首页/数据集/Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames

Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames

Mendeley Data2026-04-09 收录

基因翻译调控

遗传疾病机制

数据链接：

https://data.mendeley.com/datasets/rztnbvr2ht 数据链接链接失效反馈

官方服务：

资源简介：

Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames

应用场景：

剪接变异预测

遗传疾病机制

Prediction scores of canonical (c.439) and cryptic splice site (c.439-17) by five prediction algorithms due to the variant c.439-17G>A in CDHR1 gene.

NIAID Data Ecosystem80

Additional file 5 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

遗传疾病机制

基因功能分析

Additional file 5: Table S6. The in-frame exon localization and role within the ABCA4 protein.

Figshare2023-08-16 更新60

Haplotypes at LBX1 Have Distinct Inheritance Patterns with Opposite Effects in Adolescent Idiopathic Scoliosis

遗传疾病机制

精准医学风险评估

Adolescent idiopathic scoliosis (AIS) is a clinically significant disorder with high heritability that affects 2–4% of the population. Genome-wide association studies have identified LBX1 as a strong

Figshare2016-01-15 更新20

Figure S5

遗传疾病机制

线粒体病理学

Raw and supporting data for Figure S5 in Genetic model of UBA5 deficiency highlights involvement of both peripheral and central nervous systems and identifies widespread mitochondrial pathology

NIAID Data Ecosystem80

KAT6A mutations in Arboleda-Tham syndrome affect regulation and expression of HOXC genes.. KAT6A mutations in Arboleda-Tham syndrome affect regulation and expression of HOXC genes.

遗传疾病机制

基因表达与调控

This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series

NIAID Data Ecosystem40