Skip to main content

Jinse Jeong

Yonsei University · 生化学・遺伝学・分子生物学

研究室紹介

Professor Jinse Jeong's research lab specializes in clinical and molecular genetics, with a focus on rare genetic disorders, hereditary hearing loss, and pediatric genetic syndromes. The lab investigates the genetic basis of conditions such as non-syndromic hearing loss, primary ciliary dyskinesia (PCD), and Prader-Willi syndrome using advanced genomic techniques like whole-exome sequencing and FISH. The team integrates clinical genetics with functional assays to understand disease mechanisms and improve diagnostic accuracy. Their work also includes surgical management of rare head and neck tumors, such as jugular foramen paragangliomas and sinonasal lymphomas, emphasizing multidisciplinary approaches in diagnosis and treatment.

genetic hearing losswhole-exome sequencingPrader-Willi syndromeprimary ciliary dyskinesiahead and neck tumors

Research Overview

Papers
18
Total Citations
23
Papers (5y)
8
Primary Field
生化学・遺伝学・分子生物学

Research Output Trend

Figures are computed from collected data and may differ slightly.

Publications per year (5y)
8total
2021
2022
2023
2024
2025
Citations per year (5y)
4total
20212022202320242025

Selected Papers

15
1
Article|7 citations·2009
Clinical Presentation and Management of Jugular Foramen Paraganglioma
정사명, 이호기, 이원상, 김현수, 정진세

Objectives. Jugular foramen paraganglioma is a locally invasive, benign tumor, which grow slowly and causes various symptoms such as pulsatile tinnitus and low cranial nerve palsy. Complete surgical resection is regarded as the ideal management of these tumors. The goal of this study is to identify the clinical characteristics and most effective surgical approach for jugular foramen paraganglioma. Methods. Retrospective analysis of 9 jugular foramen paraganglioma patients who underwent surgical

2
Article|6 citations·2015
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
김주원, 최재영, 이민구, 이경아, 정진세

GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student’s t-tests or analysis of variance followed by Tukey’s multiple comparison test was use

3
Article|2 citations·2024
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
김경원, 오지영, 이진성, 박무석, 강영애, 조형주, 김송이, 정진세, 윤선옥
https://www.eymj.org/DOIx.php?id=10.3349/ymj.2023.0238

Purpose: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteris tics of primary ciliary dyskinesia (PCD) in the Korean population. Materials and Methods: Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM). Results: Overall, PCD was diagnosed in 10 (21.3%) patients:

4
Article|2 citations·2022
Clinical Experience of Using Active Transcutaneous Bone Conduction Implants (Bonebridge) in Children Under 5 Years Old
배승훈, 정영락, 정진세, 최재영
https://doi.org/10.21053/ceo.2021.02208

.

5
Article|2 citations·2009
비·부비동에 발생한 미만성 거대 B세포 림프종 2예
장성윤, 강주완, 정진세, 윤주헌

Nasal lymphoma is an uncommon neoplasm in the sinonasal tract. The NK/T-cell type of lymphoma is more commonly found in Asian populations. However, B-cell lymphoma is more common in the western countries whereas it is rare in Asia. Recently, we experienced two cases of sinonasal B-cell lymphoma, which are rare cases in Korea, one in an advanced stage and one in an early stage. Both patients had no specific nasal symptoms or systemic B symptoms (fever, night sweat, weight loss). As our cases demo

6
Article|2 citations·2000
The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
Young Ho Yang, Duk Hee Kim, Chung Chung, Yong Seok Sohn, Mee Sun Kim
Korean Journal of PediatricsOA

Purpose : To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. Methods : Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was us

GeneticsBiochemistry, Genetics and Molecular Biology
7
Article|1 citations·2019
Feasibility of Revision Cochlear Implant Surgery for Better Speech Comprehension
황규린, 이재용, 오현석, 이병돈, 정진세, 최재영

Background and Objectives: The purpose of this study was to evaluate the efficacy of revision cochlear implant (CI) surgery for better speech comprehension targeting patients with low satisfaction after first CI surgery. Subjects and Methods: Eight patients who could not upgrade speech processors because of an too early CI model and who wanted to change the whole system were included. After revision CI surgery, we compared speech comprehension before and after revision CI surgery. Categoies of A

8
Article|1 citations·2019
Long-Term Changes in Video Head Impulse and Caloric Tests in Patients with Unilateral Vestibular Neuritis
이현진, 김성헌, 정진세
https://doi.org/10.3342/kjorl-hns.2017.01081

Background and Objectives Video head impulse tests (vHITs) and caloric tests are widelyused to assess the loss of vestibular function in acute vestibular neuritis. Although previousstudies have reported on the results of each test, longitudinal comparison of these tests is rare. In the present study, vHITs and caloric tests were performed in patients with unilateral vestibularneuritis during the acute phase and after a long follow-up period (>6 months). The goal ofthis study was to evaluate the

