The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
about
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disabilityMental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolismCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsA non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.Genomic features defining exonic variants that modulate splicing.A compendium of human mitochondrial gene expression machinery with links to disease.Copy number variation in human health, disease, and evolution.The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoterInvestigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism.New perspectives for the elucidation of genetic disordersSubmicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGenome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder.Pathogenic role of mitochondrial [correction of mitochondral] amyloid-beta peptide.A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionComplex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.Pure interstitial dup(6)(q22.31q22.31) - a case report.The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.Ocular manifestations in the X-linked intellectual disability syndromes.Inborn errors of ketone body utilization.The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
P2860
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P2860
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
The reduced expression of the ...... hetosis, and abnormal behavior
@ast
The reduced expression of the ...... hetosis, and abnormal behavior
@en
The reduced expression of the ...... hetosis, and abnormal behavior
@nl
type
label
The reduced expression of the ...... hetosis, and abnormal behavior
@ast
The reduced expression of the ...... hetosis, and abnormal behavior
@en
The reduced expression of the ...... hetosis, and abnormal behavior
@nl
prefLabel
The reduced expression of the ...... hetosis, and abnormal behavior
@ast
The reduced expression of the ...... hetosis, and abnormal behavior
@en
The reduced expression of the ...... hetosis, and abnormal behavior
@nl
P2093
P2860
P356
P1476
The reduced expression of the ...... hetosis, and abnormal behavior
@en
P2093
Birgitta Winnepenninckx
Charles E Schwartz
Claus Lenski
Edwin Reyniers
Heide Hellebrand
Juliane Ramser
R Frank Kooy
Ronald J A Wanders
Stefanie Engert
P2860
P356
10.1086/511527
P407
P577
2007-02-01T00:00:00Z