- Recent progress in using Drosophila as a platform for human genetic disease research
-
Yoon WH
- KMID: 2550313
- J Genet Med.
- 2023 Dec;20(2):39-45.
- doi: 10.5734/JGM.2023.20.2.39
As advanced sequencing technologies continue to uncover an increasing number of variants in genes associated with human genetic diseases, there is a growing demand for systematic approaches to assess the... -
- CITED
-
- Close
- SHARE
-
- Close
- Exome and genome sequencing for diagnosing patients with suspected rare genetic disease
-
Seo GH, Lee H
- KMID: 2550312
- J Genet Med.
- 2023 Dec;20(2):31-38.
- doi: 10.5734/JGM.2023.20.2.31
Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many... -
- CITED
-
- Close
- SHARE
-
- Close
- Exonic copy number variations in rare genetic disorders
-
Kim MJ
- KMID: 2550314
- J Genet Med.
- 2023 Dec;20(2):46-51.
- doi: 10.5734/JGM.2023.20.2.46
Exonic copy number variation (CNV), involving deletions and duplications at the gene’s exon level, presents challenges in detection due to their variable impact on gene function. The study delves into... -
- CITED
-
- Close
- SHARE
-
- Close
- A Korean case of CTCF related neurodevelopmental disorders
-
Kang SR, Seo SH, Kim K, Yang HB, Yang HR, Cho A
- KMID: 2550317
- J Genet Med.
- 2023 Dec;20(2):70-74.
- doi: 10.5734/JGM.2023.20.2.70
CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental... -
- CITED
-
- Close
- SHARE
-
- Close
- Growth hormone treatment for
-
Im M, Kim C, Sung J, Kim I, Hwang JH, Kim MS, Cho SY
- KMID: 2550316
- J Genet Med.
- 2023 Dec;20(2):60-69.
- doi: 10.5734/JGM.2023.20.2.60
Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the... -
- CITED
-
- Close
- SHARE
-
- Close
- Differential microbiota network according to colorectal cancer lymph node metastasis stages
-
Yu Y, Han D, Kim H, Kim YH, Lee D
- KMID: 2550315
- J Genet Med.
- 2023 Dec;20(2):52-59.
- doi: 10.5734/JGM.2023.20.2.52
Purpose: Colorectal cancer (CRC) is a common malignancy worldwide and the second leading cause of cancer-related deaths. In addition, lymph node metastasis in CRC is considered an important prognostic factor... -
- CITED
-
- Close
- SHARE
-
- Close
