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Volume 24, Issue 6, 15 March 2015
Articles
Nuclear TDP-43 causes neuronal toxicity by escaping from the inhibitory regulation by hnRNPs
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1513–1527, https://doi.org/10.1093/hmg/ddu563
Tags:
protein tdp-43, rna, neuron death, dna, dimerization
Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1528–1539, https://doi.org/10.1093/hmg/ddu564
l-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1540–1555, https://doi.org/10.1093/hmg/ddu565
Functional characterization of CYP2D6 enhancer polymorphisms
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1556–1562, https://doi.org/10.1093/hmg/ddu566
Loss of the thyroid hormone-binding protein Crym renders striatal neurons more vulnerable to mutant huntingtin in Huntington's disease
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1563–1573, https://doi.org/10.1093/hmg/ddu571
Tags:
brain, htt gene, huntington's disease, mice, neostriatum
CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1574–1583, https://doi.org/10.1093/hmg/ddu572
Tags:
dna replication, genome, mutagenesis, mice, drosophila
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1584–1601, https://doi.org/10.1093/hmg/ddu573
Tags:
cilia, ciliopathies, genes, mice, photoreceptors
Disruption of the nuclear membrane by perinuclear inclusions of mutant huntingtin causes cell-cycle re-entry and striatal cell death in mouse and cell models of Huntington's disease
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1602–1616, https://doi.org/10.1093/hmg/ddu574
Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1617–1629, https://doi.org/10.1093/hmg/ddu575
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1630–1645, https://doi.org/10.1093/hmg/ddu576
Tags:
arginine, brain, c9orf72 gene, cultured cells, cytoplasm
Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1646–1654, https://doi.org/10.1093/hmg/ddu577
Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1655–1669, https://doi.org/10.1093/hmg/ddu578
Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1670–1681, https://doi.org/10.1093/hmg/ddu579
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1682–1690, https://doi.org/10.1093/hmg/ddu580
Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1691–1703, https://doi.org/10.1093/hmg/ddu582
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1704–1716, https://doi.org/10.1093/hmg/ddu584
(Poly)phenols protect from α-synuclein toxicity by reducing oxidative stress and promoting autophagy
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1717–1732, https://doi.org/10.1093/hmg/ddu585
Tags:
autophagy, oxidative stress, phenols, toxic effect, yeasts
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1733–1740, https://doi.org/10.1093/hmg/ddu586
PPAR gamma activation is neuroprotective in a Drosophila model of ALS based on TDP-43
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1741–1754, https://doi.org/10.1093/hmg/ddu587
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1755–1763, https://doi.org/10.1093/hmg/ddu588
Tags:
genetics, mice, opsin, retinal cone, tissue degeneration
Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1764–1773, https://doi.org/10.1093/hmg/ddu594
ASSOCIATION STUDIES ARTICLES
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1774–1790, https://doi.org/10.1093/hmg/ddu581
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1791–1800, https://doi.org/10.1093/hmg/ddu583
Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Pages 1801–1812, https://doi.org/10.1093/hmg/ddu589
FRONT-MATTER/BACK-MATTER
Cover Page
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Page NP, https://doi.org/10.1093/hmg/ddu666
Contents Page
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Page NP, https://doi.org/10.1093/hmg/ddu640
Editorial Board
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Page NP, https://doi.org/10.1093/hmg/ddu692
Subscription Page
Human Molecular Genetics, Volume 24, Issue 6, 15 March 2015, Page NP, https://doi.org/10.1093/hmg/ddu718
