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Jin Sun Choi

Seoul National University · Medicine

About the Lab

Professor Jin Sun Choi's research lab specializes in translational and clinical genetics, with a focus on the molecular mechanisms underlying neurodevelopmental disorders, skeletal dysplasias, and autoimmune diseases. The lab investigates chromosomal abnormalities, such as microduplications and translocations, and their phenotypic consequences, particularly in developmental delay, epilepsy, and overgrowth syndromes. Additionally, the lab explores pharmacogenomics, especially the role of CYP3A polymorphisms in immunosuppressant response among pediatric kidney transplant recipients, aiming to improve personalized treatment strategies. The integration of genomic technologies like CMA and aCGH with clinical phenotyping is central to their work.

genetic diagnosischromosomal abnormalitiespharmacogenomicsautoimmune diseasedevelopmental delay

Research Overview

Papers
30
Total Citations
244
Papers (5y)
17
Primary Field
Medicine

Research Output Trend

Figures are computed from collected data and may differ slightly.

Publications per year (5y)
17total
2022
2023
2024
2025
2026
Citations per year (5y)
38total
20222023202420252026

Selected Papers

15
1
Article|83 citations·2018
N-3 polyunsaturated fatty acids restore Th17 and Treg balance in collagen antibody-induced arthritis
JY Kim, Kyu Lim, Kyung‐Hee Kim, Jinhyun Kim, Jin Sun Choi, Seung Cheol Shim
SJR Q1PLoS ONEOA

N-3 polyunsaturated fatty acids (PUFA) have anti-inflammatory effects and were considered useful for the treatment of rheumatoid arthritis (RA). Recently, several studies suggested that n-3 PUFAs attenuated arthritis in animal model and human, however the mechanism is still unclear. Interleukin 17 (IL-17) is a pro-inflammatory cytokine mainly produced by T helper 17 (Th17) cells which cause tissue inflammation and bone erosion leading to joint destruction. In contrast, regulatory T (Treg) cells

ImmunologyImmunology and Microbiology
2
Article|43 citations·2018
Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
Jin Sook Lee, Hee Hwang, Soo Yeon Kim, Ki Joong Kim, Jin Sun Choi, Mi Jung Woo, Young Min Choi, Jong Kwan Jun, Byung Chan Lim, Jong‐Hee Chae
SJR Q2Annals of Laboratory MedicineOA

This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.

GeneticsBiochemistry, Genetics and Molecular Biology
3
Article|41 citations·2013
A Unique Phenotype of 2q24.3–2q32.1 Duplication
Byung Chan Lim, Byung-Joo Min, Woong‐Yang Park, Sun Kyung Oh, Mi Jung Woo, Jin Sun Choi, Ki Joong Kim, Yong Seung Hwang, Jong‐Hee Chae
SJR Q2Journal of Child Neurology

The voltage-gated sodium channel genes and HOXD genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3-2q32.1 duplication encompassing both the voltage-gated sodium channel and HOXD gene clusters, which were detected by a comparative genomic hybridization array. The associated clinical features were early-infantile-onset epilepsy, h

GeneticsBiochemistry, Genetics and Molecular Biology
4
Article|19 citations·2015
Skeletal overgrowth syndrome caused by overexpression of C‐type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)
Jung Min Ko, Jun‐Seok Bae, Jin Sun Choi, Kohji Miura, Hyeran Lee, Ok‐Hwa Kim, Nayoung KD Kim, Sun Kyung Oh, Keiichi Ozono, Choon‐Ki Lee, In Ho Choi, Woong‐Yang Park
SJR Q2American Journal of Medical Genetics Part A

Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the

Pulmonary and Respiratory MedicineMedicine
5
Article|15 citations·2022
Effects of tacrolimus intrapatient variability and CYP3A5 polymorphism on the outcomes of pediatric kidney transplantation
Jin Sun Choi, Hyunmin Ko, Hyo Kee Kim, Chris Tae Young Chung, Ahram Han, Seung‐Kee Min, Seung‐Kee Min, Jongwon Ha, Hee Gyung Kang, Il Soo Ha, Sangil Min, Sangil Min
SJR Q2Pediatric Transplantation

BACKGROUND: The intrapatient variability (IPV) of tacrolimus (Tac) is associated with the long-term outcome of kidney transplantation. The CYP3A single-nucleotide polymorphism (SNP) may affect the IPV of Tac. We investigated the impact of IPV and genetic polymorphism in pediatric patients who received kidney transplantation. METHODS: A total of 202 pediatric renal transplant recipients from 2000 to 2016 were analyzed retrospectively. The IPV was calculated between 6 and 12 months after surgery.

