Rare Disease Research Center (희귀난치질환연구센터)287

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  • 희귀난치성 신경계질환의 고품질 임상시료 임상정보 유전체정보 확보
  • 희귀난치성 신경계질환의 한국인 유전체표준변이지도 작성 및 고급 통합 DB 구축
  • 희귀난치성 신경계질환 정밀 진단 원천기술 개발
  • 희귀난치성 신경계질환 정밀 맞춤 치료용 타겟 발굴 및 기능/기전 규명
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Showing results 1 to 20 of 235

No. Year Title Type
1 2021

2021Article

Characteristics of genetic variations associated with Lennox-Gastaut syndrome in Korean familiesFrontiers in Genetics, vol. 11, pp. 590924-590924Jin Ok Yang; Min Hyuk Choi; Ji Yong YoonJeong Ju Lee; S O Nam; Soo Young Jun; H H Kwon; Sohyun Yun; Su Jin Jeon; I Byeon, et al.
Article
2 2021

2021Article

Targeting therapy-resistant lung cancer stem cells via disruption of the AKT/TSPYL5/PTEN positive-feedback loopCommunications Biology, vol. 4, pp. 778-778I G Kim; J H Lee; S Y Kim; Chang-Kyu Heo; R K Kim; Eun Wie Cho
Article
3 2021

2021Article

Reduction of squalene epoxidase by cholesterol accumulation accelerates colorectal cancer progression and metastasisGastroenterology, vol. 160, pp. 1194-1207Soo Young Jun; A J Brown; N K Chua; Ji Yong YoonJeong Ju LeeJin Ok YangIn Su Jang; Su Jin Jeon; T I Choi; C H Kim, et al.
Article
4 2021

2021Article

The human TOR signaling regulator is the key indicator of liver cancer patients' overall survival: TIPRL/LC3/CD133/CD44 as potential biomarkers for early liver cancersCancers, vol. 13, no. 12, pp. 2925-2925Soo Young Jun; Hyang Ran YoonJi Yong Yoon; Su Jin Jeon; Jeong Ju Lee; D Halder; J M Kim; Nam-Soon Kim
Article
5 2021

2021Article

Systematic target screening revealed that Tif302 could be an off-target of the antifungal terbinafine in fission yeastBiomolecules & Therapeutics, vol. 29, no. 2, pp. 234-247S Lee; M Nam; A R Lee; J Lee; J Woo; N S Kang; A Balupuri; M Lee; Seon-Young Kim; H Ro, et al.
Article
6 2020

2020Article

A novel X-linked variant of IQSEC2 is associated with Lennox-gastaut syndrome and mild intellectual disability in three generations of a korean familyGenetic Testing and Molecular Biomarkers, vol. 24, no. 1, pp. 54-58Min Hyuk Choi; Jin Ok Yang; Ju-Sik Min; Jeong Ju Lee; Soo Young Jun; Yong Jae LeeJi Yong Yoon; Su Jin Jeon; Iksu Byeon; J W Kang, et al.
Article
7 2020

2020Article

Cyclic peptide mimotopes for the detection of serum anti-ATIC autoantibody biomarker in hepato-cellular carcinomaInternational Journal of Molecular Sciences, vol. 21, no. 24, pp. 9718-9718Chang Kyu Heo; Hai Min Hwang; Won-Hee Lim; H J Lee; J S Yoo; K J Lim; Eun Wie Cho
Article
8 2020

2020Article

Co-treatment of birinapant with TRAIL synergistically induces apoptosis by downregulating cFLIP(L) in MDA-MB-453 cell linesBiochemical and Biophysical Research Communications, vol. 533, pp. 289-295Eun Jung Park; H D Kim; Eun Kyoung Choi; K L Hoe; Dong Uk Kim
Article
9 2020

