(Q40746137)

23 September 2017

0 references

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

1 reference

short rib – polydactyly syndrome

23 September 2017

0 references

1 reference

25

1 reference

23 September 2017

Valérie Cormier-Daire

28

Valérie Cormier-Daire

0 references

Patrick Nitschké

20

Patrick Nitschké

1 reference

Françoise Clerget-Darpoux

23 September 2017

29

Tania Attié-Bitach

0 references

23

Françoise Clerget-Darpoux

0 references

Celine Huber

Céline Huber

3

0 references

Sophie Saunier

Sophie Saunier

27

0 references

Arnold Munnich

24

Arnold Munnich

1 reference

23 September 2017

30

Sophie Thomas

1 reference

23 September 2017

26

Michel Vekemans

1 reference

23 September 2017

6

Marine Legendre

1 reference

23 September 2017

10

Bettina Bessières

1 reference

23 September 2017

22

Nadia Elkhartoufi

1 reference

23 September 2017

Ferechté Encha-Ravazi

8

Ferechté Encha-Ravazi

1 reference

23 September 2017

5

Amale Ichkou

1 reference

23 September 2017

1

Caroline Alby

1 reference

23 September 2017

Christine Bôle-Feysot

19

Christine Bole

1 reference

23 September 2017

21

Mathilde Nizon

1 reference

23 September 2017

Kevin Piquand

2

1 reference

23 September 2017

André Megarbané

4

1 reference

23 September 2017

Fanny Pelluard

7

1 reference

23 September 2017

Georges Abi-Tayeh

9

1 reference

23 September 2017

Salima El Chehadeh-Djebbar

11

1 reference

23 September 2017

Nicole Laurent

12

1 reference

23 September 2017

Laurence Faivre

13

1 reference

23 September 2017

László Sztriha

14

1 reference

23 September 2017

Melinda Zombor

15

1 reference

23 September 2017

Hajnalka Szabó

16

1 reference

23 September 2017

Marion Failler

17

1 reference

23 September 2017

Meriem Garfa-Traore

18

1 reference

23 September 2017

language of work or name

English

0 references

publication date

9 July 2015

1 reference

American Journal of Human Genetics

23 September 2017

1 reference

23 September 2017

97

1 reference

23 September 2017

2

1 reference

23 September 2017

311-318

1 reference

Clinical genetics and pathobiology of ciliary chondrodysplasias.

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

CP110 and its network of partners coordinately regulate cilia assembly

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Centriole distal appendages promote membrane docking, leading to cilia initiation

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

TCTN3 mutations cause Mohr-Majewski syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Ciliary disorder of the skeleton

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Generation of mice with functional inactivation of talpid3, a gene first identified in chicken

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573270

10.1016/J.AJHG.2015.06.003

19 August 2018

Identifiers

DOI

1 reference

23 September 2017

1 reference

23 September 2017

PubMed publication ID

26166481

1 reference