Mutations of CEP83 cause infantile nephronophthisis and intellectual disability (Q34000871)

30 July 2017

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability (English)

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disability affecting intellectual abilities

30 July 2017

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intellectual disability

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based on heuristic

inferred from title

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21

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30 July 2017

Olivier Alibeu

12

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Daniela A Braun

Daniela A Braun

9

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Marie-Claire Gubler

Marie-Claire Gubler

20

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Alexandre Benmerah

Alexandre Benmerah

24

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Sophie Saunier

Sophie Saunier

26

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Corinne Antignac

Corinne Antignac

22

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Heon Yung Gee

Heon Yung Gee

2

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Jan Halbritter

5

Jan Halbritter

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30 July 2017

10

Markus Schueler

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30 July 2017

8

Jonathan D Porath

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30 July 2017

3

Pauline Krug

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30 July 2017

7

Emilie Filhol

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30 July 2017

Marion Failler

1

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30 July 2017

Kwangsic Joo

4

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30 July 2017

Lilya Belkacem

6

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30 July 2017

Amandine Frigo

11

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30 July 2017

Cécile Masson

13

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30 July 2017

Karine Brochard

14

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Bruno Hurault de Ligny

15

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30 July 2017

Robert Novo

16

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Christine Pietrement

17

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30 July 2017

Hulya Kayserili

18

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Rémi Salomon

19

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30 July 2017

Joon Kim

23

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Friedhelm Hildebrandt

25

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30 July 2017

language of work or name

English

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publication date

29 May 2014

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American Journal of Human Genetics

30 July 2017

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30 July 2017

94

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30 July 2017

905-914

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30 July 2017

6

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Getting to the heart of intraflagellar transport using Trypanosoma and Chlamydomonas models: the strength is in their differences

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Primary ciliogenesis requires the distal appendage component Cep123.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

CCDC41 is required for ciliary vesicle docking to the mother centriole

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Centriole distal appendages promote membrane docking, leading to cilia initiation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

TCTN3 mutations cause Mohr-Majewski syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Current insights into renal ciliopathies: what can genetics teach us?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

The centrosome in cells and organisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Three-dimensional resolution doubling in wide-field fluorescence microscopy by structured illumination.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Cep164, a novel centriole appendage protein required for primary cilium formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Overview of structure and function of mammalian cilia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Outer dense fiber 2 is a widespread centrosome scaffold component preferentially associated with mother centrioles: its identification from isolated centrosomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4121475

10.1016/J.AJHG.2014.05.002

29 October 2018

Identifiers

DOI

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30 July 2017

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30 July 2017

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