In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
about
ProRepeat: an integrated repository for studying amino acid tandem repeats in proteinsA murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formationTranscription factor Zic2 inhibits Wnt/β-catenin protein signalingFunctional analysis of mutations in TGIF associated with holoprosencephaly.ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXThe Zic2 gene directs the formation and function of node cilia to control cardiac situsDissecting the role of low-complexity regions in the evolution of vertebrate proteinsThe ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis.The molecular genetics of holoprosencephaly.Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes.Natural selection drives the accumulation of amino acid tandem repeats in human proteins.An analysis of single amino acid repeats as use case for application specific background modelsMutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes.Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription FactorsGain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohortThe full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.Pathogenesis of holoprosencephalyUnderstanding and identifying amino acid repeats.Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis.ZIC2 is Essential for Maintenance of Latency and is a Target of an Immediate-Early Protein during KSHV Lytic Reactivation.Interactions between homopolymeric amino acids (HPAAs).Single amino acid repeats in signal peptides.Beneficial effect of supplemental lipoic acid on diabetes-induced pregnancy loss in the mouse.Expanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor.Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.
P2860
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P2860
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
In vitro analysis of partial l ...... A binding and transactivation.
@ast
In vitro analysis of partial l ...... A binding and transactivation.
@en
In vitro analysis of partial l ...... A binding and transactivation.
@nl
type
label
In vitro analysis of partial l ...... A binding and transactivation.
@ast
In vitro analysis of partial l ...... A binding and transactivation.
@en
In vitro analysis of partial l ...... A binding and transactivation.
@nl
prefLabel
In vitro analysis of partial l ...... A binding and transactivation.
@ast
In vitro analysis of partial l ...... A binding and transactivation.
@en
In vitro analysis of partial l ...... A binding and transactivation.
@nl
P2093
P356
P1476
In vitro analysis of partial l ...... A binding and transactivation.
@en
P2093
Lucia Brown
Melinda Paraso
Ruth Arkell
Stephen Brown
P304
P356
10.1093/HMG/DDI037
P577
2004-12-08T00:00:00Z