التفاصيل البيبلوغرافية
| العنوان: |
DataSheet1_Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease.DOCX |
| المؤلفون: |
Xiaojing Gu (811335), Yanbing Hou (1691005), Yongping Chen (42308), Ruwei Ou (2950635), Bei Cao (141848), Qianqian Wei (160576), Lingyu Zhang (2180486), Wei Song (30780), Bi Zhao (775292), Ying Wu (19057), Huifang Shang (480160) |
| سنة النشر: |
2021 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, LIN28A, early onset Parkinson’s disease, rare variant, screening, burden analysis |
| الوصف: |
A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes could be rescued after correction of the variant. The aim of the study was to screen the variants of LIN28A in Chinese patients with EOPD. A total of 682 EOPD patients were sequenced with whole exome sequencing and the coding and flanking region of LIN28A were analyzed. We identified a rare coding variant, p. P182L, of LIN28A in a Chinese patient with EOPD. Moreover, we also found a 3′-UTR polymorphism (rs4659441) to be associated with an increased risk for PD. However, our rare variant burden analysis did not support a role for LIN28A as a major causal gene for PD. |
| نوع الوثيقة: |
dataset |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/dataset/DataSheet1_Comprehensive_Analysis_of_LIN28A_in_Chinese_Patients_With_Early_Onset_Parkinson_s_Disease_DOCX/16824373 |
| DOI: |
10.3389/fgene.2021.740096.s001 |
| الاتاحة: |
https://doi.org/10.3389/fgene.2021.740096.s001 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.23F8802 |
| قاعدة البيانات: |
BASE |