- Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
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Fan SP, Kuo YC, Lee NC, Chien YH, Hwu WL, Huang YH, Lin HI, Tseng TC, Su TH, Tzeng SR, Hsu CT, Chen HL, Lin CH, Ni YH
- KMID: 2542421
- J Mov Disord.
- 2023 May;16(2):168-179.
- doi: 10.14802/jmd.22161
ObjectiveaaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes... -
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- Trends in Saliva Research and Biomedical Clinical Applications
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Park S, Lee E, Shin J, Jeong T
- KMID: 2539892
- J Korean Acad Pediatr Dent.
- 2023 Feb;50(1):1-12.
- doi: 10.5933/JKAPD.2023.50.1.1
Function of salivary gland and saliva composition can be an indicator of individual’s health status. Recently, saliva has been thought to have a high potential for usage in the biomedical... -
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- Radiomic Models for Diagnosing Juvenile Myoclonic Epilepsy Should Note Its Genetic Heterogeneity
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Finsterer J
- KMID: 2539297
- Korean J Radiol.
- 2023 Feb;24(2):166-167.
- doi: 10.3348/kjr.2022.0982
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- Pathogenetic and etiologic considerations of febrile seizures
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Han JY, Han SB
- KMID: 2538995
- Clin Exp Pediatr.
- 2023 Feb;66(2):46-53.
- doi: 10.3345/cep.2021.01039
Febrile seizure (FS), which occurs in febrile children without underlying health problems, is the most common type of seizure disorder in children. The suggested pathogenesis of FS derived from several... -
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- Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response
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Sookoian S, Pirola CJ
- KMID: 2539800
- Clin Mol Hepatol.
- 2023 Feb;29(Suppl):S184-S195.
- doi: 10.3350/cmh.2022.0318
The knowledge on the genetic component of non-alcoholic fatty liver disease (NAFLD) has grown exponentially over the last 10 to 15 years. This review summarizes the current evidence and the... -
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- A genetic approach to comprehend the complex and dynamic event of floral development: a review
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Mohanty JN, Sahoo S, Mishra P
- KMID: 2540168
- Genomics Inform.
- 2022 Dec;20(4):e40.
- doi: 10.5808/gi.21075
The concepts of phylogeny and floral genetics play a crucial role in understanding the origin and diversification of flowers in angiosperms. Angiosperms evolved a great diversity of ways to display... -
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- 2022 Consensus Statement on the Management of Familial Hypercholesterolemia in Korea
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Lee CJ, Yoon M, Kang HJ, Kim BJ, Choi SH, Jeong IK, Lee SH, on behalf of Task Force Team for Familial Hypercholesterolemia, Korean Society of Lipid and Atherosclerosis
- KMID: 2536631
- Korean J Med.
- 2022 Dec;97(6):339-352.
- doi: 10.3904/kjm.2022.97.6.339
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical. Herein,... -
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- Development of a Secondary Dental-Specific Database for Active Learning of Genetics in Dentistry Programs
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Sharmin N, Chow AK, Govia S
- KMID: 2535813
- Healthc Inform Res.
- 2022 Oct;28(4):387-393.
- doi: 10.4258/hir.2022.28.4.387
Objectives: Dental students study the genetics of tooth and facial development through didactic lectures only. Meanwhile, scientists’ knowledge of genetics is rapidly expanding, over and above what is commonly found... -
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- Updates on Paget’s Disease of Bone
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Choi YJ, Sohn YB, Chung YS
- KMID: 2534625
- Endocrinol Metab.
- 2022 Oct;37(5):732-743.
- doi: 10.3803/EnM.2022.1575
Paget’s disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian countries, including China, Japan, and Korea. The... -
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- NUDT15 Genotyping in Thiopurine Drug Therapy
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Lee JK, Choi R, Lee SY
- KMID: 2538609
- Lab Med Online.
- 2022 Oct;12(4):217-226.
- doi: 10.47429/lmo.2022.12.4.217
Thiopurine is a pro-drug used to treat patients with inflammatory bowel disease, leukemia, malignancies, and autoimmune diseases as well as an immunosuppressive agent for post-transplantation states. Thiopurine drugs are metabolized... -
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- The Outcome of Long QT Syndrome, a Korean Single Center Study
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Ahn KJ, Song MK, Lee SY, Yoon JK, Kim GB, Oh S, Bae EJ
- KMID: 2534041
- Korean Circ J.
