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Article ; Online: Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome.

Choi, Naye / Kim, Hwa Young / Ko, Jung Min

2024 Volume 105, Issue 5, Page(s) 533–542

Abstract: Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed growth trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over ...

Abstract	Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed growth trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over an average of 4.4 years of follow-up in 51 children with BWS. We constructed sex-specific percentile curves for height, weight, and head circumference using a generalized additive model for location, scale, and shape. Males with BWS exhibited greater height at all ages evaluated, weight before the age of 10, and head circumference before the age of 9 than those of the general population. Females with BWS showed greater height before the age of 7, weight before the age of 4.5, and head circumference before the age of 7 than those of the general population. At the latest follow-up visit at a mean 8.4 years of age, bone age was significantly higher than chronological age. Compared to paternal uniparental disomy (pUPD), males with imprinting center region 2-loss of methylation (IC2-LOM) had higher standard deviation score (SDS) for height and weight, while females with IC2-LOM showed larger SDS for head circumference. These disease-specific growth charts can serve as valuable tools for clinical monitoring of children with BWS.
MeSH term(s)	Male ; Child ; Female ; Humans ; Beckwith-Wiedemann Syndrome/diagnosis ; Beckwith-Wiedemann Syndrome/genetics ; DNA Methylation/genetics ; Genomic Imprinting ; Retrospective Studies ; Growth Charts ; Growth Disorders ; Republic of Korea/epidemiology
Language	English
Publishing date	2024-01-24
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14488
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Article: Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Kim, Hwa Young / Ko, Jung Min

Annals of pediatric endocrinology & metabolism

2022 Volume 27, Issue 2, Page(s) 90–97

Abstract: Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor ... ...

Abstract	Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.
Language	English
Publishing date	2022-06-30
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2800460-7
ISSN	2287-1292 ; 2287-1012
ISSN (online)	2287-1292
ISSN	2287-1012
DOI	10.6065/apem.2244114.057
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Article: Temporal trends in the prevalence of metabolically healthy overweight and obesity in Korean youth: data from the Korea National Health and Nutrition Examination Survey 2011-2019.

Kim, Hwa Young / Kim, Jae Hyun

Annals of pediatric endocrinology & metabolism

2022 Volume 27, Issue 2, Page(s) 134–141

Abstract: Purpose: Metabolically healthy overweight/obesity (MHO) and metabolically unhealthy overweight/obesity (MUO) are distinct clinical phenotypes classified by the presence of cardiometabolic risk factors in an individual. In the present study, we ... ...

Abstract	Purpose: Metabolically healthy overweight/obesity (MHO) and metabolically unhealthy overweight/obesity (MUO) are distinct clinical phenotypes classified by the presence of cardiometabolic risk factors in an individual. In the present study, we investigated temporal trends in the prevalence of MHO in Korean adolescents using nationally representative data. Methods: Data from the Korea National Health and Nutrition Examination Survey 2011-2019 were used in this study. A total of 5,667 adolescents (3,014 boys, 53.2%) aged 10-18 years was included in this study. MHO was defined as a body mass index ≥85th percentile for the corresponding age and sex and absence of any cardiometabolic risk factors. Results: The prevalence of overweight/obesity showed an increasing trend from 18.8% (boys 17.3% and girls 20.6%) in 2011 to 23.7% (boys 24.0% and girls 23.5%) in 2019 (p for trend=0.045). The overall prevalence of MHO during 2011-2019 was 39.2%, which was higher in girls than in boys (boys 33.5%, girls 46.2%, p<0.001), and the change in prevalence of MHO from 2011 to 2019 (from 34.8% to 35.7%) was not significant. Among MUO, the most prevalent cardiometabolic risk factor was dysglycemia (48.8%), followed by elevated blood pressure (41.5%), low high-density lipoprotein cholesterol (35.0%), and high triglycerides (29.7%). Conclusion: We observed a high prevalence of MHO in Korean youth with overweight/obesity. Although the prevalence of overweight/obesity increased, the prevalence of MHO was stable during 2011-2019. A risk-stratified approach based on metabolic health status can help reducing the medical and socioeconomic costs associated with obesity treatment.
Language	English
Publishing date	2022-05-16
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2800460-7
ISSN	2287-1292 ; 2287-1012
ISSN (online)	2287-1292
ISSN	2287-1012
DOI	10.6065/apem.2142192.096
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Article ; Online: Novel pathogenic

Kim, Hyunji / Kim, Hwa Young / Kim, Jae Hyun / Seo, Soo Hyun / Park, Kyung Un

Cold Spring Harbor molecular case studies

2024 Volume 9, Issue 4

Abstract: The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initially diagnosed ...

