相关数据集
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity [GenomeWideSNP_6]
Purpose: Obesity is known to be a multifactorial condition that is highly heritable. There have been ~60 susceptibility loci identified, but they only account for a fraction of cases.. As copy number
NIAID Data Ecosystem70
Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 1mGy/day gamma-rays for 400 days (Primary screening for 1mGyA familly).. Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 1mGy/day gamma-rays for 400 days (Primary screening for 1mGyA familly).
Transgenerational effects of continuous low dose-rate (LDR) gamma-ray irradiation have not been well studied. Recent advances in DNA technology enabled us to examine a whole genome at molecular level.
NIAID Data Ecosystem50
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase is associated with Charcot-Marie-Tooth neuropathy
Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neuropathy. The aminoacyl-tRNA synthetases constitute the largest protein family implicated in CMT. Aminoacyl-tRNA synthetases are pr
干细胞与再生医学数据中心2022-02-20 更新40
Table_2_Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.xlsx
PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectr
frontiersin.figshare.com2023-06-08 更新60
Data_Sheet_1_Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage.docx
Xeroderma Pigmentosum C (XPC) is a multi-functional protein that is involved not only in the repair of bulky lesions, post-irradiation, via nucleotide excision repair (NER) per se but also in oxidativ
frontiersin.figshare.com2023-06-01 更新50
