Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations (Q24313632)

regulation of cilium assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

28

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Valérie Cormier-Daire

29

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Sophie Saunier

2

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Martine Le Merrer

16

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Sylvie Gerber

8

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Arnold Munnich

26

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Jean-Michel Rozet

30

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Isabelle Perrault

1

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Josseline Kaplan

27

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Christine Bôle-Feysot

21

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Véronique Baudouin

13

Véronique Baudouin

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Patrick Nitschké

22

Patrick Nitschke

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Albane A Bizet

Albane A Bizet

5

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Eduardo Silva

Eduardo Silva

12

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Mustafa A. Salih

Mustafa A M Salih

7

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Sylvain Hanein

3

Sylvain Hanein

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Emilie Filhol

4

Emilie Filhol

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Nathalie Delphin

9

Nathalie Delphin

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Christophe Orssaud

11

Christophe Orssaud

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Machteld M Oud

14

Machteld M Oud

0 references

Olivier Roche

17

Olivier Roche

0 references

Clarisse Baumann

20

Clarisse Baumann

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Heleen ter Meulen

25

Heleen H Arts

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author name string

Felicity Collins

6

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Karine Bigot

10

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Véronique Baudouin

13

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Nora Shannon

15

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Christine Pietrement

18

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Jamal Goumid

19

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Patrick Nitschke

22

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Mohammed Zahrate

23

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Philip Beales

American Journal of Human Genetics

24

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language of work or name

English

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publication date

4 May 2012

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published in

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volume

90

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issue

5

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page(s)

864-70

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cites work

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Direct interactions of intraflagellar transport complex B proteins IFT88, IFT52, and IFT46.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

SnapShot: Intraflagellar transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

27 September 2017

1 reference

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Ciliopathies: an expanding disease spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

An IFT-A protein is required to delimit functionally distinct zones in mechanosensory cilia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Intraflagellar transport and functional analysis of genes required for flagellum formation in trypanosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Intraflagellar transport proteins in ciliogenesis of photoreceptor 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=3376548

IQCB1 mutations in patients with leber congenital amaurosis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376548

10.1016/J.AJHG.2012.03.006

29 November 2018

Identifiers

DOI

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3349176

3349176

1 reference

1 reference

1 reference