Abstract	The diagnosis of maturity-onset diabetes of the young (MODY), a monogenic form of diabetes mellitus caused by a mutation in a single gene, is often uncertain until genetic testing is performed. We report a 13-yr-old Korean boy who was initially diagnosed with type 2 diabetes (T2DM). MODY was suspected because of his nonobese body habitus and family history of multiple affected members. Targeted panel sequencing of all MODY-related genes was performed using the NextSeq 550Dx platform (Illumina). Sanger sequencing was performed using blood samples from the parents, siblings, and other relatives. A frameshift variant in the 3' region of the last exon of
MeSH term(s)	Male ; Humans ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/diagnosis ; High-Throughput Nucleotide Sequencing ; Genetic Testing ; Mutation ; Republic of Korea
Language	English
Publishing date	2024-01-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a006305
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Article ; Online: Ochratoxin A induces hepatic and renal toxicity in mice through increased oxidative stress, mitochondrial damage, and multiple cell death mechanisms.

Son, Youlim / Lee, Hyun Jung / Ryu, Dojin / Kim, Jae-Ryong / Kim, Hwa-Young

Archives of toxicology

2024

Abstract: Ochratoxin A (OTA) is a widespread food toxin produced by Aspergillus ochraceus and other molds. In this study, we developed and established acute OTA toxicity conditions in mice, which received daily oral doses of OTA between 0.5 up to 8 mg/kg body ... ...

Abstract	Ochratoxin A (OTA) is a widespread food toxin produced by Aspergillus ochraceus and other molds. In this study, we developed and established acute OTA toxicity conditions in mice, which received daily oral doses of OTA between 0.5 up to 8 mg/kg body weight up to 7 days and were subjected to histological and biochemical analysis to characterize renal and hepatic damage. Oral administration of OTA for 7 days resulted in loss of body weight in a dose-dependent manner and increased the levels of serum biomarkers of hepatic and renal damage. The kidney was more sensitive to OTA-induced damage than the liver. In addition to necrosis, OTA induced hepatic and renal apoptosis in dose- and time-dependent manners. Especially, a high dose of OTA (8 mg/kg body weight) administered for 7 days led to necroptosis in both liver and kidney tissues. OTA dose-dependently increased the oxidative stress levels, including lipid peroxidation, in the liver and kidneys. OTA disrupted mitochondrial dynamics and structure in hepatic and renal cells, leading to the dysregulation of mitochondrial homeostasis. OTA increased transferrin receptor 1 and decreased glutathione peroxidase 4 levels in a dose- and time-dependent manner. These results suggest the induction of ferroptosis. Collectively, this study highlighted the characteristics of acute OTA-induced hepatic and renal toxicity in mice in terms of oxidative stress, mitochondrial damage, and multiple cell death mechanisms, including necroptosis and ferroptosis.
Language	English
Publishing date	2024-03-28
Publishing country	Germany
Document type	Journal Article
ZDB-ID	124992-7
ISSN	1432-0738 ; 0340-5761
ISSN (online)	1432-0738
ISSN	0340-5761
DOI	10.1007/s00204-024-03732-3
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Article ; Online: Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.

Kim, Hwa Young / Shin, Choong Ho / Shin, Chang Ho / Ko, Jung Min

PloS one

2023 Volume 18, Issue 8, Page(s) e0290450

Abstract: Imprinted genes are regulated by DNA methylation of imprinted differentially methylated regions (iDMRs). An increasing number of patients with congenital imprinting disorders (IDs) exhibit aberrant methylation at multiple imprinted loci, multi-locus ... ...

