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Mouse studies show how PGRN and Gba1 mutations interplay affects Gaucher disease severity. Neurodegeneration in diseased mice is characterized by activated microglial phagocytosis of impaired neurons and programmed cell death. Human Molecular Genetics Read more: zpr.io/3uUksUfmdbxe

Interesting new Human Molecular Genetics article: Get access 📷Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model. #myotonicdystrophy tinyurl.com/2munxmpd

Highly homologous miR-135a and miR-135b converting non-small cell lung cancer from suppression to progression via enhancer switching doi.org/10.1093/hmg/dd…

From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA) doi.org/10.1093/hmg/dd…

I'm saddened by the news of the passing of Charis Eng, MD, PhD. She was a brilliant scientist and strong mentor who dedicated her life to scientific research. I'm proud to have completed my thesis research under her tutelage. This is a great loss. Rest in peace, Dr. Eng.

Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases doi.org/10.1093/hmg/dd…

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons doi.org/10.1093/hmg/dd…

NEW ISSUE: 15 Aug 2024: academic.oup.com/hmg/issue/33/16 Cover: Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data doi.org/10.1093/hmg/dd…

Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome doi.org/10.1093/hmg/dd…

A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice doi.org/10.1093/hmg/dd…

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis doi.org/10.1093/hmg/dd…

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data doi.org/10.1093/hmg/dd…

Final call for submissions! Don't miss the chance to have your research featured in the upcoming Human Molecular Genetics special issue on Molecular Mechanisms and Genetics. The deadline for submissions is September 30, 2024. Submit your research: oxford.ly/4fBjNAM

Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium doi.org/10.1093/hmg/dd…

Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218 doi.org/10.1093/hmg/dd…

An endogenous retrovirus regulates tumor-specific expression of the immune transcriptional regulator SP140 doi.org/10.1093/hmg/dd…

NEW ISSUE: 1 Sept 2024: academic.oup.com/hmg/issue/33/17 Cover: PSMC5 insufficiency and P320R mutation impair proteasome function doi.org/10.1093/hmg/dd…

Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease doi.org/10.1093/hmg/dd…

Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension doi.org/10.1093/hmg/dd…

PSMC5 insufficiency and P320R mutation impair proteasome function doi.org/10.1093/hmg/dd…