Browse "Graduate School of Medical Science & Engineering(의과학대학원)" by Subject MUTATIONS
Showing results 1 to 39 of 39
| A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling Ding, H; Wu, XL; Bostrom, H; Kim, Injune; Wong, N; Tsoi, B; O'Rourke, M; et al, NATURE GENETICS, v.36, no.10, pp.1111 - 1116, 2004-10 |
| A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing Ju, Young Seok; Lee, Won Chul; Shin, Jong Yeon; Lee, Seung Bok; Bleazard, Thomas; Won, Jae Kyung; Kim, Young Tae; et al, GENOME RESEARCH, v.22, no.3, pp.436 - 445, 2012-03 |
| Aberrant L1 Cell Adhesion Molecule Affects Tumor Behavior and Chemosensitivity in Anaplastic Thyroid Carcinoma Kim, Koon Soon; Min, Jeong-Ki; Liang, Zhe Long; Lee, Kyungmin; Lee, Jung Uee; Bae, Kwang-Hee; Lee, Min Hee; et al, CLINICAL CANCER RESEARCH, v.18, no.11, pp.3071 - 3078, 2012-06 |
| Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea Cho, Sun; Park, Seongyeol; Lee, Jeong Seok; Ju, Young Seok; Choi, Yun Jung; Lee, Soyoung, JOURNAL OF RHEUMATIC DISEASES, v.29, no.4, pp.254 - 260, 2022-10 |
| Alterations in the Rho pathway contribute to Epstein-Barr virus-induced lymphomagenesis in immunosuppressed environments Cho, Sung-Yup; Sung, Chang Ohk; Chae, Jeesoo; Lee, Jieun; Na, Deukchae; Kang, Wonyoung; Kang, Jinjoo; et al, BLOOD, v.131, no.17, pp.1931 - 1941, 2018-04 |
| Analysis of polymorphism of the GLUT2 promoter in NIDDM patients and its functional consequence to the promoter activity Cha, JY; Kim, HS; Kim, Hail; Im, SS; Kim, SY; Kim, JW; Yeh, BI; et al, ANNALS OF CLINICAL AND LABORATORY SCIENCE, v.32, no.2, pp.114 - 122, 2002-02 |
| Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants Kwon, Seong Gyu; Bae, Geon Hue; Choi, June Hyug; Mali, Nanda Maya; Jun, Mee Sook; Kim, Dong Sun; Han, Man-Hoon; et al, TISSUE ENGINEERING AND REGENERATIVE MEDICINE, v.19, no.4, pp.809 - 821, 2022-08 |
| Bone morphogenetic protein-9 inhibits lymphatic vessel formation via activin receptor-like kinase 1 during development and cancer progression Yoshimatsu, Yasuhiro; Lee, Yulia G.; Akatsu, Yuichi; Taguchi, Luna; Suzuki, Hiroshi I.; Cunha, Sara I.; Maruyama, Kazuichi; et al, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.110, no.47, pp.18940 - 18945, 2013-11 |
| Cbl-independent degradation of Met: ways to avoid agonism of bivalent Met-targeting antibody Lee, Ji Min; Kim, B.; Lee, S. B.; Jeong, Y.; Oh, Y. M.; Song, Y-J; Jung, S.; et al, ONCOGENE, v.33, no.1, pp.34 - 43, 2014-01 |
| CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium Kim, Joon; Krishnaswami SR (Krishnaswami,; Gleeson JG (Gleeson, Joseph G., HUMAN MOLECULAR GENETICS, v.17, no.23, pp.3796 - 3805, 2008-12 |
| Cloning and characterization of the promoter region of the Wilson disease gene Oh, WJ; Kim, EK; Park, KD; Hahn, SH; Yoo, Ook-Joon, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, v.259, no.1, pp.206 - 211, 1999-05 |
| Defective ciliogenesis in thyroid hurthle cell tumors is associated with increased autophagy Lee, Junguee; Yi, Shinae; Kang, Yea Eun; Chang, Joon Young; Kim, Jung Tae; Sul, Hae Joung; Kim, Jong Ok; et al, ONCOTARGET, v.7, no.48, pp.79103 - 79116, 2016-11 |
| Development of Metabolic Synthetic Lethality and Its Implications for Thyroid Cancer Ju, Sang-Hyeon; Lee, Scong Eun; Kang, Yea Eun; Shong, Minho, ENDOCRINOLOGY AND METABOLISM, v.37, no.1, pp.53 - 61, 2022-02 |