9
Article|0 citations·2021
Relationship between Hearing Loss and Dementia Differs According to the Underlying Mechanism
정진세, 배성훈, 한지혁, 곽상현, 남기성, 이필휴, 손영호, 윤미진, 예병석
https://doi.org/10.3988/jcn.2021.17.2.290

Background and Purpose The associations between hearing loss (HL) and the mechanisms underlying cognitive impairment (CI) remain unclear. We evaluated the effects of clinical factors, vascular magnetic resonance imaging (MRI) markers, and CI mechanisms on HL. Methods In total, 112 patients with CI (59% demented) and subjective HL prospectively underwent MRI, amyloid positron-emission tomography (PET), hearing evaluations, and neuropsychological tests including a language comprehension test. Pati

10
Article|0 citations·2020
Audiological and Vestibular Functions in Patients With Lateral Semicircular Canal Dysplasia and Aplasia
곽상현, 김민기, 김성헌, 정진세
https://doi.org/10.21053/ceo.2019.01053

Objectives. The aim of the present study was to evaluate audiologic and vestibular functions in patients with lateral semicircular canal (LSCC) dysplasia/aplasia. Methods. We conducted a retrospective study of a patients with LSCC dysplasia and aplasia at tertiary referral center. The subjects included 15 patients with LSCC dysplasia or aplasia, with or without combined inner ear anomalies. Medical history, temporal bone computed tomography scans, pure-tone audiograms, and vestibular function te

11
Article|0 citations·2000
Changes in Fat Tissue and Growth Hormone Receptor mRNA after Growth Hormone Therapy
Hye Jung Shin, Duk Hee Kim, Chung Chung, Kyung-Yoon Kam
Journal of the Korean Pediatric Society

Purpose : Growth hormone(GH) is a powerful inhibitor of lipoprotein lipase and is known to decrease fat cell mass. The lipolytic effect has more pronounced influence on visceral fat than subcutaneous fat. The effects of GH therapy on GH receptor in fat tissue are not clear. We in- vestigated the changes in fat tissue and GH receptor mRNA in adipose tissue with GH therapy. Methods : Eight children with growth hormone deficiency(GHD) and 9 children with Prader-Willi syndrome(PWS) were studied. The

Endocrinology, Diabetes and MetabolismMedicine
12
Article|0 citations·2020
The Era of Precision Medicine: Reshaping Usher Syndrome
정진세
https://doi.org/10.21053/ceo.2019.02117
13
Article|0 citations·2009
중이내에 발병한 반전성 유두종 1예
정진세, 김영훈, 정명현

Inverted papilloma (Schneiderian-type papilloma) involving the middle ear is extremely rare. Most of cases originate from the mucosa of the lateral nasal wall, extending into the paranasal sinuses and orbits. Inverted papilloma involving the middle ear has a high recurrence rate and a possibility of malignant change. We experienced a case of inverted papilloma of the middle ear secondary to congenital cholesteatoma surgery. A nine-year old male who was diagnosed with congenital cholesteatoma was

14
Article|0 citations·2023
치과의사를 위한 노이즈 필터링 이어플러그의 청력 보호 효과에 관한 연구
조다영, 김익환, 이태양, 신승호, 정진세, 박원서, 송제선

이 연구는 소음이 유발되는 진료 시 노이즈 필터링 기능이 있는 이어플러그를 착용하고업무를 시행하여 노이즈 필터링 이어플러그가 치과의사의 청력에 미칠 수 있는 영향에 대해 조사하였다. 연구 대상자의 청력을 평가하기 위해 순음 청력 검사와 변조이음향방사 검사를 첫 내원 시와 1년 후 측정하였다. 연구 결과, 이어플러그를 착용하지 않은 군에 비해이어플러그를 착용한 군의 순음 청력 역치 평균값이 유의미하게 감소하여 청력이 호전되는 모습을 보였다. 그러나 변조이음향검사의 신호대잡음비는 유의미한 차이를 보이지 않았다. 이러한 결과는 노이즈 필터링 이어플러그가 청력 손실을 예방하는 데 일부 효과적일수 있다는 것을 보여준다. 그러나 1년간의 관찰 기간은 청력 변화를 충분히 확인하기에 어려울 수 있으므로, 추적 기간을 늘린 후속 연구가 필요할 것으로 보인다.

15
Article|0 citations·2025
COVID-19 감염 이후 발생한 양측 심도 감각신경성 난청 환자에서 시행한 양측 인공와우 수술 증례
남윤빈, 정진세
https://doi.org/10.3342/kjorl-hns.2024.00500

Bilateral sudden sensorineural hearing loss following COVID-19 infection has rarely been re- ported. We encountered a 34-year-old patient with bilateral profound sensorineural loss after COVID-19 infection. After disappointing therapeutic result of high dose steroid therapy and intratympanic steroid injection, the patient experienced satisfactory auditory rehabilitation with bilateral cochlear implantation.

Research Areas

GeneticsEndocrinology, Diabetes and Metabolism

Jinse Jeongの研究をNubintでさらに深く

この研究室の論文をアプリで開き、AIと共に読み、要約し、引用しましょう。