Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome (Q28209453)

Trends in Molecular Medicine

Europe PubMed Central

title

Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome (English)

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main subject

22q11 deletion syndrome

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Hiroyuki Yamagishi

1

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Deepak Srivastava

series ordinal

2

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language of work or name

English

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publication date

September 2003

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published in

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volume

9

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issue

9

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page(s)

383-9

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cites work

Congenital heart defects and 22q11 deletions: which genes count?

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The 22q11.2 deletion syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Chromosomal microdeletions: dissecting del22q11 syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Patterning the pharyngeal arches

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Neural crest and cardiovascular patterning.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The cellular and molecular origins of beak morphology

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

FGF-8 in the ventral pharynx alters development of myocardial calcium transients after neural crest ablation

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The Role of Neural Crest during Cardiac Development in a Mouse Model of DiGeorge Syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The outflow tract of the heart is recruited from a novel heart-forming field

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Life, death and Sonic hedgehog

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Sonic hedgehogParticipates in Craniofacial Morphogenesis and Is Down-regulated by Teratogenic Doses of Retinoic Acid

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Five years on the wings of fork head

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

HNF-3 beta is essential for node and notochord formation in mouse development

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

sonic hedgehog and vascular endothelial growth factor act upstream of the Notch pathway during arterial endothelial differentiation

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

The gene encoding proline dehydrogenase modulates sensorimotor gating in mice

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.

1 reference

https://api.crossref.org/works/10.1016/S1471-4914(03)00141-2

7 January 2021

10.1016/S1471-4914(03)00141-2

Identifiers

DOI

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Fatcat

https://api.fatcat.wiki/v0/release/55g33d7dafgg3cfm5rshqpki7m

30 July 2022

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Fatcat ID

release_55g33d7dafgg3cfm5rshqpki7m

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Fatcat

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OpenCitations bibliographic resource ID

1343075

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1343075

PubMed publication ID

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https://api.fatcat.wiki/v0/release/55g33d7dafgg3cfm5rshqpki7m

30 July 2022