Browse "College of Life Science and Bioengineering(생명과학기술대학)" by Subject MUTATIONS

Showing results 1 to 60 of 111

1
A bivalent form of a RBD-specific synthetic antibody effectively neutralizes SARS-CoV-2 variants

Kim, Dong-Gun; Kim, Uijin; Park, In Ho; Ryu, Bumhan; Yoo, Youngki; Cha, Jeong Seok; Yoon, Ga-Yeon; et al, ANTIVIRAL RESEARCH, v.220, 2023-12

2
A Deficiency of the Psychiatric Risk Gene DLG2/PSD-93 Causes Excitatory Synaptic Deficits in the Dorsolateral Striatum

Yoo, Taesun; Joshi, Shambhu; Prajapati, Sanjaya; Cho, Yi Sul; Kim, Jinkyeong; Park, Pil-Hoon; Bae, Yong Chul; et al, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.15, 2022-07

3
A Novel N-terminal Region to Chromodomain in CHD7 is Required for the Efficient Remodeling Activity

Lee, Eunhye; Kang, Chanshin; Purhonen, Pasi; Hebert, Hans; Bouazoune, Karim; Hohng, Sungchul; Song, Ji-Joon, JOURNAL OF MOLECULAR BIOLOGY, v.433, no.18, 2021-09

4
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

5
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

6
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

7
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

8
Adnp-mutant mice with cognitive inflexibility, CaMKII alpha hyperactivity, and synaptic plasticity deficits

Cho, Heejin; Yoo, Taesun; Moon, Heera; Kang, Hyojin; Yang, Yeji; Kang, MinSoung; Yang, Esther; et al, MOLECULAR PSYCHIATRY, v.28, no.8, pp.3548 - 3562, 2023-08

9
Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant mice

Noh, Young Woo; Yook, Chaehyun; Kang, Jaeseung; Lee, Soowon; Kim, Yeonghyeon; Yang, Esther; Kim, Hyun; et al, COMMUNICATIONS BIOLOGY, v.5, no.1, 2022-08

10
Age, brain region, and gene dosage-differential transcriptomic changes in Shank3-mutant mice

Yoo, Taesun; Yoo, Ye-Eun; Kang, Hyojin; Kim, Eunjoon, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.15, 2022-10

11
Age-differential sexual dimorphisms in CHD8-S62X-mutant mouse synapses and transcriptomes

Lee, Soo Yeon; Kweon, Hanseul; Kang, Hyojin; Kim, Eunjoon, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.16, 2023-02

12
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

13
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

14
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

Kang, Eungu; Kang, Minji; Ju, Younghee; Lee, Sang-Joon; Lee, Yong-Seok; Woo, Dong-Cheol; Sung, Young Hoon; et al, JOURNAL OF MEDICAL GENETICS, v.58, no.11, pp.767 - 777, 2021-11

15
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

16
AtMYB21, a gene encoding a flower-specific transcription factor, is regulated by COP1

Shin, Byongchul; Choi, Goh; Yi, Hankuil; Yang, Seungchan; Cho, Insook; Kim, Jonghyun; Lee, Seunghee; et al, PLANT JOURNAL, v.30, no.1, pp.23 - 32, 2002-04

17
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

Won, Hye-Jung; Lee, Hye-Ryeon; Gee, Heon-Yung; Mah, Won; Kim, Jae-Ick; Lee, Ji-Seok; Ha, Seung-Min; et al, NATURE, v.486, no.7402, pp.261 - 265, 2012-06

18
Autophagic UVRAG Promotes UV-Induced Photolesion Repair by Activation of the CRL4(DDB2) E3 Ligase

Yang, Yong Fei; He, Shan Shan; Wang, Qiao Xiu; Li, Fan; Kwak, Mi Jeong; Chen, Sally; O’Connell, Douglas; et al, MOLECULAR CELL, v.62, no.4, pp.507 - 519, 2016-05