TransplantationMedicine
6
Article|8 citations·2026
Demographic and Clinicopathologic Factors Associated With Colorectal Adenoma Recurrence
Usman Ayub Awan, Qingyuan Song, Kristen K. Ciombor, A. T. Toriola, Jin Sun Choi, Timothy Su, Xiao-ou Shu, Kamran Idrees, Kay Washington, Wei Zheng, Wanqing Wen, Zhijun Yin
SJR Q1JAMA Network OpenOA

Importance: Current colorectal surveillance guidelines emphasize adenoma characteristics but overlook temporal, racial, and sex-based heterogeneity in recurrence risk, a gap that limits equitable and personalized care. Objective: To evaluate the associations of demographic factors, obesity, and adenoma features with recurrence risk over time in a large longitudinal surveillance cohort. Design, Setting, and Participants: This retrospective cohort study included adults who underwent their first co

OncologyMedicine
7
Article|8 citations·2024
Risk Factor Analysis of Lymph Node Metastasis for Rectal Neuroendocrine Tumors: Who Needs a Radical Resection in Rectal Neuroendocrine Tumors Sized 1–2 cm?
Jin Sun Choi, Min Jung Kim, Rumi Shin, Ji Won Park, Seung Chul Heo, Seung‐Yong Jeong, Kyu Joo Park, Seung‐Bum Ryoo
SJR Q1Annals of Surgical Oncology
EpidemiologyMedicine
8
Article|6 citations·2005
Dynamic model for failures in biological systems
Jin Sun Choi, M. Y. Choi, B.-G. Yoon
SJR Q2Europhysics Letters (EPL)OA

A dynamic model for failures in biological organisms is proposed and studied both analytically and numerically. Each cell in the organism becomes dead under sufficiently strong stress, and is then allowed to be healed with some probability. It is found that unlike the case of no healing, the organism in general does not completely break down even in the presence of noise. Revealed is the characteristic time evolution that the system tends to resist the stress longer than the system without heali

Molecular BiologyBiochemistry, Genetics and Molecular Biology
9
Article|6 citations·2012
A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong‐Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim
Korean Journal of PediatricsOA

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her b

GeneticsBiochemistry, Genetics and Molecular Biology
10
Article|5 citations·2004
Dynamic model of fiber bundles
M. Y. Choi, Jin Sun Choi, B.-G. Yoon
SJR Q2Europhysics Letters (EPL)OA

A realistic continuous-time dynamics for fiber bundles is introduced and studied both analytically and numerically. The equation of motion reproduces known stationary-state results in the deterministic limit while the system under non-vanishing stress always breaks down in the presence of noise. Revealed in particular is the characteristic time evolution that the system tends to resist the stress for considerable time, followed by sudden complete rupture. The critical stress beyond which the com

Statistical and Nonlinear PhysicsPhysics and Astronomy
11
Article|4 citations·2024
Tumor Deposits as an Adverse Prognostic Indicator in Stage III Colon Cancer: A Multicenter Database Study
Jeeyou Kim, Dong Woon Lee, Ji Won Park, Seung‐Bum Ryoo, Heung‐Kwon Oh, Rumi Shin, Jin Sun Choi, Min Jung Kim, Sungchan Park, Duck-Woo Kim, Seung Chul Heo, Sung-Bum Kang
Annals of Surgery OpenOA

