Treacher Collins syndrome: etiology, pathogenesis and prevention (Q24601177)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

title

Treacher Collins syndrome: etiology, pathogenesis and prevention (English)

1 reference

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19 January 2020

1 reference

Treacher Collins syndrome

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1 reference

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Jill Dixon

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

Michael J Dixon

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

24 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

19 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

volume

17

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

275-283

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

p53, the cellular gatekeeper for growth and division

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Older paternal age and fresh gene mutation: Data on additional disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Living with p53, dying of p53.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Two-dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Protein sequence requirements for function of the human T-cell leukemia virus type 1 Rex nuclear export signal delineated by a novel in vivo randomization-selection assay

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Ultrasound features of normal early pregnancy development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Autosomal recessive inheritance of Nager acrofacial dysostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Teratogens and craniofacial malformations: relationships to cell death

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest 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=2986179

Fetal cleft lip repair in rabbits: postnatal facial growth after repair

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Fetal cleft lip repair in rabbits: histology and role of hyaluronic acid

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

30 May 2018

Tracher Collins syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038/EJHG.2008.221

Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986179

Mandibulofacial dysostosis

28 November 2018

1 reference

12 December 2020

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS

1 reference

12 December 2020

Mandibulo-facial dysostosis. (Treacher-Collins syndrome)

1 reference

12 December 2020

Anatomical abnormalities in mandibulofacial dysostosis

1 reference

12 December 2020

Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies

1 reference

12 December 2020

Management of the fetus with congenital hydronephrosis II: Prognostic criteria and selection for treatment

1 reference

12 December 2020

Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery

1 reference

12 December 2020

The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.221

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 January 2020

1046903831

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19107148 AND SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

19107148

2 references