2020Article

Econazole induces p53-dependent apoptosis and decreases metastasis ability in gastric cancer cellsBiomolecules & Therapeutics, vol. 28, no. 4, pp. 370-379Eun Kyoung Choi; Eun Jung Park; T T Phan; Hae Dong Kim; K L Hoe; Dong Uk Kim
Article
10 2020

2020Article

Depression-like behaviors induced by defective PTPRT activity through dysregulated synaptic functions and neurogenesisJournal of Cell Science, vol. 133, pp. jcs243972-jcs243972So-Hee Lim; S Shin; M H Kim; E C Kim; Da Yong LeeJeonghee Moon; Hey-Yeon Park; Young-Kyoung Ryu; Young Mi Kang; Y J Kang, et al.
Article
11 2020

2020Article

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestationClinical Neurology and Neurosurgery, vol. 199, pp. 106267-106267M Kim; A R Kim; J Park; J S Kim; J H Ahn; W Y Park; N K D Kim; C Lee; Nam-Soon Kim; J W Cho, et al.
Article
12 2020

2020Article

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implicationsParkinsonism & Related Disorders, vol. 80, pp. 58-64M Kim; A R Kim; J S Kim; J Park; J Youn; J H Ahn; J K Mun; C Lee; Nam-Soon Kim; N K D Kim, et al.
Article
13 2020

2020Article

Coiled-coil domain containing 50-V2 protein positively regulates neurite outgrowthScientific Reports, vol. 10, pp. 21295-21295Jusik Min; D Halder; Ji Yong Yoon; Su Jin Jeon; Soo Young Jun; Jae-Ran LeeJeong Ju Lee; Min Hyuk Choi; Cho-Rok JungDa Yong Lee, et al.
Article
14 2020

2020Article

HSPA1L enhances cancer stem cell-like properties by activating IGF1Rβ and regulating β-catenin transcriptionInternational Journal of Molecular Sciences, vol. 21, no. 18, pp. 6957-6957S I Choi; J H Lee; R K Kim; U Jung; Y J Kahm; Eun Wie Cho; I G Kim
Article
15 2019

2019Article

Type 1 sialidosis patient with a novel deletion mutation in the NEU1 gene: case report and literature reviewCerebellum, vol. 18, no. 3, pp. 659-664J H Ahn; A R Kim; C Lee; N K D Kim; Nam-Soon Kim; W Y Park; M Kim; J Youn; J W Cho; J S Kim
Article
16 2019

2019Article

Identifying SYNE1 ataxia and extending the mutational spectrum in KoreaParkinsonism & Related Disorders, vol. 58, pp. 74-78J S Kim; A R Kim; J Youn; C Lee; Nam-Soon Kim; W Y Park; J K Park; N K D Kim; J W Cho
Article
17 2019

2019Article

Spastin contributes to neural development through the regulation of microtubule dynamics in the primary cilia of neural stem cellsNeuroscience, vol. 411, pp. 76-85Bohyeon Jeong; Tae Hwan Kim; Dae Soo Kim; W H Shin; Jae-Ran LeeNam-Soon KimDa Yong Lee
Article
18 2019

2019Article

Serum anti-EIF3A autoantibody as a potential diagnostic marker for hepatocellular carcinomaScientific Reports, vol. 9, pp. 11059-11059Chang Kyu Heo; Hai Min Hwang; H J Lee; Sang-Seob Kwak; J S Yoo; Dae Yeul Yu; K J Lim; S Lee; Eun Wie Cho
Article
19 2019

2019Article

Optimization of a microarray for fission yeastGenomics & Informatics, vol. 17, no. 3, pp. e28-e28Dong Uk Kim; M Lee; S Han; M Nam; S Lee; J Lee; J Woo; D Kim; K L Hoe
Article
20 2019

2019Article

The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancerScientific Reports, vol. 9, pp. 16802-16802Soo Young Jun; Su Jin Jeon; Ji Yong YoonJeong Ju LeeHyang Ran Yoon; Min Hyeok Choi; D Halder; K Lee; Nam-Soon Kim
Article
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