Objective: We explored the oncological impact of tumor deposits (TDs) on colon cancer and proposed optimal modifications to the current staging system. Background: In the existing American Joint Committee on Cancer colon cancer staging system, TDs are incorporated into the N category as N1c. When lymph node metastases (LNMs) are present, their number is considered to determine nodal stages, such as N1a/b or N2a/b, regardless of TDs. Methods: 4212 patients with primary colon cancer who underwent

OncologyMedicine
12
Article|3 citations·2020
Renal transplantation in patients with an augmentation cystoplasty
Jin Sun Choi, Hyunmin Ko, Hyo Kee Kim, Chris Tae Young Chung, Ahram Han, Seung‐Kee Min, Jongwon Ha, Sangil Min
Korean Journal of TransplantationOA

Background: The effects of renal transplantation in patients with augmentation cystoplasty are still controversial. We retrospectively analyzed nine patients who underwent renal transplantation after augmentation cystoplasty. Methods: A total of nine patients who underwent augmentation cystoplasty prior to renal transplantation between January 1990 and May 2020 were reviewed. Basic information on augmentation cystoplasty, transplant procedures, and long-term outcomes of renal transplantation wer

SurgeryMedicine
13
Article|1 citations·2025
Ulcerative colitis-associated colorectal neoplasm is increasing as a surgical indication in the biologics era: a retrospective observational study of 20 years of experience in a single tertiary center
Hyo Jun Kim, Seung‐Bum Ryoo, Jin Sun Choi, Han‐Ki Lim, Min Jung Kim, Ji Won Park, Seung‐Yong Jeong, Kyu Joo Park
SJR Q2Annals of Surgical Treatment and ResearchOA

Purpose: We aimed to identify changes in surgical indications in patients with ulcerative colitis (UC) in the biologics era in a single tertiary center.Methods: In this retrospective observational study, 108 patients with UC who underwent abdominal surgery for UC at Seoul National University Hospital from 2000 to 2021 were included.We compared the total number of patients undergoing UC before and after the introduction of biologic therapy.Results: Of the 108 patients with UC (male, 59 and female

GeneticsBiochemistry, Genetics and Molecular Biology
14
Preprint|1 citations·2023
Angiotensin receptor blockers, but not angiotensin-converting enzyme inhibitors, inhibit abnormal bone changes in spondyloarthritis
Jin Sun Choi, Jiyoung Kim, Min-Joo Ahn, Hanbit Jang, Seungtaek Song, Sungsin Jo, Sung Hoon Choi, Ye‐Soo Park, Tae‐Hwan Kim, Seung Cheol Shim
Research SquareOA

Abstract Background Spondyloarthritis (SpA) is a chronic inflammatory disease that results in bone ankylosis. The tissue renin-angiotensin system (RAS), updated with new components, is an emerging phenomenon possibly implicated in SpA-associated bone changes. Therefore, we sought to determine the mechanism underlying this relationship. Methods Sakaguchi (SKG) mice injected with curdlan (SKGc), animal models for SpA, were treated with the RAS modulators, angiotensin II receptor blockers (ARBs) or

RheumatologyMedicine
15
Article|1 citations·2023
A 3 mm Port Reduces Postoperative Pain After Laparoscopic Colon Cancer Surgery: A Case-control Matched Study
Jin Sun Choi, Hyo Jun Kim, Han‐Ki Lim, Min Jung Kim, Rumi Shin, Ji Won Park, Seung‐Bum Ryoo, Kyu Joo Park, Hyeree Park, Aesun Shin, Seung‐Yong Jeong
SJR Q2Surgical Laparoscopy Endoscopy & Percutaneous TechniquesOA

BACKGROUND: Recently, smaller-size trocars and instruments have been developed for laparoscopic colon cancer surgery; however, their effectiveness and safety have not been elucidated. This study aimed to investigate whether 3 mm trocars and instruments have benefits compared with conventional trocars and instruments. PATIENTS AND METHODS: Patients with colon cancer who underwent laparoscopic anterior resection or right hemicolectomy were included. Patients who underwent combined resections of ot

SurgeryMedicine

Research Areas

GeneticsOncologySurgeryRheumatologyEpidemiologyComputational Theory and Mathematics

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