- 2022 Oct;52(10):771-781.
- doi: 10.4070/kcj.2022.0081
Background and Objectives: Although long QT syndrome (LQTS) is a potentially lifethreatening inherited cardiac channelopathy, studies documenting the long-term clinical data of Korean patients with LQTS are scarce. Methods: This retrospective... -
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- Personalized medicine in nonalcoholic fatty liver disease
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Pirola CJ, Sookoian S
- KMID: 2534359
- Clin Mol Hepatol.
- 2022 Oct;28(4):935-938.
- doi: 10.3350/cmh.2022.0175
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- 2022 Consensus statement on the management of familial hypercholesterolemia in Korea
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Lee CJ, Yoon M, Kang HJ, Kim BJ, Choi SH, Jeong IK, Lee SH, on behalf of Task Force Team for Familial Hypercholesterolemia, Korean Society of Lipid and Atherosclerosis
- KMID: 2533135
- Korean J Intern Med.
- 2022 Sep;37(5):931-944.
- doi: 10.3904/kjim.2022.121
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical. Herein,... -
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- Molecular characterization of chicken anemia virus in Guangxi Province, southern China, from 2018 to 2020
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Zhang M, Deng X, Xie Z, Zhang Y, Xie Z, Xie L, Luo S, Fan Q, Zeng T, Huang J, Wang S
- KMID: 2533389
- J Vet Sci.
- 2022 Sep;23(5):e63.
- doi: 10.4142/jvs.22023
Background: Chicken anemia virus (CAV) causes chicken infectious anemia, which results in immunosuppression; the virus has spread widely in chicken flocks in China. Objectives: The aim of this study was to... -
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- 2022 Consensus Statement on the Management of Familial Hypercholesterolemia in Korea
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Lee CJ, Yoon M, Kang HJ, Kim BJ, Choi SH, Jeong IK, Lee SH, oboTFTfFHKSoLaA
- KMID: 2533272
- J Lipid Atheroscler.
- 2022 Sep;11(3):213-228.
- doi: 10.12997/jla.2022.11.3.213
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical. Herein,... -
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- Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations
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Vitor Nobre , Júnior MT, Silva AR, Scombatti de Souza, SL, Fragoso Motta AC
- KMID: 2531877
- Ann Dermatol.
- 2022 Aug;34(4):291-296.
- doi: 10.5021/ad.20.120
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, consists of an unusual genodermatosis that affects tissues of ectodermal and mesodermal origin and various organs and systems, especially skin, bones,... -
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- Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network
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Mahesworo B, Budiarto A, Hidayat AA, Pardamean B
- KMID: 2532452
- Healthc Inform Res.
- 2022 Jul;28(3):247-255.
- doi: 10.4258/hir.2022.28.3.247
Objectives: Genome-wide association studies (GWAS) are performed to study the associations between genetic variants with respect to certain phenotypic traits such as cancer. However, the method that is commonly used... -
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- Osteoarthritis – Insights From Recent Research
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Kim HA
- KMID: 2530677
- J Rheum Dis.
- 2022 Jul;29(3):132-139.
- doi: 10.4078/jrd.2022.29.3.132
Osteoarthritis (OA) is the most common form of arthritis and is a growing public health concern in the aging society. In rapidly aging societies such as in Korea, the increasing... -
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- Report on the External Quality Assessment Scheme for Genetic Disorders and Other Human Genetics Molecular Diagnostics in Korea (2018–2021)
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Lee H, Kim B, Kim MJ, Lee JS, Cho SI, Shin HS, Seong MW
- KMID: 2531120
- Lab Med Qual Assur.
- 2022 Jun;44(2):61-75.
- doi: 10.15263/jlmqa.2022.44.2.61
The human genetics molecular diagnostic proficiency testing program of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials annually from 2018–2021. The program consisted of the same... -
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- Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors
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Nagashima Y, Nishimura Y, Eguchi K, Yamaguchi J, Haimoto S, Ohka F, Takayasu M, Saito R
- KMID: 2531536
- Neurospine.
- 2022 Jun;19(2):262-271.
- doi: 10.14245/ns.2244168.084
The study of genetic alterations and molecular biology in central nervous system (CNS) tumors has improved the accuracy of estimations of patient prognosis and tumor categorization. Therefore, the updated 2021... -
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