Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Ha Eun, Kong"'
Publikováno v:
JAAD Case Reports, Vol 44, Iss , Pp 6-10 (2024)
Externí odkaz:
https://doaj.org/article/17ada8254c194850b4459d5483e7bf2f
Publikováno v:
JAAD International, Vol 7, Iss , Pp 7-12 (2022)
Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrop
Externí odkaz:
https://doaj.org/article/e4c20287712b4600bba7dd56f81bda6d
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments
Externí odkaz:
https://doaj.org/article/f0c32f40804c4708bf799669b39c2232
Autor:
Yulin Jin, Kenong Su, Ha Eun Kong, Wenjing Ma, Zhiqin Wang, Yujing Li, Ronghua Li, Emily G Allen, Hao Wu, Peng Jin
Publikováno v:
Human Molecular Genetics. 32:218-230
DNA methylation plays a critical function in establishing and maintaining cell identity in brain. Disruption of DNA methylation-related processes leads to diverse neurological disorders. However, the role of DNA methylation characteristics in neurona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c3fe0d7067080c81536ba25f3154c5
https://doi.org/10.1093/hmg/ddac189
https://doi.org/10.1093/hmg/ddac189
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55–200 repeats) within the 5′ UTR of the fragile X gene (FMR1). FXTAS is characterized by intension tremor, cerebell
Externí odkaz:
https://doaj.org/article/70704104c19e4745963601059b66cd9a
Autor:
Ha Eun, Kong, Junghwa, Lim, Alexander, Linsalata, Yunhee, Kang, Indranil, Malik, Emily G, Allen, Yiqu, Cao, Lisa, Shubeck, Rich, Johnston, Yanting, Huang, Yanghong, Gu, Xiangxue, Guo, Michael E, Zwick, Zhaohui, Qin, Thomas S, Wingo, Jorge, Juncos, David L, Nelson, Michael P, Epstein, David J, Cutler, Peter K, Todd, Stephanie L, Sherman, Stephen T, Warren, Peng, Jin
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(22)
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a debilitating late-onset neurodegenerative disease in premutation carriers of the expanded CGG repeat in FMR1 that presents with a spectrum of neurological manifestations, such as gait ataxia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41085d2235672607c137326ca7ff6f70
https://pubmed.ncbi.nlm.nih.gov/35617426
https://pubmed.ncbi.nlm.nih.gov/35617426
Autor:
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Significance Expansion of 55-200 CGG repeats in the 5′ untranslated region of FMR1 predisposes carriers to fragile X–associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. FXTAS demonstrates incomplete penetrance, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1df20e3bb38f81d058ee328019f3f9f3
https://doi.org/10.1073/pnas.2118124119
https://doi.org/10.1073/pnas.2118124119
Autor:
Ha Eun Kong, Brian P. Pollack
Publikováno v:
JAAD international. 7
Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76e90b33d2fd4098db7f4187649fa3c
https://pubmed.ncbi.nlm.nih.gov/35243403
https://pubmed.ncbi.nlm.nih.gov/35243403
Autor:
Adam J Perricone, Harrison P. Nguyen, Benjamin K. Stoff, Justin Cheeley, Zachary J. Wolner, Ha Eun Kong
Publikováno v:
Journal of Cutaneous Pathology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24c23d7de91de1a2db346d59e093523
https://pubmed.ncbi.nlm.nih.gov/34519090
https://pubmed.ncbi.nlm.nih.gov/34519090
Autor:
Leslie P. Lawley, Mary K. Spraker, Grace Lee, Kuang-Ho Chen, Suephy C. Chen, S. Francois, Ha Eun Kong, Bridget Bradley, S. Smith, James S. Roberts
Publikováno v:
Pediatric dermatologyREFERENCES. 38(5)
BACKGROUND/OBJECTIVES Validated pruritus-specific quality of life and self-reported severity instruments exist primarily for adults. Clinical trials to develop therapeutics for children with chronic pruritus are hampered by the paucity of appropriate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bc84b4457d5c39b6d97b76099881ed
https://pubmed.ncbi.nlm.nih.gov/34339533
https://pubmed.ncbi.nlm.nih.gov/34339533