(Q37298127)

English

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

scientific article published on 31 October 2013

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

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

1 reference

Europe PubMed Central

19 August 2017

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short rib – polydactyly syndrome

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asphyxiating thoracic dysplasia

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Valérie Cormier-Daire

13

object named as

Valérie Cormier-Daire

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object named as

Céline Huber

1

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Kim-Hanh Le Quan Sang

object named as

Kim-Hanh Le Quan Sang

8

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object named as

Valérie Serre

6

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11

object named as

Arnold Munnich

1 reference

Europe PubMed Central

19 August 2017

9

object named as

David L Rimoin

1 reference

Europe PubMed Central

19 August 2017

author name string

Sulin Wu

2

1 reference

Europe PubMed Central

19 August 2017

Ashley S Kim

3

1 reference

Europe PubMed Central

19 August 2017

Sabine Sigaudy

4

1 reference

Europe PubMed Central

19 August 2017

Anna Sarukhanov

5

1 reference

Europe PubMed Central

19 August 2017

Genevieve Baujat

7

1 reference

Europe PubMed Central

19 August 2017

Daniel H Cohn

10

1 reference

Europe PubMed Central

19 August 2017

Deborah Krakow

12

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Europe PubMed Central

19 August 2017

language of work or name

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publication date

31 October 2013

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Europe PubMed Central

19 August 2017

American Journal of Human Genetics

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Europe PubMed Central

19 August 2017

93

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Europe PubMed Central

19 August 2017

926-931

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Europe PubMed Central

19 August 2017

5

1 reference

Europe PubMed Central

19 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

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=3824112

6 September 2017

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

Structure of Coatomer Cage Proteins and the Relationship among COPI, COPII, and Clathrin Vesicle Coats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

The intraflagellar transport machinery of Chlamydomonas reinhardtii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

New syndrome of skeletal, dental and hair anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

6 September 2017

WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

14 September 2017

Primary cilia elongation in response to interleukin-1 mediates the inflammatory response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

26 June 2018

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

26 June 2018

A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

26 June 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824112

2 September 2018

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/24183449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.10.007

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

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