Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
about
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegansHuman homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeCore histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRADirect selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like geneThe HIR corepressor complex binds to nucleosomes generating a distinct protein/DNA complex resistant to remodeling by SWI/SNF.A complex composed of tup1 and ssn6 represses transcription in vitro.Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethalityCharacterization of the past and current duplication activities in the human 22q11.2 regionA deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewModeling stochastic gene expression: implications for haploinsufficiency.Features of DiGeorge syndrome and CHARGE association in five patients.Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene.Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome.Transcription factor EKLF (KLF1) recruitment of the histone chaperone HIRA is essential for β-globin gene expression.Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.The KRAB zinc finger gene ZNF74 encodes an RNA-binding protein tightly associated with the nuclear matrix.Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Separation-of-function mutation in HPC2, a member of the HIR complex in S. cerevisiae, results in derepression of the histone genes but does not confer cryptic TATA phenotypes.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Molecular definition of the 22q11 deletions in velo-cardio-facial syndromeDeletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis.HIRA deficiency in muscle fibers causes hypertrophy and susceptibility to oxidative stress.Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)The genetic basis of paediatric heart disease.The Schizosaccharomyces pombe HIRA-like protein Hip1 is required for the periodic expression of histone genes and contributes to the function of complex centromeresNeurocristopathy: its growth and development in 20 years.A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.How many breaks do we need to CATCH on 22q11?Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.HIRA is essential for the development of gibel carp.Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome.
P2860
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P2860
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Isolation of a putative transc ...... lial congenital heart disease.
@ast
Isolation of a putative transc ...... lial congenital heart disease.
@en
Isolation of a putative transc ...... lial congenital heart disease.
@nl
type
label
Isolation of a putative transc ...... lial congenital heart disease.
@ast
Isolation of a putative transc ...... lial congenital heart disease.
@en
Isolation of a putative transc ...... lial congenital heart disease.
@nl
prefLabel
Isolation of a putative transc ...... lial congenital heart disease.
@ast
Isolation of a putative transc ...... lial congenital heart disease.
@en
Isolation of a putative transc ...... lial congenital heart disease.
@nl
P2093
P356
P1476
Isolation of a putative transc ...... lial congenital heart disease.
@en
P2093
H O'Donnell
J A Whiting
P304
P356
10.1093/HMG/2.12.2099
P50
P577
1993-12-01T00:00:00Z