Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (Q28235961)

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22 January 2020

title

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (English)

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1

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Jeanne Amiel

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David R. FitzPatrick

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Arnold Munnich

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Michel Vekemans

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author name string

Judy A Fantes

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Negar Jamshidi

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Abdelkader Essafi

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Muriel Holder-Espinasse

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Melissa M Lees

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Arnaud Picard

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Paul Thomas

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Nicholas D Hastie

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Peter G Farlie

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language of work or name

English

0 references

publication date

22 February 2009

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22 January 2020

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22 January 2020

volume

41

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22 January 2020

page(s)

359-364

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22 January 2020

issue

3

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

22 January 2020

cites work

1 reference

Highly conserved non-coding sequences are associated with vertebrate development

21 April 2017

1 reference

Sox9 is required for cartilage formation

21 April 2017

1 reference

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 April 2017

1 reference

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

21 April 2017

1 reference

Optical projection tomography as a tool for 3D microscopy and gene expression studies

21 April 2017

1 reference

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

21 April 2017

1 reference

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.

21 January 2018

1 reference

Conserved non-genic sequences - an unexpected feature of mammalian genomes

21 January 2018

1 reference

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

21 January 2018

1 reference

Gene expression in pharyngeal arch 1 during human embryonic development

21 January 2018

1 reference

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

21 January 2018

1 reference

In vitro assays fail to predict in vivo effects of regulatory polymorphisms.

21 January 2018

1 reference

Nuclear reorganisation and chromatin decondensation are conserved, but distinct, mechanisms linked to Hox gene activation.

21 January 2018

1 reference

Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions.

21 January 2018

1 reference

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern.

21 January 2018

1 reference

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

21 January 2018

1 reference

Sox genes regulate type 2 collagen expression in avian neural crest cells.

21 January 2018

1 reference

Interactions between Sox9 and beta-catenin control chondrocyte differentiation

21 January 2018

1 reference

Pierre Robin Sequence: A series of 117 consecutive cases

21 January 2018

1 reference

Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest

21 January 2018

1 reference

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

21 January 2018

1 reference

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

Sox proteins and neural crest development

21 January 2018

1 reference

Importance of SoxE in neural crest development and the evolution of the pharynx

21 January 2018

1 reference

Raising the estimate of functional human sequences

21 January 2018

1 reference

Direct transcriptional regulation of Bim by FoxO3a mediates STI571-induced apoptosis in Bcr-Abl-expressing cells.

21 January 2018

1 reference

Molecular bases of human neurocristopathies.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19234473

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19234473

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A fall of the base of the tongue considered as a new cause of nasopharyngeal respiratory impairment: Pierre Robin sequence, a translation. 1923.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19234473

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.329

2 references

Consolidated OpenCitations Corpus – April 2017

3229501

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22 January 2020

3229501

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3229501

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