About: http://hub.abes.fr/oup/periodical/hmg/2008/volume_17/issue_24/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/oup/periodical/hmg/2008/volume_17/issue_24/w Goto Sponge NotDistinct Permalink

Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/2008/volume_17
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/2008/volume_17/issue_24/m/print http://hub.abes.fr/oup/periodical/hmg/2008/volume_17/issue_24/m/web
Date Copyrighted	2008
Rights	Published by Oxford University Press 2008 © The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org © 2008 The Author(s)
issue	24
Access Rights	creative-commons
is Is Part Of of	A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome Editorial Board Contents Page Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease Mutations in the calcium-related gene IL1RAPL1 are associated with autism WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH) CHIP deletion reveals functional redundancy of E3 ligases in promoting degradation of both signaling proteins and expanded glutamine proteins Cover Page Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases Association of common variants in the Joubert syndrome gene (AHI1) with autism Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli Subscription Page Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function Mutations in the human SIX3 gene in holoprosencephaly are loss of function Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata