KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (Q34183496)

31 July 2017

title

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (English)

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35

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22

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Stanislas Lyonnet

31

Stanislas Lyonnet

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Raoul Hennekam

24

Raoul Hennekam

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Valérie Cormier-Daire

23

Valérie Cormier-Daire

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Christine Bôle-Feysot

27

Christine Bole-Feysot

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Patrick Nitschké

19

Patrick Nitschke

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Férechté Encha-Razavi

32

Férechté Encha-Razavi

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Tania Attié-Bitach

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Nicolas Cagnard

Nicolas Cagnard

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Sophie Thomas

2

Sophie Thomas

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37

Michel Vekemans

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Solenn Pruvost

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1

Audrey Putoux

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5

Yasemin Alanay

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Sophie Patrier

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Nadia Elkhartoufi

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Christel Thauvin-Robinet

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Christel Thauvin-Robinet

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33

Jean-Pierre Siffroi

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Karlien L M Coene

3

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Erica E Davis

4

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Gönül Ogur

6

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Elif Uz

7

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Daniela Buzas

8

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Céline Gomes

9

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Christopher L Bennett

11

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Marie-Hélène Saint Frison

13

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Luc Rigonnot

14

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Nicole Joyé

15

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Gulen Eda Utine

17

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Koray Boduroglu

18

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31 July 2017

Patrick Nitschke

19

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Laura Fertitta

20

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Estelle Colin

25

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Nurten Ayse Akarsu

26

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Alain Schmitt

29

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Nicolas Goudin

30

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Mark Winey

34

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Marie Gonzales

36

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Philip L Beales

38

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31 July 2017

language of work or name

English

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publication date

8 May 2011

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31 July 2017

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31 July 2017

volume

43

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issue

6

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31 July 2017

page(s)

601-606

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia 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=3674836

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl 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=3674836

The primary cilium: a signalling centre during vertebrate development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Functional genomic screen for modulators of ciliogenesis and cilium length

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Making sense of cilia in disease: the human ciliopathies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog 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=3674836

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia 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=3674836

The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog 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=3674836

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile 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=3674836

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl 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=3674836

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel 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=3674836

Gas1 extends the range of Hedgehog action by facilitating its 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=3674836

Dissection of epistasis in oligogenic Bardet-Biedl 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=3674836

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Hedgehog signaling: Costal-2 bridges the transduction gap.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Hedgehog signal transduction proteins: contacts of the Fused kinase and Ci transcription factor with the kinesin-related protein Costal2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Effective targeted gene 'knockdown' in zebrafish

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Hedgehog elicits signal transduction by means of a large complex containing the kinesin-related protein costal2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.826

A homologue of the Drosophila kinesin-like protein Costal2 regulates Hedgehog signal transduction in the vertebrate embryo

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.826

Multiple muscle cell identities induced by distinct levels and timing of hedgehog activity in the zebrafish embryo

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.826

The acrocallosal syndrome in sisters.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674836

28 October 2018

Identifiers

DOI

10.1038/NG.826

1 reference

31 July 2017

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31 July 2017

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