- Understanding the Molecular Mechanisms of Asthma through Transcriptomics
-
Park HW, Weiss ST
- KMID: 2471225
- Allergy Asthma Immunol Res.
- 2020 May;12(3):399-411.
- doi: 10.4168/aair.2020.12.3.399
The transcriptome represents the complete set of RNA transcripts that are produced by the genome under a specific circumstance or in a specific cell. High-throughput methods, including microarray and bulk... -
- CITED
-
- Close
- SHARE
-
- Close
- Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study
-
Cakir M, Sag E, Islek A, Baran M, Tumgor G, Aydogdu S
- KMID: 2471624
- Pediatr Gastroenterol Hepatol Nutr.
- 2020 Mar;23(2):146-153.
- doi: 10.5223/pghn.2020.23.2.146
PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with... -
- CITED
-
- Close
- SHARE
-
- Close
- Targeted next-generation sequencing for locally advanced prostate cancer in the Korean population
-
Suh J, Jeong CW, Choi S, Ku JH, Kim HH, Kim KS, Kwak C
- KMID: 2471068
- Investig Clin Urol.
- 2020 Mar;61(2):127-135.
- doi: 10.4111/icu.2020.61.2.127
PURPOSE: This study aimed to evaluate the feasibility of pan-cancer panel analysis for locally advanced prostate cancer in the Korean population. MATERIALS AND METHODS: We analyzed 20 patients with locally advanced... -
- CITED
-
- Close
- SHARE
-
- Close
- Chinese Society of Allergy and Chinese Society of Otorhinolaryngology-Head and Neck Surgery Guideline for Chronic Rhinosinusitis
-
Liu Z, Chen J, Cheng L, Li H, Liu S, Lou H, Shi J, Sun Y, Wang D, Wang C, Wang X, Wei Y, Wen W, Yang P, Yang Q, Zhang G, Zhang Y, Zhao C, Zhu D, Zhu L, Chen F, Dong Y, Fu Q, Li J, Li Y, Liu C, Liu F, Lu M, Meng Y, Sha J, She W, Shi L, Wang K, Xue J, Yang L, Yin M, Zhang L, Zheng M, Zhou B, Zhang L
- KMID: 2468459
- Allergy Asthma Immunol Res.
- 2020 Mar;12(2):176-237.
- doi: 10.4168/aair.2020.12.2.176
The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology... -
- CITED
-
- Close
- SHARE
-
- Close
- Analysis of Integrons and Antimicrobial Resistances of Multidrug Resistant Escherichia coli Isolated in Korea
-
Yang YY, Suh MH
- KMID: 2468024
- J Bacteriol Virol.
- 2019 Dec;49(4):176-190.
- doi: 10.4167/jbv.2019.49.4.176
Antibacterial drugs are one of the most important therapeutic agents of bacterial infections but multidrug resistant Escherichia coli (MDREC) is an increasing problem worldwide. Major resistance mechanism of MDREC is... -
- CITED
-
- Close
- SHARE
-
- Close
- Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort
-
Koenighofer M, Parzefall , Frohne A, Allen M, Unterberger U, Laccone F, Schoefer C, Frei K, Lucas T
- KMID: 2462737
- Clin Exp Otorhinolaryngol.
- 2019 Nov;12(4):405-411.
- doi: 10.21053/ceo.2019.00304
OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused... -
- CITED
-
- Close
- SHARE
-
- Close
- New Perspectives in Pediatric Nonalcoholic Fatty Liver Disease: Epidemiology, Genetics, Diagnosis, and Natural History
-
Ko JS
- KMID: 2462089
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Nov;22(6):501-510.
- doi: 10.5223/pghn.2019.22.6.501
Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children. The global prevalence of pediatric NAFLD from general populations is 7.6%. In obese children,... -
- CITED
-
- Close
- SHARE
-
- Close
- Complementary Participation of Genetics and Epigenetics in Development of NSAID-exacerbated Respiratory Disease
-
Lee JU, Park JS, Chang HS, Park CS
- KMID: 2459183
- Allergy Asthma Immunol Res.
- 2019 Nov;11(6):779-794.
- doi: 10.4168/aair.2019.11.6.779
Nonsteroidal anti-inflammatory drug (NSAID)-exacerbated respiratory disease (NERD) has attracted a great deal of attention because of its association with severe asthma. However, it remains widely underdiagnosed in asthmatics as well... -
- CITED
-
- Close
- SHARE
-
- Close
- Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
-
Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK
- KMID: 2450949
- Ann Lab Med.
- 2019 Nov;39(6):545-551.
- doi: 10.3343/alm.2019.39.6.545
BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD... -
- CITED
-
- Close
- SHARE
-
- Close
- Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives
-
Ayatollahi H, Hosseini S, Hemmat M
- KMID: 2462227
- Healthc Inform Res.
