Zobrazeno 1 - 10
of 220
pro vyhledávání: '"Ja‐Hyun Jang"'
Autor:
Mi-Ae Jang, Jong Kwon Lee, Jong-Ho Park, Sungsoon Hwang, Young-gon Kim, Jong-Won Kim, Youn-Ji Hong, Sang Jin Kim, Ja-Hyun Jang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established. We
Externí odkaz:
https://doaj.org/article/f042f98ef08443c5a7947d75a8f10cf5
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract This scientific report aims to comprehensively describe the genetic and clinical characteristics of PROM1-related retinal degeneration in Korean patients. Medical records of patients diagnosed with retinal dystrophy who underwent comprehensi
Externí odkaz:
https://doaj.org/article/808e51109f7e42748f1520a6c5c86c5f
Autor:
Tae Yeul Kim, Min-Seung Park, Sun Ae Yun, Minhee Kang, Doo Ri Kim, Areum Shin, Hyun-Young Kim, Mi-Ae Jang, Ja-Hyun Jang, Min-Jung Kwon, Hee Jae Huh, Yae-Jean Kim, Nam Yong Lee
Publikováno v:
Microbiology Spectrum, Vol 12, Iss 4 (2024)
ABSTRACTThe aim of this study was to compare the performance of the newly developed SMG HHV-6 Q Real-Time PCR Kit (SMG assay) with the RealStar HHV-6 PCR Kit (RealStar assay). The analytical sensitivity and specificity, linearity, and precision of th
Externí odkaz:
https://doaj.org/article/67bddb4288e54b51babe25064d27c2d7
Autor:
Minhee Kang, Eunjung Jeong, Ji-Yeon Kim, Sun Ae Yun, Mi-Ae Jang, Ja-Hyun Jang, Tae Yeul Kim, Hee Jae Huh, Nam Yong Lee
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract In the ongoing global fight against coronavirus disease 2019 (COVID-19), the sample preparation process for real-time reverse transcription polymerase chain reaction (rRT-PCR) faces challenges due to time-consuming steps, labor-intensive pro
Externí odkaz:
https://doaj.org/article/60a68dab0ff048519b9f8955731f4aef
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurologica
Externí odkaz:
https://doaj.org/article/a42e0f77ece4463f9f823f664258298e
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: RNA sequence analysis can be effectively used to identify aberrant splicing, and tumor suppressor genes are adequate targets considering their loss-of-function mechanisms. Sanger sequencing is the simplest method for RNA sequence analys
Externí odkaz:
https://doaj.org/article/3929c3d11572458d93308b262879befa
Autor:
Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Vascular Ehlers‐Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has limitations for diagnosis since exon deletion/duplication and splici
Externí odkaz:
https://doaj.org/article/df00328144864b81b29d23934d4cc772
Autor:
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lat
Externí odkaz:
https://doaj.org/article/c089b3d5ca8a4853bb48a1e9a785b7df
Autor:
Min Young Chun, Nam Jin Heo, Sang Won Seo, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifes
Externí odkaz:
https://doaj.org/article/a7555bf6cdbe43d58ce487553fb249c6
Autor:
Heui Seung Jo, Misun Yang, So Yoon Ahn, Se In Sung, Won Soon Park, Ja-Hyun Jang, Yun Sil Chang
Publikováno v:
Children, Vol 10, Iss 10, p 1673 (2023)
Standardized protocols have been designed and developed specifically for clinical information collection and obtaining trio genomic information from infants affected with congenital anomalies (CA) and their parents, as well as securing human biologic
Externí odkaz:
https://doaj.org/article/1ca7522d7bc44c218cd159017687d5fd