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المؤلفون: Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Kang MK; Department of Neurology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea., So KH; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Korea., Jang R; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Korea., Shin YW; Department of Neurology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea., Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Kim S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea., Kim M; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea., Chu K; Department of Neurology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea., Lee SK; Department of Neurology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea., Kim KJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Baek ST; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, Korea., Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Moon J; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Neurology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.

المصدر: Epilepsia open [Epilepsia Open] 2024 Aug; Vol. 9 (4), pp. 1538-1549. Date of Electronic Publication: 2024 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics, Humans ; Adult ; Male ; Female ; Mice ; Animals ; TOR Serine-Threonine Kinases/genetics ; Young Adult ; Adolescent ; Middle Aged ; Mutation ; Intellectual Disability/genetics ; Genetic Testing

المؤلفون: Kim TY; Department of Biology, Chungnam National University, Daejeon, 34134, South Korea., Roychaudhury A; Department of Biology, Chungnam National University, Daejeon, 34134, South Korea., Kim HT; Soonchunhyang Institute of Medi-bio Science (SIMS), Soonchunhyang University, Cheonan, 31151, South Korea., Choi TI; Department of Biology, Chungnam National University, Daejeon, 34134, South Korea., Baek ST; Department of Life Sciences, Pohang University of Science and Technology (POSTECH), Pohang, 37673, South Korea., Thyme SB; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL, USA. Summer.Thyme@umassmed.edu.; Department of Biochemistry and Molecular Biotechnology, UMass Chan Medical School, Worcester, MA, USA. Summer.Thyme@umassmed.edu., Kim CH; Department of Biology, Chungnam National University, Daejeon, 34134, South Korea. zebrakim@cnu.ac.kr.

المصدر: Translational psychiatry [Transl Psychiatry] 2024 Feb 08; Vol. 14 (1), pp. 82. Date of Electronic Publication: 2024 Feb 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish*/genetics , Zebrafish*/metabolism , Cerebellum*/metabolism, Animals ; Animals, Genetically Modified/metabolism ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism ; Brain/metabolism

المؤلفون: Kim SH; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Na C; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Yun CY; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea.; R&D Center, The Skin's Co. Ltd, Jecheon 27116, Korea., Kim JG; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Baek ST; R&D Center, The Skin's Co. Ltd, Jecheon 27116, Korea., An HJ; R&D Center, Yeomyung Biochem Co. Ltd, Cheongju 28172, Korea., Lee JD; R&D Center, Yeomyung Biochem Co. Ltd, Cheongju 28172, Korea., Lee SW; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Jung JK; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Hwang BY; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Han SB; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea., Kim Y; College of Pharmacy, Chungbuk National University, Cheongju 28160, Korea.

المصدر: International journal of biological sciences [Int J Biol Sci] 2024 Jan 01; Vol. 20 (1), pp. 312-330. Date of Electronic Publication: 2024 Jan 01 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ivyspring International Country of Publication: Australia NLM ID: 101235568 Publication Model: eCollection Cited Medium: Internet ISSN: 1449-2288 (Electronic) Linking ISSN: 14492288 NLM ISO Abbreviation: Int J Biol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Melanins*/metabolism , Hyperpigmentation*/metabolism, Humans ; Animals ; Mice ; Cyclic AMP Response Element-Binding Protein/metabolism ; Phosphorylation ; alpha-MSH/metabolism ; AMP-Activated Protein Kinases/metabolism ; Melanocytes/metabolism ; Microphthalmia-Associated Transcription Factor/genetics ; Microphthalmia-Associated Transcription Factor/metabolism ; Cell Line, Tumor

المؤلفون: Kim SH; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Republic of Korea., Kwon SS; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea., Park MR; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea., Lee HA; Department of Laboratory Medicine, Graduate School of Medical Science, Brain Korea 21 PLUS Project, Yonsei University College of Medicine, Seoul, Republic of Korea., Kim JH; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Republic of Korea., Cha J; Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Kim S; Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea; Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Republic of Korea., Baek ST; Department of Life Sciences, Pohang University of Science and Technology, Pohang, Republic of Korea., Kim SH; Department of Pathology, Yonsei University College of Medicine, Seoul, Republic of Korea., Lee JS; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Republic of Korea., Kim HD; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Republic of Korea., Choi JR; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea; Dxome, Seoul, Republic of Korea., Lee ST; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea; Dxome, Seoul, Republic of Korea. Electronic address: lee.st@yuhs.ac., Kang HC; Pediatric Neurology, Department of Pediatrics, Epilepsy Research Institute, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Republic of Korea. Electronic address: hipo0207@yuhs.ac.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2023 Aug; Vol. 25 (8), pp. 583-591. Date of Electronic Publication: 2023 Apr 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases* , Neurocutaneous Syndromes* , Neurodevelopmental Disorders*, Humans ; Gene Frequency ; High-Throughput Nucleotide Sequencing/methods ; Mosaicism ; Mutation ; Proto-Oncogene Proteins c-akt/genetics