- 2019 Oct;25(4):289-296.
- doi: 10.4258/hir.2019.25.4.289
OBJECTIVES: Genetic disorders are the main causes of many other diseases. Integrating genetic data into Electronic Health Records (EHRs) can facilitate the management of genetic information and care of patients... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations
-
Koohiyan M, Azadegan-Dehkordi F, Koohian F, Hashemzadeh-Chaleshtori M
- KMID: 2460017
- J Audiol Otol.
- 2019 Oct;23(4):175-180.
- doi: 10.7874/jao.2019.00059
Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review
-
Torres-Aguila NP, Carrera C, Muiño E, Cullell N, Cárcel-Márquez J, Gallego-Fabrega C, González-Sánchez J, Bustamante A, Delgado P, Ibañez L, Heitsch L, Krupinski , Montaner J, MartÃ-Fà bregas J, Cruchaga C, Lee JM, Fernandez-Cadenas I, Acute Endophenotypes Group of the International Stroke Genetics Consortium (ISGC)
- KMID: 2464645
- J Stroke.
- 2019 Sep;21(3):276-289.
- doi: 10.5853/jos.2019.01522
Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome,... -
- CITED
-
- Close
- SHARE
-
- Close
- Genetic aspects of type 1 diabetes
-
Lee HS, Hwang JS
- KMID: 2460760
- Ann Pediatr Endocrinol Metab.
- 2019 Sep;24(3):143-148.
- doi: 10.6065/apem.2019.24.3.143
Type 1 diabetes mellitus (T1DM) is characterized by autoimmune destruction of pancreatic beta-cells in genetically predisposed individuals, eventually resulting in severe insulin deficiency. It is the most common form of... -
- CITED
-
- Close
- SHARE
-
- Close
- Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
-
Kim YE, Ki CS, Jang MA
- KMID: 2450964
- Ann Lab Med.
- 2019 Sep;39(5):421-429.
- doi: 10.3343/alm.2019.39.5.421
In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which... -
- CITED
-
- Close
- SHARE
-
- Close
- Doctors Discussing “the Root of Koreansâ€: Medical Genetics and the Korean Origin, 1975–1987
-
Hyun J
- KMID: 2457673
- Korean J Med Hist.
- 2019 Aug;28(2):551-590.
- doi: 10.13081/kjmh.2019.28.551
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and... -
- CITED
-
- Close
- SHARE
-
- Close
- Genes Involved in Neurodevelopment, Neuroplasticity and Major Depression: No Association for CACNA1C, CHRNA7 and MAPK1
-
Calabrò M, Mandelli L, Crisafulli C, Lee SJ, Jun TY, Wang SM, Patkar AA, Masand PS, Han C, Pae CU, Serretti A
- KMID: 2457399
- Clin Psychopharmacol Neurosci.
- 2019 Aug;17(3):364-368.
- doi: 10.9758/cpn.2019.17.3.364
OBJECTIVE: Genetics factors are likely to play a role in the risk, clinical presentation and treatment outcome in major depressive disorder (MDD). In this study, we investigated the role of... -
- CITED
-
- Close
- SHARE
-
- Close
- Genome Engineering for Osteoarthritis: From Designer Cells to Disease-Modifying Drugs
-
Choi YR, Collins KH, Lee JW, Kang HJ, Guilak F
- KMID: 2455043
- Tissue Eng Regen Med.
- 2019 Aug;16(4):335-343.
- doi: 10.1007/s13770-018-0172-4
BACKGROUND: Osteoarthritis (OA) is a highly prevalent degenerative joint disease involving joint cartilage and its surrounding tissues. OA is the leading cause of pain and disability worldwide. At present, there... -
- CITED
-
- Close
- SHARE
-
- Close
- Letter: Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic Genetics
-
Wang HQ
- KMID: 2438893
- Ann Lab Med.
- 2019 Jul;39(4):417-418.
- doi: 10.3343/alm.2019.39.4.417
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives
-
Lee KY, Lee BD, Park JM, Lee YM, Moon E, Jeong HJ, Kim SY, Suh H, Chung YI, Kim SC
- KMID: 2451940
- Psychiatry Investig.
- 2019 Jun;16(6):450-458.
- doi: 10.30773/pi.2019.04.12
OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring... -
- CITED
-
- Close
- SHARE
-
- Close
- Necessity of Guidelines for Research in Forensic Science: DNA Identification
-
Jung KW
- KMID: 2448940
- Korean J Leg Med.
- 2019 May;43(2):54-63.
- doi: 10.7580/kjlm.2019.43.2.54
Forensic science is an academic field that utilizes scientific knowledge and the conducting of research in legal procedures. Recently, legal science has been receiving more attention since the use of... -
- CITED
-
- Close
- SHARE
-
- Close
