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Integrative genomic analysis of RNA-modification-single nucleotide polymorphisms associated with kidney function.
Heliyon
October 2024
Department of Nephropathy, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, 230022, China.
Introduction: Increasing evidence suggests that RNA modification plays a significant role in the kidney and may be an ideal target for the treatment of kidney diseases. However, the specific mechanisms underlying RNA modifications in the pathogenesis of kidney disease remain unclear. Genome-wide association studies (GWAS) have identified numerous genetic loci involved in kidney function and RNA modifications.
View Article and Find Full Text PDFIdentification of potential therapeutic targets for skin cutaneous melanoma on the basic of transcriptomics.
Skin Res Technol
August 2024
Department of Oncology, The Fourth Affiliated Hospital of Soochow University, Suzhou Dushu Lake Hospital, Medical Center of Soochow University, Suzhou, China.
Background: Advanced skin cutaneous melanoma (SKCM) is responsible for the majority of skin cancer-related deaths. Apart from the rare BRAF V600F mutation, which can be targeted with specific drugs, there are currently no other novel effective therapeutic targets.
Methods: We used SMR analysis with cis-expressed quantitative trait locus (cis-eQTL) as the exposure variable and SKCM as the outcome variable to identify potential therapeutic targets for SKCM.
A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10.
QJM
April 2024
Medical Genetic Department, The Affiliated Hospital of Qingdao University, NO.16 Jiang Su Road, Qingdao 266071, China.
MYCN and SNRPD3 cooperate to maintain a balance of alternative splicing events that drives neuroblastoma progression.
Oncogene
January 2024
Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Kensington, NSW, 2052, Australia.
Many of the pro-tumorigenic functions of the oncogene MYCN are attributed to its regulation of global gene expression programs. Alternative splicing is another important regulator of gene expression and has been implicated in neuroblastoma development, however, the molecular mechanisms remain unknown. We found that MYCN up-regulated the expression of the core spliceosomal protein, SNRPD3, in models of neuroblastoma initiation and progression.
View Article and Find Full Text PDFA sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant.
Clin Dysmorphol
January 2023
Division of Clinical Genetics, Department of Pediatrics, Army Hospital Research and Referral, New Delhi, India.
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