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Protective effects of antidepressant citalopram against abnormal APP processing and amyloid beta-induced mitochondrial dynamics, biogenesis, mitophagy and synaptic toxicities in Alzheimer's disease

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (10)

The purpose of this study is to study the neuroprotective role of selective serotonin reuptake inhibitor (SSRI), citalopram, against Alzheimer's disea......

Proteomic analysis of aged and OPTN E50K retina in the development of normal tension glaucoma

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (11)

Progressive degeneration of retinal ganglion cells (RGCs) is a major characteristic of glaucoma, whose underlying mechanisms are still largely unknown......

A cross-tissue transcriptome-wide association study identifies novel susceptibility genes for lung cancer in Chinese populations

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (17)

Although dozens of susceptibility loci have been identified for lung cancer in genome-wide association studies (GWASs), the susceptibility genes and u......

SNP-adjacent super enhancer network mediates enhanced osteogenic differentiation of MSCs in ankylosing spondylitis

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (3-4)

Ankylosing spondylitis (AS) is a rheumatic disease with pathological osteogenesis that causes bony ankylosis and even deformity over time. Mesenchymal......

Single-cell RNA sequencing reveals species-specific time spans of cell cycle transitions in early oogenesis

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (7)

Oogenesis is a highly regulated process and its basic cellular events are evolutionarily conserved. However, the time spans of oogenesis differ substa......

Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (10)

GGGGCC repeats in a non-coding region of the C9orf72 gene have been identified as a major genetic cause of amyotrophic lateral sclerosis (ALS) and fro......

Generation and characterization of a P2rx2 V6OL mouse model for DFNA41

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (11)

P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation w......

Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (5)

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gut. Genetic association studies have identified the highly variable human l......

Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (10)

Transcriptome-wide association study (TWAS) is an important integrative method for identifying genes that are causally associated with phenotypes. A k......

Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (11)

Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it's genetic risk factors and env......

Multi-omics analysis to identify susceptibility genes for colorectal cancer

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (5)

Most genetic variants for colorectal cancer (CRC) identified in genome-wide association studies (GWAS) are located in intergenic regions, implying pat......

Loss of ten-eleven translocation 2 induces cardiac hypertrophy and fibrosis through modulating ERK signaling pathway

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (10)

The ten-eleven translocation (Tet) family of dioxygenases convert 5-methylcytosine to 5-hydroxymethylcytosine (5hmC). Previous studies have shown that......

RNA kinase CLP1/Cbc regulates meiosis initiation in spermatogenesis

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (17)

CLP1, TSEN complex, and VCP are evolutionarily conserved proteins whose mutations are associated with neurodegenerative diseases. In this study, we ha......

Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (14)

Delta R4-R23/Delta CT micro-dystrophin (mu Dys) is a miniaturized version of dystrophin currently evaluated in a Duchenne muscular dystrophy (DMD) gen......

Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy

期刊: HUMAN MOLECULAR GENETICS, 2021; 30 (17)

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease characterized by progressive wasting of skeletal muscles. The neuromuscular jun......

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