Zobrazeno 1 - 10 of 28 pro vyhledávání: '"Song‐Ro Yoon"'
1
Akademický článek
Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.
Autor: Jordan Eboreime, Soo-Kung Choi, Song-Ro Yoon, Norman Arnheim, Peter Calabrese
Publikováno v: PLoS ONE, Vol 11, Iss 6, p e0158340 (2016)
We used targeted next generation deep-sequencing (Safe Sequencing System) to measure ultra-rare de novo mutation frequencies in the human male germline by attaching a unique identifier code to each target DNA molecule. Segments from three different h
Externí odkaz: https://doaj.org/article/3e7cdcecb44741dda6d61c33fa63d38a
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2
Akademický článek
Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.
Autor: Soo-Kyung Choi, Song-Ro Yoon, Peter Calabrese, Norman Arnheim
Publikováno v: PLoS Genetics, Vol 8, Iss 2, p e1002420 (2012)
Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times g
Externí odkaz: https://doaj.org/article/942c8ad1c0b546c6a814b26c01e6188c
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3
Akademický článek
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.
Autor: Song-Ro Yoon, Jian Qin, Rivka L Glaser, Ethylin Wang Jabs, Nancy S Wexler, Rebecca Sokol, Norman Arnheim, Peter Calabrese
Publikováno v: PLoS Genetics, Vol 5, Iss 7, p e1000558 (2009)
Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age ef
Externí odkaz: https://doaj.org/article/b487bfdd2de34f12944611e1dd9dfab8
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4
Akademický článek
The molecular anatomy of spontaneous germline mutations in human testes.
Autor: Jian Qin, Peter Calabrese, Irene Tiemann-Boege, Deepali Narendra Shinde, Song-Ro Yoon, David Gelfand, Keith Bauer, Norman Arnheim
Publikováno v: PLoS Biology, Vol 5, Iss 9, p e224 (2007)
The frequency of the most common sporadic Apert syndrome mutation (C755G) in the human fibroblast growth factor receptor 2 gene (FGFR2) is 100-1,000 times higher than expected from average nucleotide substitution rates based on evolutionary studies a
Externí odkaz: https://doaj.org/article/a166a3a216834ea4a792d0387bc47741
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7
Data from Contributions by MutL Homologues Mlh3 and Pms2 to DNA Mismatch Repair and Tumor Suppression in the Mouse
Autor: Steven M. Lipkin, R. Michael Liskay, Norman Arnheim, Kan Yang, Song-Ro Yoon, Denise Reichow, Leslie Paxton, Diana Dizon, Wayne Hagen, Sandra Dudley, Peng-Chieh Chen
Germ line DNA mismatch repair mutations in MLH1 and MSH2 underlie the vast majority of hereditary non-polyposis colon cancer. Four mammalian homologues of Escherichia coli MutL heterodimerize to form three distinct complexes: MLH1/PMS2, MLH1/MLH3, an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15088a6a0f509939d093c3be767f8e10
https://doi.org/10.1158/0008-5472.c.6494148
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8
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality
Autor: Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim
Publikováno v: Human mutationREFERENCES. 43(12)
Some spontaneous germline gain-of-function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the fre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f1e478ed65103a502267d86747eb65
https://pubmed.ncbi.nlm.nih.gov/36349709
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9
A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations
Autor: Soo-Kyung Choi, Norman Arnheim, Peter Calabrese, Song-Ro Yoon
Publikováno v: Proceedings of the National Academy of Sciences. 105:10143-10148
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. This condition is 100–1,000 times more common than genomic mutation frequency data predict. Here, we report on
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f43966349f1adb2221682531582e16
https://doi.org/10.1073/pnas.0801267105
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10
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain
Autor: Norman Arnheim, Song-Ro Yoon, Christine E. Keller-McGandy, Peggy F. Shelbourne, Nicola Veitch, Jean Paul G. Vonsattel, Louis Dubeau, Sarah J. Augood, Nancy S. Wexler, Wenya Linda Bi
Publikováno v: Human Molecular Genetics. 16:1133-1142
Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a255460799c056c46cd167982b60ff0
https://doi.org/10.1093/hmg/ddm054
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