Abstract	Imprinted genes are regulated by DNA methylation of imprinted differentially methylated regions (iDMRs). An increasing number of patients with congenital imprinting disorders (IDs) exhibit aberrant methylation at multiple imprinted loci, multi-locus imprinting disturbance (MLID). We examined MLID and its possible impact on clinical features in patients with IDs. Genome-wide DNA methylation analysis (GWMA) using blood leukocyte DNA was performed on 13 patients with Beckwith-Wiedemann syndrome (BWS), two patients with Silver-Russell syndrome (SRS), and four controls. HumanMethylation850 BeadChip analysis for 77 iDMRs (809 CpG sites) identified three patients with BWS and one patient with SRS showing additional hypomethylation, other than the disease-related iDMRs, suggestive of MLID. Two regions were aberrantly methylated in at least two patients with BWS showing MLID: PPIEL locus (chromosome 1: 39559298 to 39559744), and FAM50B locus (chromosome 6: 3849096 to 3849469). All patients with BWS- and SRS-MLID did not show any other clinical characteristics associated with additional involved iDMRs. Exome analysis in three patients with BWS who exhibited multiple hypomethylation did not identify any causative variant related to MLID. This study indicates that a genome-wide approach can unravel MLID in patients with an apparently isolated ID. Patients with MLID showed only clinical features related to the original IDs. Long-term follow-up studies in larger cohorts are warranted to evaluate any possible phenotypic consequences of other disturbed imprinted loci.
MeSH term(s)	Humans ; Genomic Imprinting ; DNA Methylation ; Exome ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 6
Language	English
Publishing date	2023-08-18
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0290450
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Article ; Online: Dimerization Tendency of 3CLpros of Human Coronaviruses Based on the X-ray Crystal Structure of the Catalytic Domain of SARS-CoV-2 3CLpro.

Jo, Seri / Kim, Hwa Young / Shin, Dong Hae / Kim, Mi-Sun

International journal of molecular sciences

2022 Volume 23, Issue 9

Abstract: 3CLpro of SARS-CoV-2 is a promising target for developing anti-COVID19 agents. In order to evaluate the catalytic activity of 3CLpros according to the presence or absence of the dimerization domain, two forms had been purified and tested. Enzyme kinetic ... ...

Abstract	3CLpro of SARS-CoV-2 is a promising target for developing anti-COVID19 agents. In order to evaluate the catalytic activity of 3CLpros according to the presence or absence of the dimerization domain, two forms had been purified and tested. Enzyme kinetic studies with a FRET method revealed that the catalytic domain alone presents enzymatic activity, despite it being approximately 8.6 times less than that in the full domain. The catalytic domain was crystallized and its X-ray crystal structure has been determined to 2.3 Å resolution. There are four protomers in the asymmetric unit. Intriguingly, they were packed as a dimer though the dimerization domain was absent. The RMSD of superimposed two catalytic domains was 0.190 for 182 Cα atoms. A part of the long hinge loop (LH-loop) from Gln189 to Asp197 was not built in the model due to its flexibility. The crystal structure indicates that the decreased proteolytic activity of the catalytic domain was due to the incomplete construction of the substrate binding part built by the LH-loop. A structural survey with other 3CLpros showed that SARS-CoV families do not have interactions between DM-loop due to the conformational difference at the last turn of helix α7 compared with others. Therefore, we can conclude that the monomeric form contains nascent enzyme activity and that its efficiency increases by dimerization. This new insight may contribute to understanding the behavior of SARS-CoV-2 3CLpro and thus be useful in developing anti-COVID-19 agents.
MeSH term(s)	COVID-19 ; Catalytic Domain ; Coronavirus 3C Proteases ; Dimerization ; Humans ; Kinetics ; SARS-CoV-2 ; X-Rays
Chemical Substances	Coronavirus 3C Proteases (EC 3.4.22.28)
Language	English
Publishing date	2022-05-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23095268
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Article: Antiobesity Effect of a Novel Herbal Formulation

Choi, Hak Joo / Kim, Hwa Young / Park, Kyoung Sik

Evidence-based complementary and alternative medicine : eCAM

2021 Volume 2021, Page(s) 6612996

Abstract: A variety of natural products have been explored for their antiobesity potential and widely used to develop dietary supplements for the prevention of weight gain from excess body fat. In an attempt to find a natural antiobesity agent, this study was ... ...