19
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

20
Brain region and gene dosage-differential transcriptomic changes in Shank2-mutant mice

Yoo, Ye-Eun; Yoo, Taesun; Kang, Hyojin; Kim, Eunjoon, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.15, 2022-10

21
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

22
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

23
Citron kinase interacts with LATS2 and inhibits its activity by occluding its hydrophobic phosphorylation motif

Tran, Thi Hai Yen; Yang, Dae Wook; Kim, Minchul; Lee, Da-Hye; Gai, Marta; Di Cunto, Ferdinando; Choi, Kwang-Wook; et al, JOURNAL OF MOLECULAR CELL BIOLOGY, v.11, no.11, pp.1006 - 1017, 2019-12

24
Clock and cycle Limit Starvation-Induced Sleep Loss in Drosophila

Keene, Alex C.; Duboue, Erik R.; McDonald, Daniel M.; Dus, Monica; Suh, Greg S. B.; Waddell, Scott; Blau, Justin, CURRENT BIOLOGY, v.20, no.13, pp.1209 - 1215, 2010-07

25
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

26
Combination of a STAT3 inhibitor with anti-PD-1 immunotherapy is an effective treatment regimen for a vemurafenib-resistant melanoma

Kim, Tae Woo; Kim, Yujin; Keum, Hyeongseop; Jung, Wonsik; Kang, Minho; Jon, Sangyong, MOLECULAR THERAPY-ONCOLYTICS, v.26, pp.1 - 14, 2022-09

27
Computational design of a neutralizing antibody with picomolar binding affinity for all concerning SARS-CoV-2 variants

Jeong, Bo-Seong; Cha, Jeong Seok; Hwang, Insu; Kim, Uijin; Adolf-Bryfogle, Jared; Coventry, Brian; Cho, Hyun-Soo; et al, MABS, v.14, no.1, 2022-12

28
Crumbs interacts with Xpd for nuclear division control in Drosophila

Yeom, E.; Hong, S-T; Choi, K-W, ONCOGENE, v.34, no.21, pp.2777 - 2789, 2015-05

29
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

30
Determination of single nucleotide variants in Escherichia coli DH5 alpha by using short-read sequencing

Song, Yoseb; Lee, Bo-Rahm; Cho, Suhyung; Cho, Yoo-Bok; Kim, Seon-Won; Kang, Taek Jin; Kim, Sun Chang; et al, FEMS MICROBIOLOGY LETTERS, v.362, no.11, 2015-05

31
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

32
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

33
Discs lost, a novel multi-PDZ domain protein, establishes and maintains epithelial polarity

Bhat, Manzoor A.; Izaddoost, Shayan; Lu, Yue; Cho, Kyungok; Choi, Kwang-Wook; Bellen, Hugo J., CELL, v.96, no.6, pp.833 - 845, 1999-03

34
Dna2 requirement for normal reproduction of Caenorhabditis elegans is temperature-dependent

Lee, KH; Lee, MH; Lee, TH; Han, JW; Park, YJ; Ahnn, J; Seo, Yeon-Soo; et al, MOLECULES AND CELLS, v.15, pp.81 - 86, 2003-02

35
Domain-specific early and late function of Dpatj in Drosophila photoreceptor cells

Nam, Sang-Chul; Choi, Kwang-Wook, DEVELOPMENTAL DYNAMICS, v.235, no.6, pp.1501 - 1507, 2006-06

36
Drosophila DJ-1 mutants show oxidative stress-sensitive locomotive dysfunction

Park, J; Kim, SY; Cha, GH; Lee, SB; Kim, S; Chung, Jongkyeong, GENE, v.361, no.1-2, pp.133 - 139, 2005-11

37
Early Chronic Memantine Treatment-Induced Transcriptomic Changes in Wild-Type and Shank2-Mutant Mice

Yoo, Ye-Eun; Lee, Seungjoon; Kim, Woohyun; Kim, Hyosang; Chung, Changuk; Ha, Seungmin; Park, Jinsu; et al, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.14, 2021-09

