Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Borum Sagong"'
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 10, Iss 1, Pp 50-55 (2017)
Objectives We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old ma
Externí odkaz:
https://doaj.org/article/75f6584811be4f5ca597ba2900318d45
Autor:
Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119443 (2015)
EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have
Externí odkaz:
https://doaj.org/article/b98682bdbbdc4997b516e4bb37e6b423
Autor:
Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95646 (2014)
Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of se
Externí odkaz:
https://doaj.org/article/75ea9775a8024d368e2e07792a330936
Autor:
Borum Sagong, Jeong-In Baek, Se-Kyung Oh, Kyung Jin Na, Jae Woong Bae, Soo Young Choi, Ji Yun Jeong, Jae Young Choi, Sang-Heun Lee, Kyu-Yup Lee, Un-Kyung Kim
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57237 (2013)
Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 genes have been reported as common causative genes of hearing loss in t
Externí odkaz:
https://doaj.org/article/60793e933c1642e9adcdc6cedd7b30e2
Publikováno v:
Cell and Tissue Research. 370:89-97
Clusterin (CLU) is an extracellular chaperone protein that is implicated in diverse physiological and pathophysiological cellular processes. CLU expression is upregulated in response to cellular stress and under certain conditions, such as neurodegen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7a6f098097adf80e9aaa4d848790bc
https://doi.org/10.1007/s00441-017-2650-8
https://doi.org/10.1007/s00441-017-2650-8
Publikováno v:
CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY(10): 1
Objectives We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03c24b0c90ea97861d34f1a7f3b3821
https://doi.org/10.21053/ceo.2016.00430
https://doi.org/10.21053/ceo.2016.00430
Autor:
Nari Ryu1, Borum Sagong1, Hong-Joon Park2, Min-A Kim1,3, Kyu-Yup Lee4, Jae Young Choi5, Un-Kyung Kim1,3 kimuk@knu.ac.kr
Publikováno v:
BMC Medical Genetics. 1/22/2016, Vol. 17, p1-6. 6p.
Autor:
Un-Kyung Kim, Jae Young Choi, Kyu-Yup Lee, Borum Sagong, Tae-Hun Kang, Hong-Joon Park, Sekyung Oh, Jeong-In Baek, Seok-Won Lee, Sang-Joo Kim
Publikováno v:
Gene. 591:177-182
Background Myosin is a key protein involved in regulating the shape and motility of cells. The MYH9 and MYH14 genes, which encode non-muscle myosin heavy chain IIA (NMMHC II-A) and IIC (NMMHC II-C), respectively, are expressed in the inner ear. These
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b355520343db21a49ed56412d8f6dac1
https://doi.org/10.1016/j.gene.2016.07.011
https://doi.org/10.1016/j.gene.2016.07.011
Autor:
Hong-Joon Park, Un-Kyung Kim, Sekyung Oh, Kyu-Yup Lee, Seung-Hyun Bae, Jae Young Choi, Jeong-In Baek, Borum Sagong, Sang-Joo Kim
Publikováno v:
Genes & Genomics. 38:961-966
The collagen type XI alpha 2 gene (COL11A2) is associated with autosomal dominant non-syndromic hearing loss (ADNSHL), and all mutations of this gene in ADNSHL are missense mutations. To evaluate its potential as a major causative gene of ADNSHL in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c30db9ed41eb1a464058d083cbd45710
https://doi.org/10.1007/s13258-016-0440-4
https://doi.org/10.1007/s13258-016-0440-4
Publikováno v:
Familial Cancer. 15:601-606
Familial paraganglioma (PGL) is a dominantly inherited disorder characterized by development of PGLs in the head and neck region. Germline mutations in genes coding for succinate dehydrogenase (SDH) subunits D, B, and C (SDHD, SDHB, SDHC) are found i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::809f90619c5688556ea8c9d4f6e3ef1c
https://doi.org/10.1007/s10689-016-9874-8
https://doi.org/10.1007/s10689-016-9874-8