(Q24633378)

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Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

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Europe PubMed Central

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7 February 2020

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth (English)

1 reference

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7 February 2020

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Philip G. Murray

2

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7 February 2020

Jill E. Urquhart

4

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7 February 2020

Peter E. Clayton

15

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7 February 2020

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7 February 2020

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Dan Hanson

1

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7 February 2020

James O'Sullivan

3

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7 February 2020

Sarah Daly

5

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7 February 2020

Sanjeev S Bhaskar

6

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7 February 2020

Mars Skae

8

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7 February 2020

Claire Smith

9

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7 February 2020

Trevor Cole

10

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7 February 2020

Jeremy Kirk

11

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7 February 2020

Kate Chandler

12

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7 February 2020

Helen Kingston

13

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7 February 2020

Dian Donnai

14

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7 February 2020

Leslie G Biesecker

7

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7 February 2020

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publication date

7 July 2011

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7 February 2020

American Journal of Human Genetics

1 reference

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7 February 2020

89

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7 February 2020

1

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7 February 2020

148-153

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7 February 2020

The CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

7 April 2017

Induction of cullin 7 by DNA damage attenuates p53 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

7 April 2017

The conserved CPH domains of Cul7 and PARC are protein-protein interaction modules that bind the tetramerization domain of p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

7 April 2017

Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

7 April 2017

CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

7 April 2017

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Disease gene characterization through large-scale co-expression analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Celsius: a community resource for Affymetrix microarray data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

3-M syndrome: a report of three Egyptian cases with review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

Identification of mutations in CUL7 in 3-M syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

3-M syndrome: description of six new patients with review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

The 3-M syndrome: a heritable low birthweight dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

27 September 2017

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135816

30 May 2018

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/21737058

12 December 2020

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10.1016/J.AJHG.2011.05.028

2 references

Consolidated OpenCitations Corpus – April 2017

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7 February 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21737058%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21737058%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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