(Q34427667)

2 August 2017

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS (English)

1 reference

2 August 2017

1 reference

20

Patrick Nitschké

0 references

Christine Bôle-Feysot

19

Christine Bole-Feysot

0 references

Christelle Arrondel

Christelle Arrondel

7

0 references

Albane A Bizet

Albane A Bizet

2

0 references

Géraldine Mollet

Géraldine Mollet

22

0 references

Olivia Boyer

Olivia Boyer

3

0 references

Olivier Gribouval

Olivier Gribouval

5

0 references

Sophie Saunier

Sophie Saunier

23

0 references

Marie-Claire Gubler

Marie-Claire Gubler

21

0 references

Corinne Antignac

Corinne Antignac

24

0 references

Sophie Thomas

8

Sophie Thomas

1 reference

2 August 2017

6

Emilie Filhol

1 reference

2 August 2017

9

Flora Silbermann

1 reference

2 August 2017

18

Laure-Hélène Noel

1 reference

2 August 2017

Evelyne Huynh Cong

1

1 reference

2 August 2017

Stéphanie Woerner

4

1 reference

2 August 2017

Guillaume Canaud

10

1 reference

2 August 2017

Jamil Hachicha

11

1 reference

2 August 2017

Nasr Ben Dhia

12

1 reference

2 August 2017

Marie-Noëlle Peraldi

13

1 reference

2 August 2017

Kais Harzallah

14

1 reference

2 August 2017

Daouia Iftene

15

1 reference

2 August 2017

Laurent Daniel

16

1 reference

2 August 2017

Marjolaine Willems

17

1 reference

2 August 2017

Patrick Nitschké

20

1 reference

2 August 2017

29 May 2014

1 reference

Journal of the American Society of Nephrology

2 August 2017

1 reference

2 August 2017

25

1 reference

2 August 2017

11

1 reference

2 August 2017

2435-2443

1 reference

describes a project that uses

2 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4214529/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Educational paper: the podocytopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Architecture and function of IFT complex proteins in ciliogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

The podocyte cytoskeleton--key to a functioning glomerulus in health and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Ciliogenesis: building the cell's antenna

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Primary cilia disappear in rat podocytes during glomerular development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Pathologic classification of focal segmental glomerulosclerosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4214529

6 July 2018

Identifiers

DOI

10.1681/ASN.2013101126

1 reference

2 August 2017

1 reference

2 August 2017

1 reference