(Q24625476)

23

0 references

Bruno Dallapiccola

47

0 references

Carrie Sougnez

22

0 references

Michel Vekemans

46

0 references

Sophie Saunier

41

0 references

Enza Maria Valente

1

0 references

Francesco Brancati

6

0 references

Arnold Munnich

40

0 references

Eugen Boltshauser

36

0 references

Clare Victoria Logan

2

0 references

Edgar A. Otto

24

0 references

Kristian Cibulskis

21

0 references

Stacey Gabriel

19

0 references

Carsten Russ

20

0 references

Soumaya Mougou-Zerelli

3

Soumaya Mougou-Zerelli

0 references

Annalisa Mazzotta

Annalisa Mazzotta

13

0 references

Bill H Diplas

Bill H Diplas

26

0 references

Lorena Travaglini

Lorena Travaglini

8

0 references

Mario Mikula

Mario Mikula

28

0 references

Joseph G Gleeson

51

Joseph G Gleeson

0 references

Dorit Lev

31

Dorit Lev

0 references

Charles M Strom

29

Charles M Strom

0 references

Sophie Thomas

45

Sophie Thomas

0 references

Chris F. Inglehearn

42

Chris Inglehearn

0 references

Jennifer L Silhavy

5

Jennifer L Silhavy

0 references

Dominika Swistun

16

Dominika Swistun

0 references

Jerlyn C Tolentino

15

Jerlyn C Tolentino

0 references

Carmelo D Salpietro

17

Carmelo D Salpietro

0 references

Miriam Iannicelli

7

Miriam Iannicelli

0 references

Sveva Romani

9

Sveva Romani

0 references

Barbara Illi

10

Barbara Illi

0 references

Bruria Ben Zeev

30

Bruria Ben-Zeev

0 references

Nadia Elkhartoufi

37

Nadia Elkhartoufi

0 references

Stavit A Shalev

39

Stavit Shalev

0 references

author name string

Jeong Ho Lee

4

0 references

Matthew Adams

11

0 references

Katarzyna Szymanska

12

0 references

Ji Eun Lee

14

0 references

Carmelo Fede

18

0 references

Susanne Held

25

0 references

Erica E Davis

27

0 references

Tally Lerman Sagie

32

0 references

Marina Michelson

33

0 references

Yuval Yaron

34

0 references

Amanda Krause

35

0 references

Joelle Roume

38

0 references

Ali Saad

43

0 references

Adila Alkindy

44

0 references

Colin A Johnson

TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling

49

0 references

language of work or name

English

0 references

publication date

July 2010

0 references

published in

Nature Genetics

0 references

volume

42

0 references

page(s)

619-25

0 references

issue

7

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

The primary cilium as a cellular signaling center: lessons from disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Deacetylase activity associates with topoisomerase II and is necessary for etoposide-induced apoptosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

A gene for Meckel syndrome maps to chromosome 11q13.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Dishevelled controls cell polarity during Xenopus gastrulation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

High-resolution DNA melting analysis: advancements and limitations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Tetraspan proteins: regulators of renal structure and function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Piecing together a ciliome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Elucidation of basal body and centriole functions in Chlamydomonas reinhardtii

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Tetraspan vesicle membrane proteins: synthesis, subcellular localization, and functional properties.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Protein kinase A phosphorylation of RhoA mediates the morphological and functional effects of cyclic AMP in cytotoxic lymphocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Distribution of glutamylated alpha and beta-tubulin in mouse tissues using a specific monoclonal antibody, GT335.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2894012

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

28 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.594

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.594

1 reference

Dimensions Publication ID

1797439

1031002347

0 references

1797439

1 reference

1 reference

1 reference