Search Results - "Jang, Ja‐Hyun"

Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database by Kim, Tae Yeul, Park, Min‐Seung, Jang, Ja‐Hyun, Woo, Hee‐Yeon, Cho, Duck

“…Background Null phenotypes are characterized by complete absence of all antigens within a blood group system and caused by null variants (e.g., nonsense,…”
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An Updated Comprehensive Review on Vitamin A and Carotenoids in Breast Cancer: Mechanisms, Genetics, Assessment, Current Evidence, and Future Clinical Implications by Kim, Jee Ah, Jang, Ja-Hyun, Lee, Soo-Youn

“…Vitamin A and carotenoids are fat-soluble micronutrients that play important role as powerful antioxidants modulating oxidative stress and cancer development…”
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Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean by Hwang, Sungsoon, Kang, Se Woong, Jang, Ja-Hyun, Kim, Sang Jin

“…This scientific report aims to comprehensively describe the genetic and clinical characteristics of PROM1-related retinal degeneration in Korean patients…”
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The novel missense variant c.350G>T on the ABOB.01 allele associated with a Bel phenotype by Kim, Tae Yeul, Yu, HongBi, Chung, Yoo Na, Jang, Ja‐Hyun, Cho, Duck

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Refractory ascites induced by mycophenolate in a pediatric kidney transplant patient by Kim, Jeong Yeon, Jang, Ja-Hyun, Cho, Heeyeon

“…Common side effects of mycophenolate mofetil (MMF) are diarrhea, leukopenia, and infectious complication. The polymorphisms of enzymes affecting MMF clearance…”
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Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach by Jang, Ja-Hyun, Lee, Taeheon, Bang, Sunghee, Kim, Young-Eun, Cho, Eun-Hae

“…Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present…”
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Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants by Ha, Changhee, Kim, Jong-Won, Jang, Ja-Hyun

“…Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic variants…”
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Evaluation of the Kaira COVID-19/Flu/RSV Detection Kit for detection of SARS-CoV-2, influenza A/B, and respiratory syncytial virus: A comparative study with the PowerChek SARS-CoV-2, influenza A&B, RSV Multiplex Real-time PCR Kit by Kim, Tae Yeul, Bae, Go Eun, Kim, Ji-Youn, Kang, Minhee, Jang, Ja-Hyun, Huh, Hee Jae, Chung, Doo Ryeon, Lee, Nam Yong

“…Co-circulation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and other respiratory viruses, such as influenza and respiratory syncytial virus…”
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Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib by Oh, Chung Ryul, Kong, Sun-Young, Im, Hyeon-Su, Kim, Hwa Jung, Kim, Min Kyeong, Yoon, Kyong-Ah, Cho, Eun-Hae, Jang, Ja-Hyun, Lee, Junnam, Kang, Jihoon, Park, Sook Ryun, Ryoo, Baek-Yeol

“…Although sorafenib is the global standard first-line systemic treatment for unresectable hepatocellular carcinoma (HCC), it does not have reliable predictive…”
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Optimization of extraction-free protocols for SARS-CoV-2 detection using a commercial rRT-PCR assay by Kang, Minhee, Jeong, Eunjung, Kim, Ji-Yeon, Yun, Sun Ae, Jang, Mi-Ae, Jang, Ja-Hyun, Kim, Tae Yeul, Huh, Hee Jae, Lee, Nam Yong

“…In the ongoing global fight against coronavirus disease 2019 (COVID-19), the sample preparation process for real-time reverse transcription polymerase chain…”
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Short tandem repeat expansions in cortical layer‐specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder by Kim, Jae Hyun, Koh, In Gyeong, Lee, Hyeji, Lee, Gang‐Hee, Song, Da‐Yea, Kim, Soo‐Whee, Kim, Yujin, Han, Jae Hyun, Bong, Guiyoung, Lee, Jeewon, Byun, Heejung, Son, Ji Hyun, Kim, Ye Rim, Lee, Yoojeong, Kim, Justine Jaewon, Park, Jung Woo, Kim, Il Bin, Choi, Jung Kyoon, Jang, Ja‐Hyun, Trost, Brett, Lee, Junehawk, Kim, Eunjoon, Yoo, Hee Jeong, An, Joon‐Yong

“…Aim Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic…”
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Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline by Kim, Jee Ah, Kwon, Won Kyung, Kim, Jong-Won, Jang, Ja-Hyun

“…Rett syndrome (RTT) is a progressive neurodevelopmental disorder caused by variants in MECP2. Emerging evidence of ethnic specificity of genetic variations has…”
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Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years by Hwang, Narae, Kim, Sang‐Mi, Kim, Young‐Gon, Ha, Changhee, Lee, Jeehun, Choi, Byung‐Ok, Sung, Won Jae, Kim, Seung Hyun, Kim, Young Mi, Lee, Yong‐Wha, Kim, Jieun, Kim, Jong‐Won, Jang, Ja‐Hyun, Lee, Jiwon, Park, Hyung‐Doo

“…Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC…”
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Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing by Kim, Jee Ah, Jang, Mi‐Ae, Jang, Shin Yi, Kim, Duk‐Kyung, Kim, Young‐gon, Kim, Jong‐Won, Park, Taek Kyu, Jang, Ja‐Hyun

“…Background Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin‐1), is a systemic connective tissue disorder with variable phenotypes and…”
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Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition by Ha, Changhee, Jang, Ja-Hyun, Kim, Young-gon, Kim, Jong-Won

“…Introduction: RNA sequence analysis can be effectively used to identify aberrant splicing, and tumor suppressor genes are adequate targets considering their…”
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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing by Kim, Yoo‐Mi, Lee, Yun‐Jin, Park, Jae Hong, Lee, Hyoung‐Doo, Cheon, Chong Kun, Kim, Su‐Young, Hwang, Jae‐Yeon, Jang, Ja‐Hyun, Yoo, Han‐Wook

“…Background As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for…”
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Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism by Kim, Ja Hye, Seo, Go Hun, Kim, Gu-Hwan, Huh, Juyoung, Hwang, Il Tae, Jang, Ja-Hyun, Yoo, Han-Wook, Choi, Jin-Ho

“…Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified either as Kallmann syndrome (KS) with anosmia or normosmic idiopathic…”
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Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome by Heo, Won Young, Jang, Shin Yi, Park, Taek Kyu, Ki, Chang-Seok, Kim, Jong-Won, Kim, Duk-Kyung, Jang, Ja-Hyun

“…Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease caused by aberrations in COL3A1, which encodes type III collagen. Sanger sequencing has…”
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A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences by Kim, Sang‐Mi, Noh, Eu Seon, Park, Jong‐Ho, Park, Hyung‐Doo, Lee, Soo‐Youn, Jang, Ja‐Hyun, Cho, Sung Yoon

“…Mucopolysaccharidosis type IVA (MPS IVA; Morquio syndrome type A) is an autosomal recessive disorder caused by defects in the lysosomal hydrolase…”
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Characteristic dysmorphic features in congenital disorders of glycosylation type IIb by Kim, Yoon-Myung, Seo, Go Hun, Jung, Euiseok, Jang, Ja-Hyun, Kim, Sook Za, Lee, Beom Hee

“…Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is…”
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