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Your search keyword '"Won, Hong‐Hee"' showing total 9 results
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9 results on '"Won, Hong‐Hee"'

5. Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

Author

Miyashita, Akinori, primary, Koike, Asako, additional, Jun, Gyungah, additional, Wang, Li-San, additional, Takahashi, Satoshi, additional, Matsubara, Etsuro, additional, Kawarabayashi, Takeshi, additional, Shoji, Mikio, additional, Tomita, Naoki, additional, Arai, Hiroyuki, additional, Asada, Takashi, additional, Harigaya, Yasuo, additional, Ikeda, Masaki, additional, Amari, Masakuni, additional, Hanyu, Haruo, additional, Higuchi, Susumu, additional, Ikeuchi, Takeshi, additional, Nishizawa, Masatoyo, additional, Suga, Masaichi, additional, Kawase, Yasuhiro, additional, Akatsu, Hiroyasu, additional, Kosaka, Kenji, additional, Yamamoto, Takayuki, additional, Imagawa, Masaki, additional, Hamaguchi, Tsuyoshi, additional, Yamada, Masahito, additional, Morihara, Takashi, additional, Takeda, Masatoshi, additional, Takao, Takeo, additional, Nakata, Kenji, additional, Fujisawa, Yoshikatsu, additional, Sasaki, Ken, additional, Watanabe, Ken, additional, Nakashima, Kenji, additional, Urakami, Katsuya, additional, Ooya, Terumi, additional, Takahashi, Mitsuo, additional, Yuzuriha, Takefumi, additional, Serikawa, Kayoko, additional, Yoshimoto, Seishi, additional, Nakagawa, Ryuji, additional, Kim, Jong-Won, additional, Ki, Chang-Seok, additional, Won, Hong-Hee, additional, Na, Duk L., additional, Seo, Sang Won, additional, Mook-Jung, Inhee, additional, St. George-Hyslop, Peter, additional, Mayeux, Richard, additional, Haines, Jonathan L., additional, Pericak-Vance, Margaret A., additional, Yoshida, Makiko, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Yamamoto, Ken, additional, Tsuji, Shoji, additional, Kanazawa, Ichiro, additional, Ihara, Yasuo, additional, Schellenberg, Gerard D., additional, Farrer, Lindsay A., additional, and Kuwano, Ryozo, additional

Published
2013
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7. SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

Author

Miyashita, Akinori, Koike, Asako, Jun, Gyungah, Wang, Li-San, Takahashi, Satoshi, Matsubara, Etsuro, Kawarabayashi, Takeshi, Shoji, Mikio, Tomita, Naoki, Arai, Hiroyuki, Asada, Takashi, Harigaya, Yasuo, Ikeda, Masaki, Amari, Masakuni, Hanyu, Haruo, Ikeuchi, Takeshi, Higuchi, Susumu, Nishizawa, Masatoyo, Suga, Masaichi, Kawase, Yasuhiro, Akatsu, Hiroyasu, Kosaka, Kenji, Yamamoto, Takayuki, Imagawa, Masaki, Yamada, Masahito, Hamaguchi, Tsuyoshi, Moriaha, Takashi, Takeda, Masatoshi, Takao, Takeo, Nakata, Kenji, Fujisawa, Yoshikatsu, Sasaki, Ken, Watanabe, Ken, Nakashima, Kenji, Urakami, Katsuya, Ooya, Terumi, Takahashi, Mitsuo, Yuzuriha, Takefumi, Serikawa, Kayoko, Yoshimoto, Seishi, Nakagawa, Ryuji, Kim, Jong-Won, Ki, Chang-Seok, Won, Hong-Hee, Na, Duk L., Seo, Sang Won, Mook-Jung, Inhee, St. George-Hyslop, Peter, Mayeux, Richard, Haines, Jonathan L., Pericak-Vance, Margaret A., Yoshida, Makiko, Nishida, Nao, Tokunaga, Katsushi, Yamamoto, Ken, Tsuji, Shoji, Kanazawa, Ichiro, Ihara, Yasuo, Schellenberg, Gerard D., Farrer, Lindsay A., Kuwano, Ryozo, and Consortium, The Alzheimer Disease Genetics

Subjects
Epidemiology, SORL1, Gene Identification and Analysis, Genome-wide association study, PICALM, 0302 clinical medicine, Japan, Genotype, Odds Ratio, Genetics, 0303 health sciences, Multidisciplinary, Chromosome Mapping, Neurology, Genetic Epidemiology, Medicine, Research Article, Science, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, Molecular Genetics, 03 medical and health sciences, Asian People, Alzheimer Disease, Republic of Korea, Genome-Wide Association Studies, Humans, SNP, Genetic Predisposition to Disease, Allele, Alleles, LDL-Receptor Related Proteins, 030304 developmental biology, Chromosomes, Human, Pair 11, Haplotype, Membrane Transport Proteins, Human Genetics, Genetics of Disease, Genetic Polymorphism, Dementia, Population Genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values

Published
2013

9. SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15).

Author

Kim, Hee-Jin, Won, Hong-Hee, Park, Kyoung-Jin, Hong, Sung Hwa, Ki, Chang-Seok, Cho, Sang Sun, Venselaar, Hanka, Vriend, Gert, and Kim, Jong-Won

Subjects
*SINGLE nucleotide polymorphisms, *NUCLEOTIDE sequence, *GENETIC mutation, *HEARING disorders, *GENETIC disorders, *BIOINFORMATICS, *ALLELES
Abstract

Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for the considerable genetic heterogeneity. In this study, we utilized whole exome sequencing (WES) and linkage analysis for direct genetic diagnosis in AD-NSHL. The Korean family had typical AD-NSHL running over 6 generations. Linkage analysis was performed by using genome-wide single nucleotide polymorphism (SNP) chip and pinpointed a genomic region on 5q31 with a significant linkage signal. Sequential filtering of variants obtained from WES, application of the linkage region, bioinformatic analyses, and Sanger sequencing validation identified a novel missense mutation Arg326Lys (c.977G>A) in the POU homeodomain of the POU4F3 gene as the candidate disease-causing mutation in the family. POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation. Arg326Lys was the first missense mutation affecting the 3rd alpha helix of the POU homeodomain harboring a bipartite nuclear localization signal sequence. The phenotype findings in our family further supported previously noted intrafamilial and interfamilial variability of DFNA15. This study demonstrated that WES in combination with linkage analysis utilizing bi-allelic SNP markers successfully identified the disease locus and causative mutation in AD-NSHL. [ABSTRACT FROM AUTHOR]

Published
2013
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