Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hui Ram Kim"'
Autor:
Mee Hyun Song, Tae-Jun Kwon, Hui Ram Kim, Ju Hyun Jeon, Jeong-In Baek, Won-Sang Lee, Un-Kyung Kim, Jae Young Choi
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67236 (2013)
BACKGROUND: Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical a
Externí odkaz:
https://doaj.org/article/146b75be1e3f4fc982fb59b227d1413a
Autor:
Eun Shil Lee, Un Kyung Kim, Chang-Jin Jeon, Seung Eon Roh, Kyu Yup Lee, Se Kyung Oh, Hui Ram Kim, Tomitake Tsukihara, Soo Young Choi, Sang Jeong Kim
Publikováno v:
Human Genetics. 135:287-298
Gap junctions (GJs) are intercellular channels associated with cell-cell communication. Connexin 26 (Cx26) encoded by the GJB2 gene forms GJs of the inner ear, and mutations of GJB2 cause congenital hearing loss that can be syndromic or non-syndromic
Autor:
Jae Young Choi, Jaetae Lee, Jong Kyung Sonn, Un-Kyung Kim, Min-A Kim, Ye-Ri Kim, Hui Ram Kim, Mee Hyun Song, Kyu-Yup Lee
Publikováno v:
Molecular biology reports. 41(7)
The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with branchial cleft cysts of fistulae, hearing loss, ear malformation, and renal anomalies. Although approximately 40% of patien
Autor:
Juwon Kim, Joong Wook Shin, Kyung A. Lee, Jae Young Choi, Un Kyung Kim, Yoonjung Kim, Hong Joon Park, Hui Ram Kim
Publikováno v:
Biochemical and biophysical research communications. 430(3)
Introduction Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS and DFNB4 are genetically homogeneous disorders caused by bi-allelic SLC26A4 muta
Autor:
Jae Young Choi, Mee Hyun Song, Won Sang Lee, Tae-Jun Kwon, Hui Ram Kim, Jeong-In Baek, Un-Kyung Kim, Ju Hyun Jeon
Publikováno v:
PLOS ONE(8): 6
PLoS ONE
PLoS ONE, Vol 8, Iss 6, p e67236 (2013)
PLoS ONE
PLoS ONE, Vol 8, Iss 6, p e67236 (2013)
Background Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical an