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.
最新文献
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

preprint Full Text OpenAlex

Glucose uptake in trophoblasts of GDM mice is regulated by the AMPK-CLUT3 signaling pathway

article Full Text OpenAlex

The Molecular Mechanisms Underlying the Systemic Effects Mediated by Parathormone in the Context of Chronic Kidney Disease

review Full Text OpenAlex

Identifying associations between genetic conditions in offspring and pregnancy health complications

article Full Text OpenAlex

Causal Relationships between Homocysteine and the Polycystic Ovary Syndrome: A Mendelian Randomization Analysis

article Full Text OpenAlex

Interplay of RUNX2 and KLF4 in initial commitment of odontoblast differentiation

article Full Text OpenAlex

Reprogramming of Energy Metabolism in Human <em>PKD1</em> Polycystic Kidney Disease: A Systems Biology Analysis

preprint Full Text OpenAlex

Parathyroidectomy for solitary parathyroid adenoma via trans‐areola single site endoscopic approach: Results of a case‐match study

article Full Text OpenAlex

Juxtaglomerular apparatus-mediated homeostatic mechanisms: therapeutic implication for chronic kidney disease

article Full Text OpenAlex

#395 Gut dysbiosis in ADPKD patients: a controlled pilot study

article Full Text OpenAlex

近5年高被引文献
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

article Full Text OpenAlex 1484 FWCI393.47326627

Large-scale integration of the plasma proteome with genetics and disease

article Full Text OpenAlex 1363 FWCI164.56951589

A generalized linear mixed model association tool for biobank-scale data

article Full Text OpenAlex 664 FWCI100.35183221

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

article Full Text OpenAlex 407 FWCI55.01191362

Live Birth with or without Preimplantation Genetic Testing for Aneuploidy

article Full Text OpenAlex 279 FWCI159.31439001

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

article Full Text OpenAlex 266 FWCI19.40895302

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

article Full Text OpenAlex 249 FWCI33.35174181

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

article Full Text OpenAlex 233 FWCI130.21587129

Overview of the 2022 WHO Classification of Parathyroid Tumors

review Full Text OpenAlex 216 FWCI45.31152723

DNA methylation and regulation of gene expression: Guardian of our health

review Full Text OpenAlex 210 FWCI15.50765593