Abstract	A variety of natural products have been explored for their antiobesity potential and widely used to develop dietary supplements for the prevention of weight gain from excess body fat. In an attempt to find a natural antiobesity agent, this study was designed to evaluate the antiobesity activity of a novel herbal formulation
Language	English
Publishing date	2021-02-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2171158-6
ISSN	1741-4288 ; 1741-427X
ISSN (online)	1741-4288
ISSN	1741-427X
DOI	10.1155/2021/6612996
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Zs.A 5995: Show issues

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Article ; Online: Whey Peptide Alleviates Muscle Atrophy by Strongly Regulating Myocyte Differentiation in Mice.

Lee, Jin A / Shin, Mi-Rae / Kim, Minju / Kim, Hwa-Young / Choi, Hwang-Yong / Seo, Yoojin / Choi, Hakjoo / Roh, Seong-Soo

Medicina (Kaunas, Lithuania)

2024 Volume 60, Issue 3

Abstract: Background and ... ...

Abstract	Background and Objectives
MeSH term(s)	Mice ; Animals ; Dexamethasone/adverse effects ; Whey/metabolism ; Phosphatidylinositol 3-Kinases/metabolism ; Phosphatidylinositol 3-Kinases/pharmacology ; Signal Transduction/physiology ; Mice, Inbred C57BL ; Muscular Atrophy/drug therapy ; Muscular Atrophy/etiology ; Muscle, Skeletal/pathology ; Muscle Fibers, Skeletal/metabolism ; Muscle Fibers, Skeletal/pathology ; Peptides/adverse effects
Chemical Substances	Dexamethasone (7S5I7G3JQL) ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Peptides
Language	English
Publishing date	2024-03-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2188113-3
ISSN	1648-9144 ; 1010-660X
ISSN (online)	1648-9144
ISSN	1010-660X
DOI	10.3390/medicina60030433
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Zs.A 6270: Show issues

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Article ; Online: A tryptophan-based assay method to search regulatory compounds for transcriptionally controlled tumor protein.

Jo, Seri / Jang, Eun-Hwa / Kim, Hwa Young / Lee, Kyunglim / Kim, Mi-Sun / Shin, Dong Hae

Biochemical and biophysical research communications

2023 Volume 692, Page(s) 149363

Abstract: Transcriptionally controlled tumor protein (TCTP) is a highly conserved protein performing a large number of cellular functions by binding with various partner proteins. The importance of its roles in many diseases requires an assay method to find ... ...

Abstract	Transcriptionally controlled tumor protein (TCTP) is a highly conserved protein performing a large number of cellular functions by binding with various partner proteins. The importance of its roles in many diseases requires an assay method to find regulatory compounds. However, the molecular characteristics of TCTP made it difficult to search for chemicals interacting with it. In this study, a tryptophan-based assay method was designed and Y151W mutant TCTP was constructed to search binding chemicals. Since there is no tryptophan in the native sequence of TCTP, the incorporation of tryptophan in the Y151W mutant was very effective to establish the method. A flavonoid library was employed to the assay with the method. With the native and Y151W mutant TCTPs, three flavonoids such as morin, myricetin and isobavachalcone have been found to interact with TCTP. Combined with native gel electrophoresis, the binding region of isobavachalcone was suggested to be the flexible loop of TCTP. This approach can be easily applicable to find binding compounds of proteins with similar molecular characteristics of TCTP.
MeSH term(s)	Humans ; Tryptophan ; Biomarkers, Tumor/metabolism ; Tumor Protein, Translationally-Controlled 1 ; Neoplasm Proteins/metabolism ; Neoplasms/metabolism
Chemical Substances	isobavachalcone (20784-50-3) ; Tryptophan (8DUH1N11BX) ; Biomarkers, Tumor ; Tumor Protein, Translationally-Controlled 1 ; Neoplasm Proteins
Language	English
Publishing date	2023-12-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	205723-2
ISSN	1090-2104 ; 0006-291X ; 0006-291X
ISSN (online)	1090-2104 ; 0006-291X
ISSN	0006-291X
DOI	10.1016/j.bbrc.2023.149363
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