Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
about
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutationHand1 phosphoregulation within the distal arch neural crest is essential for craniofacial morphogenesis.A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaCre recombinase-regulated Endothelin1 transgenic mouse lines: novel tools for analysis of embryonic and adult disorders.Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectDominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease.MicroRNA Profiling during Craniofacial Development: Potential Roles for Mir23b and Mir133b.Developmental mechanisms of the tympanic membrane in mammals and non-mammalian amniotes.Systems biology of facial development: contributions of ectoderm and mesenchyme.Nkx2.5 regulates endothelin converting enzyme-1 during pharyngeal arch patterning.Negative regulation of endothelin signaling by SIX1 is required for proper maxillary development.Differing contributions of the first and second pharyngeal arches to tympanic membrane formation in the mouse and chick.The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
P2860
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P2860
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
description
2013 nî lūn-bûn
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2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Understanding the basis of aur ...... and zebrafish genetic studies.
@ast
Understanding the basis of aur ...... and zebrafish genetic studies.
@en
type
label
Understanding the basis of aur ...... and zebrafish genetic studies.
@ast
Understanding the basis of aur ...... and zebrafish genetic studies.
@en
prefLabel
Understanding the basis of aur ...... and zebrafish genetic studies.
@ast
Understanding the basis of aur ...... and zebrafish genetic studies.
@en
P2860
P50
P356
P1476
Understanding the basis of aur ...... and zebrafish genetic studies.
@en
P2093
Andre L P Tavares
David E Clouthier
P2860
P304
P356
10.1002/AJMG.C.31376
P577
2013-10-04T00:00:00Z