- The Physiological Functions and Polymorphisms of Type II Deiodinase
-
Deng Y, Han Y, Gao S, Dong W, Yu Y
- KMID: 2541875
- Endocrinol Metab.
- 2023 Apr;38(2):190-202.
- doi: 10.3803/EnM.2022.1599
Type II deiodinase (DIO2) is thought to provide triiodothyronine (T3) to the nucleus to meet intracellular needs by deiodinating the prohormone thyroxine. DIO2 is expressed widely in many tissues and... -
- CITED
-
- Close
- SHARE
-
- Close
- Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants
-
Sun Y, Zhu H, Esmaeili E, Tang X, Wu Z
- KMID: 2540998
- Korean J Anesthesiol.
- 2023 Apr;76(2):89-98.
- doi: 10.4097/kja.22654
Responses to sedatives, analgesics and muscle relaxants vary among patients under general anesthesia, which could be ascribed to the disparities of clinical characteristics and genetic factors of individuals. Accumulating researches... -
- CITED
-
- Close
- SHARE
-
- Close
- Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
-
Kang M, Ahn JW, Kim S, Seok HY, Park JS
- KMID: 2539093
- J Korean Neurol Assoc.
- 2023 Feb;41(1):68-72.
- doi: 10.17340/jkna.2023.1.13
Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most... -
- CITED
-
- Close
- SHARE
-
- Close
- Comparison of Risk Allele Frequencies of Psoriasis-Associated Single-Nucleotide Polymorphisms in Different Population Groups
-
Lee D, Koo T, Park J, Shin HT
- KMID: 2541096
- Ann Dermatol.
- 2023 Feb;35(1):32-37.
- doi: 10.5021/ad.22.110
Background: The prevalence of psoriasis differs by population, and it appears to be more common among Europeans than in East Asians. Recent genome-wide association studies (GWAS) have identified alleles that... -
- CITED
-
- Close
- SHARE
-
- Close
- Minor alleles in the FTO SNPs contributed to the increased risk of obesity among Korean adults: meta-analysis from nationwide big data-based studies
-
Kim OY, Park J, Lee J, Sohn C, Yoon MO, Lee M
- KMID: 2539453
- Nutr Res Pract.
- 2023 Feb;17(1):62-72.
- doi: 10.4162/nrp.2023.17.1.62
BACKGROUND/OBJECTIVES: Many studies have revealed an association between fat mass and the obesity-related gene (FTO) and obesity. On the other hand, no meta-analysis was conducted with data from only Koreans.... -
- CITED
-
- Close
- SHARE
-
- Close
- Fok I and Bsm I gene polymorphism of vitamin D receptor and essential hypertension: a mechanistic link
-
Awasthi R, Manger P, Khare R
- KMID: 2539440
- Clin Hypertens.
- 2023;29(1):5.
- doi: 10.1186/s40885-022-00229-y
The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to essential hypertension. The gene regulates the renin angiotensin system by influencing blood pressure regulation. Around... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
-
Kim BY, Kim DW, Park E, Kim J, Lee CG, Jin HS, Jeong SY
- KMID: 2537688
- J Genet Med.
- 2022 Dec;19(2):63-75.
- doi: 10.5734/JGM.2022.19.2.63
Purpose: Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced... -
- CITED
-
- Close
- SHARE
-
- Close
- Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies
-
Kim G, Lee Y, Park JH, Kim D, Lee W
- KMID: 2540177
- Genomics Inform.
- 2022 Dec;20(4):e49.
- doi: 10.5808/gi.22046
Many packages for a meta-analysis of genome-wide association studies (GWAS) have beendeveloped to discover genetic variants. Although variations across studies must be considered, there are not many currently-accessible packages that... -
- CITED
-
- Close
- SHARE
-
- Close
- The relationship of E-selectin singlenucleotide polymorphisms with breast cancer in Iraqi Arab women
-
Zakariya BF, Almohaidi AMS, Şimşek SA, Al-Waysi SA, Al-Dabbagh WH, Kamal AM
- KMID: 2540170
- Genomics Inform.
- 2022 Dec;20(4):e42.
- doi: 10.5808/gi.22042
Breast cancer (BC) is a significant threat to female health, with both modifiable andnon-modifiable risk factors. It is essential to monitor patients regularly and to raise population awareness. Increasing research... -
- CITED
-
- Close
- SHARE
-
- Close
- Common ABCB1 SNP, C3435T could affect systemic exposure of dapagliflozin in healthy subject
-
Hwang JG, Jeong SI, Kim YK, Lee Y, Ji SC, Lee S, Park MK
- KMID: 2538883
- Transl Clin Pharmacol.
- 2022 Dec;30(4):212-225.
- doi: 10.12793/tcp.2022.30.e23
P-glycoprotein (P-gp) is a transporter that plays an excretory role in epithelial cells. It is encoded by ABCB1, and single nucleotide polymorphisms (SNPs) in this gene can affect systemic drug... -
- CITED
-
- Close
- SHARE
-
- Close
- Demographic and Genome Wide Association Analyses According to Muscle Mass Using Data of the Korean Genome and Epidemiology Study
-
Gim JA, Lee S, Kim SC, Baek KW, Yoo JI
- KMID: 2537049
- J Korean Med Sci.
