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
Pathways to enhancing prenatal diagnosis of skeletal dysplasias

article Full Text OpenAlex

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

article Full Text OpenAlex

The not so benign maternal parathyroid adenoma: Siblings with hypocalcemic seizures

article Full Text OpenAlex

Clinical Improvements With Setmelanotide in a 2-Year-Old Patient With Hyperphagia and Obesity due to Leptin Receptor Deficiency: A Case Report

article Full Text OpenAlex

Recommendation of: Limited directional selection but coevolutionary signals among imprinted genes in A. lyrata. Round#4

article Full Text OpenAlex

Can “deleterious genes variants” be beneficial? Antagonistic pleiotropy on the example of the ApoE gene

article Full Text OpenAlex

Growth Hormone‐Induced Stridor in a Patient With Prader–Willi Syndrome

article Full Text OpenAlex

H19 and IGF2 imprinting from embryogenesis to oncogenesis

article Full Text OpenAlex

Factors influencing inconclusive sex chromosomal aneuploidies results on non-invasive prenatal testing

article Full Text OpenAlex

Epigenetic and polygenic contributions to body mass index: a validation study of predictive models

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 1687 FWCI298.3213

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

article Full Text OpenAlex 475 FWCI40.3871

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

article Full Text OpenAlex 291 FWCI24.2633

Overview of the 2022 WHO Classification of Parathyroid Tumors

review Full Text OpenAlex 254 FWCI31.1503

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

article Full Text OpenAlex 244 FWCI73.2288

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

article Full Text OpenAlex 209 FWCI18.544

Pathobiology of the Klotho Antiaging Protein and Therapeutic Considerations

review Full Text OpenAlex 196 FWCI25.4738

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

article Full Text OpenAlex 181 FWCI14.495

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 175 FWCI28.7112

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

article Full Text OpenAlex 170 FWCI15.9472