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Volume 22, Issue 1, 1 January 2013
Articles
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 1–17, https://doi.org/10.1093/hmg/dds371
A fully humanized transgenic mouse model of Huntington disease
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 18–34, https://doi.org/10.1093/hmg/dds397
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 35–50, https://doi.org/10.1093/hmg/dds398
Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 51–60, https://doi.org/10.1093/hmg/dds399
NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 61–73, https://doi.org/10.1093/hmg/dds401
Control of epigenetic states by WT1 via regulation of de novo DNA methyltransferase 3A
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 74–83, https://doi.org/10.1093/hmg/dds403
Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas and triggers Rac1-mediated tumour cell invasiveness
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 84–95, https://doi.org/10.1093/hmg/dds405
Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 96–109, https://doi.org/10.1093/hmg/dds406
l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 110–123, https://doi.org/10.1093/hmg/dds407
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 124–139, https://doi.org/10.1093/hmg/dds409
Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 140–152, https://doi.org/10.1093/hmg/dds414
Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 153–167, https://doi.org/10.1093/hmg/dds415
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 168–183, https://doi.org/10.1093/hmg/dds421
ASSOCIATION STUDIES ARTICLES
Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Pages 184–201, https://doi.org/10.1093/hmg/dds396
FRONT-MATTER/BACK-MATTER
Cover Page
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Page NP, https://doi.org/10.1093/hmg/dds537
Contents Page
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Page NP, https://doi.org/10.1093/hmg/dds536
Editorial Board
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Page NP, https://doi.org/10.1093/hmg/dds538
Subscription Page
Hum Mol Genet, Volume 22, Issue 1, 1 January 2013, Page NP, https://doi.org/10.1093/hmg/dds539
