(Q34764702)

4 August 2017

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (English)

1 reference

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

4 August 2017

1 reference

corrigendum / erratum

1 reference

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG0511-499B

author

Clare Victoria Logan

10

1 reference

4 August 2017

35

1 reference

4 August 2017

48

1 reference

4 August 2017

41

Tania Attié-Bitach

0 references

Bill H Diplas

Bill H Diplas

4

0 references

Neveen A. Soliman

Neveen A Soliman

28

0 references

Sophie Saunier

Sophie Saunier

36

0 references

Eric A Pierce

Eric A Pierce

47

0 references

Eamonn R Maher

Eamonn R Maher

40

0 references

Peter J Scambler

Peter J Scambler

NISC Comparative Sequencing Program

37

0 references

23

NISC Comparative Sequencing Program

1 reference

4 August 2017

44

Eric D Green

1 reference

4 August 2017

20

James C Mullikin

1 reference

4 August 2017

39

Joseph G Gleeson

1 reference

4 August 2017

30

Kathryn J Swoboda

1 reference

4 August 2017

11

Donna M Muzny

1 reference

4 August 2017

24

Gabor Gyapay

1 reference

4 August 2017

45

Richard A Gibbs

1 reference

4 August 2017

13

David A Wheeler

1 reference

4 August 2017

16

Lora R Lewis

1 reference

4 August 2017

15

Margaret Morgan

1 reference

4 August 2017

42

Hélène Dollfus

1 reference

4 August 2017

25

Susanne Rieger

1 reference

4 August 2017

5

Lisa M Davey

1 reference

4 August 2017

22

Gerard G Bouffard

1 reference

4 August 2017

18

Baishali Maskeri

1 reference

4 August 2017

Erica E Davis

1

1 reference

4 August 2017

Qi Zhang

2

1 reference

4 August 2017

Qin Liu

3

1 reference

4 August 2017

Jane Hartley

6

1 reference

4 August 2017

Corinne Stoetzel

7

1 reference

4 August 2017

Katarzyna Szymanska

8

1 reference

4 August 2017

Gokul Ramaswami

9

1 reference

4 August 2017

Alice C Young

12

1 reference

4 August 2017

Pedro Cruz

14

1 reference

4 August 2017

Praveen Cherukuri

17

1 reference

4 August 2017

Nancy F Hansen

19

1 reference

4 August 2017

Robert W Blakesley

21

1 reference

4 August 2017

Burkhard Tönshoff

26

1 reference

4 August 2017

Ilse Kern

27

1 reference

4 August 2017

Thomas J Neuhaus

29

1 reference

4 August 2017

Hulya Kayserili

31

1 reference

4 August 2017

Tomas E Gallagher

32

1 reference

4 August 2017

Richard A Lewis

33

1 reference

4 August 2017

Carsten Bergmann

34

1 reference

4 August 2017

Philip L Beales

38

1 reference

4 August 2017

Colin A Johnson

43

1 reference

4 August 2017

Friedhelm Hildebrandt

46

1 reference

4 August 2017

language of work or name

English

0 references

publication date

23 January 2011

1 reference

4 August 2017

1 reference

4 August 2017

43

1 reference

4 August 2017

189-196

1 reference

4 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.756

4 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Functional modules, mutational load and human genetic disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

The proteome of the mouse photoreceptor sensory cilium complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Controlled expression of transgenes introduced by in vivo electroporation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

The Ciliopathies: An Emerging Class of Human Genetic Disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Electroporation and RNA interference in the rodent retina in vivo and in vitro

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Evidence of Oligogenic Inheritance in Nephronophthisis

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.756

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071301

Familial progressive tubulo-interstitial nephropathy and cholestatic liver disease -- a newly recognized entity?

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.756

1 reference

4 August 2017

1 reference

4 August 2017

1 reference