| Diagnostic method for the detection of KIF5B-RET transformation in lung adenocarcinoma Go, Heounjeong; Jung, Yoo Jin; Kang, Hyun Woong; Park, In Kyu; Kang, Chang Hyun; Lee, Jung Wan; Ju, Young Seok; et al, LUNG CANCER, v.82, no.1, pp.44 - 50, 2013-10 |
Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes Kim, Yong Joon; Kim, Sungsoo; Jung, Yooju; Jung, Eunji; Kwon, Ho Jeong; Kim, Joon, JOURNAL OF CLINICAL INVESTIGATION, v.128, no.8, pp.3642 - 3648, 2018-08 |
| Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus Lee, Jeong Ho; Silhavy, Jennifer L.; Lee, Ji Eun; Al-Gazali, Lihadh; Thomas, Sophie; Davis, Erica E.; Bielas, Stephanie L.; et al, SCIENCE, v.335, no.6071, pp.966 - 969, 2012-02 |
| Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes Tubio, Jose M. C.; Li, Yi Long; Ju, Young Seok; Martincorena, Inigo; Cooke, Susanna L.; Tojo, Marta; Gundem, Gunes; et al, SCIENCE, v.345, no.6196, pp.531 - 531, 2014-08 |
| Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis Hong, Hyowon; Joo, Kwangsic; Park, Sang Min; Seo, Jimyung; Kim, Min Hwan; Shin, Eunbie; Cheong, Hae Il; et al, ANNALS OF NEUROLOGY, v.86, no.1, pp.99 - 115, 2019-07 |
| Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; et al, ELIFE, v.4, 2015-05 |
| Functional genomic screen for modulators of ciliogenesis and cilium length Kim, Joon; Lee, Ji Eun; Heynen-Genel, Susanne; Suyama, Eigo; Ono, Keiichiro; Lee, KiYoung; Ideker, Trey; et al, NATURE, v.464, no.7291, pp.1048 - 1051, 2010-04 |
| Gadd45 gamma expression is reduced in anaplastic thyroid cancer and its reexpression results in apoptosis Chung, Hyo Kyun; Yi, Yiong Weon; Jung, Neon Cheol; Kim, Daegun; Suh, Jae Mi; Kim, Ho; Park, Ki Cheol; et al, JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v.88, no.8, pp.3913 - 3920, 2003-08 |
| Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis Kim, Seon Young; Lee, Younghak; Kang, Yea Eun; Kim, Ji Min; Joung, Kyong Hye; Lee, Ju Hee; Kim, Koon Soon; et al, ENDOCRINOLOGY AND METABOLISM, v.33, no.3, pp.380 - 386, 2018-09 |
| Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations Jeong, Dajeong; Kim, Sung-Min; Min, Byung Joo; Kim, Ju Han; Ju, Young Seok; Ahn, Yong-Oon; Yun, Jiwon; et al, SCIENTIFIC REPORTS, v.12, no.1, 2022-05 |
| Humoral Immunity against SARS-CoV-2 and the Impact on COVID-19 Pathogenesis Lee, Eunjin; Oh, Ji Eun, MOLECULES AND CELLS, v.44, no.6, pp.392 - 400, 2021-07 |
| Identification of a pleiotropic effect of ADIPOQ on cardiac dysfunction and Alzheimer's disease based on genetic evidence and health care records Paik, Hyojung; Lee, Junehawk; Jeong, Chan-Seok; Park, Jun Sung; Lee, Jeong Ho; Rappoport, Nadav; Kim, Younghoon; et al, TRANSLATIONAL PSYCHIATRY, v.12, no.1, 2022-09 |
| Isocitrate dehydrogenase 2 protects mice from high-fat diet-induced metabolic stress by limiting oxidative damage to the mitochondria from brown adipose tissue Lee, Jae-Ho; Go, Younghoon; Kim, Do-Young; Lee, Sun Hee; Kim, Ok-Hee; Jeon, Yong Hyun; Kwon, Taeg Kyu; et al, EXPERIMENTAL AND MOLECULAR MEDICINE, v.52, no.2, pp.238 - 252, 2020-02 |
| Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis Park, Isaac; Kim, Kwang-eun; Kim, Jeesoo; Kim, Ae-Kyeong; Bae, Subin; Jung, Minkyo; Choi, Jinhyuk; et al, NATURE CHEMICAL BIOLOGY, v.20, pp.221 - 233, 2024-02 |
| Mitochondrial Protection by Exogenous Otx2 in Mouse Retinal Neurons Kim, Hyoung-Tai; Kim, Soung Jung; Sohn, Young-In; Paik, Sun-Sook; Caplette, R; Simonutti, Manuel; Moon, Kyeong Hwan; et al, CELL REPORTS, v.13, no.5, pp.990 - 1002, 2015-11 |
| MRP2 haplotypes confer differential susceptibility to toxic liver injury Choi, Ji Ha; Ahn, Byung Min; Yi, Jihyun; Lee, Jeong Ho; Nam, Soon Woo; Chon, Chae Yoon; Han, Kwang-Hyub; et al, PHARMACOGENETICS AND GENOMICS, v.17, pp.403 - 415, 2007-06 |
| New Approaches to SCLC Therapy: From the Laboratory to the Clinic Poirier, John T.; George, Julie; Owonikoko, Taofeek K.; Berns, Anton; Brambilla, Elisabeth; Byers, Lauren A.; Carbone, David; et al, JOURNAL OF THORACIC ONCOLOGY, v.15, no.4, pp.520 - 540, 2020-04 |
| Overexpression of VEGF and angiopoietin 2: A key to high vascularity of hepatocellular carcinoma? Moon, WS; Rhyu, KH; Kang, MJ; Lee, DG; Yu, HC; Yeum, JH; Koh, Gou Young; et al, MODERN PATHOLOGY, v.16, pp.552 - 557, 2003-06 |
| PARN and TOE1 Constitute a 3 ' End Maturation Module for Nuclear Non-coding RNAs Son, Ahyeon; Park, Jong-Eun; Kim, V. Narry, CELL REPORTS, v.23, no.3, pp.888 - 898, 2018-04 |
| Patterns of somatic structural variation in human cancer genomes Li, Yilong; Roberts, Nicola D.; Wala, Jeremiah A.; Shapira, Ofer; Schumacher, Steven E.; Kumar, Kiran; Khurana, Ekta; et al, NATURE, v.578, no.7793, pp.112 - 121, 2020-02 |
| Profiling of protein-protein interactions via single-molecule techniques predicts the dependence of cancers on growth-factor receptors Lee, Hong Won; Choi, Byung San; Kang, Han Na; Kim, Hyun Woo; Min, Ahrum; Cha, Minkwon; Ryu, Ji Young; et al, NATURE BIOMEDICAL ENGINEERING, v.2, no.4, pp.239 - 253, 2018-04 |
| Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report Song, Uisook; Ryu, Young Hye; Hong, Kiteak; Shim, So-Yeon; Park, Seongyeol; Lee, Jeong Seok; Ju, Young Seok; et al, BMC PEDIATRICS, v.21, no.1, 2021-10 |
| SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice El Chehadeh, Salima; Han, Kyung Ah; Kim, Dongwook; Jang, Gyubin; Bakhtiari, Somayeh; Lim, Dongseok; Kim, Hee Young; et al, NATURE COMMUNICATIONS, v.13, no.1, 2022-07 |
| Somatic evolution of marine transmissible leukemias in the common cockle, Cerastoderma edule Bruzos, Alicia L.; Santamarina, Martin; Garcia-Souto, Daniel; Diaz, Seila; Rocha, Sara; Zamora, Jorge; Lee, Yunah; et al, NATURE CANCER, v.4, no.11, pp.1575 - 1591, 2023-11 |
| Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy Kang, Hee Gyung; Lee, Hyun Kyung; Ahn, Yo Han; Joung, Je-Gun; Nam, Jaeyong; Kim, Nayoung K. D.; Ko, Jung Min; et al, EXPERIMENTAL AND MOLECULAR MEDICINE, v.48, 2016-08 |
| The first successful prenatal diagnosis on a Korean family with citrullinemia Hong, Kyeong-Man; Paik, Moon-Kee; Yoo, Ook-Joon; Hahn, Si-Houn, MOLECULES AND CELLS, v.10, no.6, pp.692 - 694, 2000-01 |
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Type
- 2,245 Article
- 670 Conference
- 129 Patent
- 15 Thesis(Master)
- 226 Thesis(Ph.D)
Open Access
- 339 OA Article
Date issued
- 737 2020 - 2024
- 1,540 2010 - 2019
- 672 2000 - 2009
- 192 1990 - 1999
- 40 1980 - 1989