专题:Genetic Syndromes and Imprinting

This cluster of papers explores the phenomenon of genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. It covers topics such as parental influence on gene expression, epigenetic regulation through DNA methylation, and the role of imprinted genes in syndromes like Prader-Willi and Angelman. Additionally, it delves into the mechanisms of imprint control regions and the involvement of non-coding RNA in regulating imprinted gene networks.
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The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

article Full Text OpenAlex 1633 FWCI298.6606

A computational solution for bolstering reliability of epigenetic clocks: implications for clinical trials and longitudinal tracking

article Full Text OpenAlex 455 FWCI40.3752

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

article Full Text OpenAlex 278 FWCI24.3119

Overview of the 2022 WHO Classification of Parathyroid Tumors

review Full Text OpenAlex 241 FWCI32.2718

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

article Full Text OpenAlex 232 FWCI74.9275

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

article Full Text OpenAlex 205 FWCI18.4944

Pathobiology of the Klotho Antiaging Protein and Therapeutic Considerations

review Full Text OpenAlex 192 FWCI26.3682

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

article Full Text OpenAlex 182 FWCI26.6052

DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits

article Full Text OpenAlex 175 FWCI14.5003

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period

article Full Text OpenAlex 167 FWCI28.6127