 reference

4 January 2017

Sophie Collardeau-Frachon

6

1 reference

4 January 2017

Monique Fabre

9

1 reference

4 January 2017

Loic Viremouneix

10

1 reference

4 January 2017

Dominique Debray

12

1 reference

4 January 2017

Patrick Nitschke

14

1 reference

4 January 2017

Danièle Pariente

15

1 reference

4 January 2017

Aurelia Bertholet

19

1 reference

4 January 2017

Alexandra Henrion-Caude

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

21

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4 January 2017

1 October 2016

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4 January 2017

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4 January 2017

37

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4 January 2017

1025–1029

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4 January 2017

10

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4 January 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Common and divergent roles for members of the mouse DCX superfamily.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Sclerosing cholangitis in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Claudin-1 is a p63 target gene with a crucial role in epithelial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Polymorphism of DCDC2 Reveals Differences in Cortical Morphology of Healthy Individuals-A Preliminary Voxel Based Morphometry Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

DCDC2 is associated with reading disability and modulates neuronal development in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Genetic, environmental, and epigenetic factors involved in CAKUT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Doublecortin mutations cluster in evolutionarily conserved functional domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23031