최진선 교수
Jin Sun Choi
서울대학교 · 의학
연구실 소개
최진선 교수의 연구실은 주로 유전적 질환과 면역반응의 분자 기전을 규명하는 데 초점을 맞추고 있습니다. 특히, 류마티스 관절염과 같은 자가면역질환에서 오메가-3 오메가-3 지방산의 면역조절 작용, 그리고 발달지연이나 지적장애 환자에서의 염색체 미세변동과 관련된 진단적 접근을 연구하고 있습니다. 또한, 심장·골격계 이상을 동반한 과성장 증후군 등 희귀유전질환의 유전자 기반 기전 규명에도 기여하고 있습니다. 최근에는 대장암 환자의 영상학적 예후 평가 및 신장이식 환자의 약물대사 반응에 따른 임상적 결과 예측 모델 개발에도 관심을 기울이고 있습니다.
연구 현황
연구 성과 추이
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
주요 논문
15N-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
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.
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
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
3D volumetric parameters generated using an automatic segmentation program showed higher correlations with the short- and long-term outcomes of patients with CRC than conventional 2D parameters.
The IPV of Tac had a significant impact on dnDSA development, occurrence of acute TCMR, and graft failure in pediatric patients who received renal transplantation. CYP3A5 expressors with high IPV of Tac showed worse outcomes, while the CYP3A5 polymorphism had no impact on IPV of Tac.
This study aimed to assess the likely association of gut microbiome with low anterior resection syndrome (LARS) symptoms. Postoperative stool samples from patients with minor or major LARS after sphincter-preserving surgery (SPS) for rectal cancer were collected and analyzed using 16S ribosomal RNA sequencing method. The symptom patterns of LARS were classified into two groups (PC1LARS, PC2LARS) using principal component analysis. The dichotomized sum of questionnaire items (sub1LARS, sub2LARS)
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
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
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
Both histopathologic features and demographic factors demonstrated distinct time-dependent patterns in adenoma recurrence, underscoring the need for surveillance strategies that account for temporal variation and population-specific risk profiles.
TDs were associated with poor prognostic factors and had a significant impact on survival outcomes. The incorporation of tumor deposits into nodal classifications beyond the current N1c criteria may improve the staging system and more accurately reflect the recurrence and survival rates among patients with colon cancer. TD-positive in N1a or N1b could be categorized as N2.
Renal transplantation after bladder augmentation surgery is a major operation requiring a high level of surgical skill. Based on our long-term experiences, we recommend diligent postoperative monitoring for urinary tract infections, optimal catheter use, and use of appropriate antibiotic prophylaxis to avoid severe complications.
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
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