- 2022 Dec;37(50):e346.
- doi: 10.3346/jkms.2022.37.e346
Background: Sarcopenia is commonly found in the elderly due to a decline in muscle mass. Many researchers have performed genome-wide association studies (GWAS) to find genetic risk factors of sarcopenia. Although... -
- CITED
-
- Close
- SHARE
-
- Close
- Association of HLA-DPA1 polymorphism with prolonged mechanical ventilation in patients undergoing liver transplantation
-
Kim EJ, Kim MS, Kim MS, Nam J, Choi SH
- KMID: 2533438
- Korean J Anesthesiol.
- 2022 Oct;75(5):397-406.
- doi: 10.4097/kja.22014
Background: Prolonged mechanical ventilation (PMV) is a common complication after liver transplantation surgery. However, owing to the clinical and economic benefits of early extubation, many efforts have been used to... -
- CITED
-
- Close
- SHARE
-
- Close
- The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients
-
Lee Ck, Chon HJ, Kwon WS, Ban HJ, Kim SC, Kim H, Jeung HC, Chung J, Rha SY
- KMID: 2535364
- Genomics Inform.
- 2022 Sep;20(3):e29.
- doi: 10.5808/gi.22051
Several studies have shown associations between irinotecan toxicity and UGT1A genetic variations in colorectal and lung cancer, but only limited data are available for gastric cancer patients. We evaluated the... -
- CITED
-
- Close
- SHARE
-
- Close
- Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population
-
Ellithy HN, Yousry SM, Abdel-Aal A, Tawadros L, Momen N
- KMID: 2533251
- Blood Res.
- 2022 Sep;57(3):229-234.
- doi: 10.5045/br.2022.2022057
Background The pathophysiology underlying primary adult immune thrombocytopenic purpura (ITP) has not yet been identified. However, many mechanisms affect the immune system, causing defective tolerance to self-platelets and megakaryocytes. Cluster of... -
- CITED
-
- Close
- SHARE
-
- Close
- Endothelial nitric oxide synthase Glu298Asp gene polymorphism in the cases of idiopathic thrombocytopenic purpura
-
Akarsu S, Arslan FN, Erol D
- KMID: 2533250
- Blood Res.
- 2022 Sep;57(3):223-228.
- doi: 10.5045/br.2022.2022014
Background Nitric oxide (NO) can induce apoptosis in megakaryocytes. Stimulatory function of NO on platelet production may be important in the pathophysiology of idiopathic thrombocytopenic purpura (ITP). NO is produced by... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease
-
Kim MJ, Park SO, Hong YS, Park EA, Lee YB, Choi BO, Lee KA, Yu EJ, Kang IS
- KMID: 2531189
- J Genet Med.
- 2022 Jun;19(1):7-13.
- doi: 10.5734/JGM.2022.19.1.7
Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a... -
- CITED
-
- Close
- SHARE
-
- Close
- Apolipoprotein E Genotyping Using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism with General-Purpose Agarose and Lithium Borate Buffer
-
Oh K, Park G
- KMID: 2531128
- Lab Med Qual Assur.
- 2022 Jun;44(2):105-110.
- doi: 10.15263/jlmqa.2022.44.2.105
Background: Apolipoprotein E (APOE ) genotyping is an important test for predicting the risk of Alzheimer’s and cardiovascular disease. The polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) technique for APOE... -
- CITED
-
- Close
- SHARE
-
- Close
- Translocator Protein (18 kDa) Polymorphism (rs6971) in the Korean Population
-
Lee H, Noh Y, Kim WR, Seo HE, Park HM
- KMID: 2529459
- Dement Neurocogn Disord.
- 2022 Apr;21(2):71-78.
- doi: 10.12779/dnd.2022.21.2.71
Background and Purpose: The expression of the 18-kDA mitochondrial translocator protein (TSPO) in the brain is an attractive target to study neuroinflammation. However, the binding properties of TSPO ligands are... -
- CITED
-
- Close
- SHARE
-
- Close
- Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach
-
Ray M, Rath SN, Sarkar S, Sable MN
- KMID: 2527948
- Genomics Inform.
- 2022 Mar;20(1):e5.
- doi: 10.5808/gi.21070
Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetic Polymorphisms in the pvdhfr, pvmdr1, and pvdhps Genes of Plasmodium vivax in Patients at a Secondary Hospital in South Korea
-
Lee J, Kim H, Kim YR, Lee H
- KMID: 2527485
- Ann Clin Microbiol.
- 2022 Mar;25(1):13-19.
- doi: 10.5145/ACM.2022.25.1.2
Background: Plasmodium vivax is a major pathogen that causes malaria in South Korea. Several genetic polymorphisms in dihydrofolate reductase (pvdhfr), P. vivax multidrug resistance protein 1 (pvmdr1 ), and P. vivax... -
- CITED
-
- Close
- SHARE
-
- Close