38
Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2(-/-) Mice

Chung, Changuk; Ha, Seungmin; Kang, Hyojin; Lee, Jiseok; Urn, Seung Min; Yan, Haidun; Yoo, Ye Eun; et al, BIOLOGICAL PSYCHIATRY, v.85, no.7, pp.534 - 543, 2019-04

39
EARLY DECISIONS IN DROSOPHILA EYE MORPHOGENESIS

BONINI, NM; Choi, Kwang-Wook, CURRENT OPINION IN GENETICS DEVELOPMENT, v.5, no.4, pp.507 - 515, 1995-08

40
Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming

Kim, Hyosang; Kim, Doyoun; Cho, Yisul; Kim, Kyungdeok; Roh, Junyeop Daniel; Kim, Yangsik; Yang, Esther; et al, NATURE COMMUNICATIONS, v.13, no.1, 2022-08

41
Effects of saturation mutagenesis of the phage SP6 promoter on transcription activity, presented by activity logos

Shin, I; Kim, J; Cantor, CR; KANG, Changwon, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.97, no.8, pp.3890 - 3895, 2000-04

42
ENGINEERED TYROSINE RESIDUES SERVE AS THE LOCAL PROBES TO DETECT A KINETIC INTERMEDIATE IN THE FOLDING OF RIBOSE-BINDING PROTEIN

KIM, D; KIM, C; PARK, C, JOURNAL OF MOLECULAR BIOLOGY, v.240, no.4, pp.385 - 395, 1994-07

43
Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice

Lim, Chae-Seok; Kim, Hyopil; Yu, Nam-Kyung; Kang, Sukjae Joshua; Kim, TaeHyun; Ko, Hyoung-Gon; Lee, Jaehyun; et al, NEUROPHARMACOLOGY, v.112, pp.104 - 112, 2017-01

44
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

45
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

46
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

47
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

48
FLUORESCENCE PROPERTIES OF THE 3 TYROSINE RESIDUES IN THE RIBOSE-BINDING PROTEIN

Kim, D; v, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, v.195, no.3, pp.1237 - 1244, 1993

49
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

50
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

51
GABA Neuronal Deletion of Shank3 Exons 14-16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

Yoo, Taesun; Cho, Heejin; Lee, Jiseok; Park, Haram; Yoo, Ye Eun; Yang, Esther; Kim, Jin Yong; et al, FRONTIERS IN CELLULAR NEUROSCIENCE, v.12, no.341, 2018-10

52
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

53
Gene Dosage- and Age-Dependent Differential Transcriptomic Changes in the Prefrontal Cortex of Shank2-Mutant Mice

Lee, Seungjoon; Kang, Hyojin; Jung, Hwajin; Kim, Eunjoon; Lee, Eunee, FRONTIERS IN MOLECULAR NEUROSCIENCE, v.14, 2021-06

54
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

55
Genetically probing the regions of ribose-binding protein involved in permease interaction

Eym, Y; Park, Y; Park, C, MOLECULAR MICROBIOLOGY, v.21, no.4, pp.695 - 702, 1996-08

56
Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes

Bernard, Clemence; Kim, Hyoung Tai; Ibad, Raoul Torero; Lee, Eun Jung; Simonutti, Manuel; Picaud, Serge; Acampora, Dario; et al, HUMAN MOLECULAR GENETICS, v.23, no.7, pp.1742 - 1753, 2014-04

57
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

58
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

59
Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550

Lee, Yejin; Kim, Hyeongju; Barker, Douglas; Vijayvargia, Ravi; Atwal, Ranjit Singh; Specht, Harrison; Keshishian, Hasmik; et al, HUMAN MOLECULAR GENETICS, v.32, no.1, pp.30 - 45, 2023-01

60
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

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