Search Results - "Koo, SK"

Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP by Jo, H.-Y., Park, M.-H., Woo, H.-M., Han, M.H., Kim, B.-Y., Choi, B.-O., Chung, K.W., Koo, S.K.

“…Large insertions and deletions (indels), including copy number variations (CNVs), are commonly seen in many diseases. Standard approaches for indel detection…”
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Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans by Park, H-J, Lee, S-J, Jin, H-S, Lee, JO, Go, S-H, Jang, HS, Moon, S-K, Lee, S-C, Chun, Y-M, Lee, H-K, Choi, J-Y, Jung, S-C, Griffith, AJ, Koo, SK

“…Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene. In western…”
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In Vitro Differentiation of Mouse Embryonic Stem Cells: Enrichment of Endodermal Cells in the Embryoid Body by Choi, Dongho, Lee, Hye‐Ja, Jee, Seunghyun, Jin, Soojung, Koo, Soo Kyung, Paik, Seung Sam, Jung, Sung Chul, Hwang, Sue‐Yun, Lee, Kwang Soo, Oh, Bermseok

“…Embryonic stem (ES) cells have the potential to differentiate into all three germ layers, providing new perspectives not only for embryonic development but…”
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Gating Connexin 43 Channels Reconstituted in Lipid Vesicles by Mitogen-activated Protein Kinase Phosphorylation by Kim, D Y, Kam, Y, Koo, S K, Joe, C O

“…The regulation of gap junctional permeability by phosphorylation was examined in a model system in which connexin 43 (Cx43) gap junction hemichannels were…”
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In vivo differentiation of mouse embryonic stem cells into hepatocytes by Choi, Dongho, Oh, Hyun-Jeong, Chang, Uck-Jin, Koo, Soo Kyung, Jiang, Jean X, Hwang, Sue-Yun, Lee, Jung-Dal, Yeoh, George C, Shin, Hee-Sup, Lee, Jin-Sung, Oh, Bermseok

“…Embryonic stem (ES) cells have been regarded as a powerful resource for cell replacement therapy. In recent reports mouse ES cells have been successfully…”
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Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene by Kim, Sang-Wun, Jung, Jongsun, Oh, Hyun-Jeong, Kim, Jihong, Lee, Kwang-Soo, Lee, Dong-Hwan, Park, Chan, Kimm, Kuchan, Koo, Soo Kyung, Jung, Sung-Chul

“…Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We demonstrated PAH mutational…”
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The molecular basis of phenylketonuria in Koreans by Lee, Dong Hwan, Koo, Soo Kyung, Lee, Kwang-Soo, Yeon, Young-Joo, Oh, Hyun-Jeong, Kim, Sang-Wun, Lee, Sook-Jin, Kim, Sung-Soo, Lee, Jong-Eun, Jo, Inho, Jung, Sung-Chul

“…Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of…”
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Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria by Lee, Sook-Jin, Lee, Dong Hwan, Yoo, Han-Wook, Koo, Soo Kyung, Park, Eun-Sook, Park, Joo-Won, Lim, Hun Gil, Jung, Sung-Chul

“…Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene…”
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Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy by Oh, Hyun-Jeong, Lee, Hyejin, Park, Joo-Won, Rhee, Hwanseok, Koo, Soo Kyung, Kang, Seongman, Jo, Inho, Jung, Sung-Chul

“…Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency. Accumulation of phenylalanine leads to…”
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Transfer of second messengers through gap junction connexin 43 channels reconstituted in liposomes by Kam, Yoonseok, Kim, Doo Yeon, Koo, Soo Kyung, Joe, Cheol O.

“…Gap junction channels reconstituted in liposomes provide a pathway for the transfer of second messengers. Gap junction channels were formed in the artificial…”
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR by Lee, Tae-Mi, Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Koo, Soo Kyung, Jo, Inho, Kang, Seongman, Jung, Sung-Chul

“…Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of…”
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Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia by Song, Hae-Ryong, Lee, Kwang-Soo, Li, Qi-Wei, Koo, Soo Kyung, Jung, Sung-Chul

“…Mutations in the cartilage oligomeric matrix protein (COMP) gene are responsible for two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH)…”
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Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye by Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Lee, Tae-Mi, Koo, Soo Kyung, Lee, Yong-Jun, Jung, Sung-Chul

“…Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies,…”
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Combined Laser therapy for difficult dermal pigmentation : Resurfacing and selective photothermolysis by Park, S H, Koo, S H, Choi, E O

“…Treating pigmented lesions of the skin, especially deep dermal pigmentations, are difficult to achieve satisfactory results without complications. To treat…”
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Mesomelic dwarfism in pseudoachondroplasia by Song, Hae-Ryong, Li, Qi-Wei, Oh, Chang-Wug, Lee, Kwang-Soo, Koo, Soo Kyung, Jung, Sung-Chul

“…Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short…”
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In vitro inhibition of gap junctional intercellular communication by chemical carcinogens by Na, Mi Ra, Koo, Soo Kyung, Kim, Doo Yeon, Park, Sang Dai, Rhee, seung Keun, Kang, Ke Won, Joe, Cheol O.

“…This study was conducted to assess the effects of chemical carcinogens on the gap junction-mediated intercellular communication in cultured mammalian cells…”
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