Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence (Q37708366)

22 August 2017

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence (English)

1 reference

22 August 2017

15

Dirk A Kleinjan

1 reference

22 August 2017

4

Philippe Gautier

1 reference

22 August 2017

Felicity Mehendale

9

0 references

David R. FitzPatrick

object named as

David R Fitzpatrick

16

0 references

Pamela Jane Thompson

12

object named as

Pamela J Thompson

1 reference

22 August 2017

Jacqueline K Rainger

1

1 reference

22 August 2017

Shipra Bhatia

2

1 reference

22 August 2017

Hemant Bengani

3

1 reference

22 August 2017

Joe Rainger

5

1 reference

22 August 2017

Matt Pearson

6

1 reference

22 August 2017

Morad Ansari

7

1 reference

22 August 2017

Jayne Crow

8

1 reference

22 August 2017

Bozena Palinkasova

10

1 reference

22 August 2017

Michael J Dixon

11

1 reference

22 August 2017

Mar Matarin

13

1 reference

22 August 2017

Sanjay M Sisodiya

14

1 reference

22 August 2017

20 December 2013

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22 August 2017

Human Molecular Genetics

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22 August 2017

23

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22 August 2017

10

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22 August 2017

2569-2579

1 reference

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Human developmental enhancers conserved between deuterostomes and protostomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

A unique chromatin signature uncovers early developmental enhancers in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Identification of SOX9 interaction sites in the genome of chondrocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Long-range regulation at the SOX9 locus in development and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

ChIP-seq accurately predicts tissue-specific activity of enhancers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Retrospective review of Stickler syndrome patients with cleft palate 1997-2004.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Recruitment to the nuclear periphery can alter expression of genes in human cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Satb2 regulates callosal projection neuron identity in the developing cerebral cortex

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Pyramidal neurons grow up and change their mind

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

High-resolution in situ hybridization to whole-mount zebrafish embryos

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Highly conserved non-coding sequences are associated with vertebrate development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Identification of SATB2 as the cleft palate gene on 2q32-q33.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

A locus for isolated cleft palate, located on human chromosome 2q32

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

A nuclear matrix attachment region upstream of the T cell receptor beta gene enhancer binds Cux/CDP and SATB1 and modulates enhancer-dependent reporter gene expression but not endogenous gene expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Defective proventriculus specifies the ocellar region in the Drosophila head.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Defective proventriculus is required for pattern formation along the proximodistal axis, cell proliferation and formation of veins in the Drosophila wing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Notch signaling relieves the joint-suppressive activity of Defective proventriculus in the Drosophila leg.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Nuclear re-organisation of the Hoxb complex during mouse embryonic development.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

SOX2 anophthalmia syndrome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3990159

Coordination of PIC Assembly and Chromatin Remodeling During Differentiation-Induced Gene Activation

1 September 2018

1 reference

12 December 2020

A genetic follow-up study of 64 patients with the Pierre Robin complex

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

Etiopathogenesis of isolated Robin sequence

1 reference

12 December 2020

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT647

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24363063

1 reference