(Q28512086)

25 January 2017

title

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development (English)

1 reference

Special AT-rich sequence binding protein 2

25 January 2017

0 references

1 reference

GOA release 2020-03-11

Paul Sharpe

6

0 references

Isabelle Miletich

object named as

Isabelle Miletich

5

1 reference

ORCID Public Data File 2021

author name string

Olga Britanova

1

1 reference

25 January 2017

Michael J. Depew

2

1 reference

25 January 2017

Manuela Schwark

3

1 reference

25 January 2017

Bethan L. Thomas

4

1 reference

25 January 2017

Victor Tarabykin

7

1 reference

25 January 2017

language of work or name

English

0 references

publication date

1 October 2006

1 reference

American Journal of Human Genetics

25 January 2017

published in

1 reference

25 January 2017

volume

79

1 reference

25 January 2017

issue

4

1 reference

25 January 2017

page(s)

668–678

1 reference

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

25 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

The genetic basis of the Pierre Robin Sequence

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Role of TBX1 in human del22q11.2 syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Specification of jaw subdivisions by Dlx genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

21st century neontology and the comparative development of the vertebrate skull

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Craniofacial anomalies: from development to molecular pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Orofacial clefting: recent insights into a complex trait

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

The cutting-edge of mammalian development; how the embryo makes teeth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Cleft palate: players, pathways, and pursuits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Cranial neural crest and the building of the vertebrate head

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

A chromosomal deletion map of human malformations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592575

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

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/16960803

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/508214

1 reference

1 reference

1 reference

1 reference