GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
    MDPI AG ; 2023
    In:  International Journal of Molecular Sciences Vol. 24, No. 4 ( 2023-02-07), p. 3297-
    Details
    In: International Journal of Molecular Sciences, MDPI AG, Vol. 24, No. 4 ( 2023-02-07), p. 3297-
    Abstract: The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a structural perspective in 19 Korean patients with 5αRD2. Additionally, variants were classified according to structural categories, and phenotypic severity was compared with previously published data. The p.R227Q variant, which belongs to the NADPH-binding residue mutation category, exhibited a more masculine phenotype (higher external masculinization score) than other variants. Furthermore, compound heterozygous mutations with p.R227Q mitigated phenotypic severity. Similarly, other mutations in this category showed mild to moderate phenotypes. Conversely, the variants categorized as structure-destabilizing and small to bulky residue mutations showed moderate to severe phenotypes, and those categorized as catalytic site and helix-breaking mutations exhibited severe phenotypes. Therefore, the SRD5A2 structural approach suggested that a genotype-phenotype correlation does exist in 5αRD2. Furthermore, the categorization of SRD5A2 gene variants according to the SRD5A2 structure facilitates the prediction of the severity of 5αRD2 and the management and genetic counseling of patients affected by it.
    Type of Medium: Online Resource
    ISSN: 1422-0067
    URL: Article
    DOI: 10.3390/ijms24043297
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2019364-6
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
    MDPI AG ; 2023
    In:  Journal of Personalized Medicine Vol. 13, No. 6 ( 2023-06-13), p. 992-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 13, No. 6 ( 2023-06-13), p. 992-
    Abstract: Background: Patients with 5-α-reductase type 2 deficiency (5αRD2) require androgen treatment for the growth of normal male external genitalia. Since limited research has been conducted on the effects of androgen treatment on height in individuals with 5αRD2, we investigated the effect of androgen treatment on bone age (BA) and the height status in children with 5αRD2. Methods: Of the 19 participants who were followed up for an average of 10.6 years, 12 received androgen treatment. BA and height standard deviation scores (SDS) were compared between the treatment and non-treatment groups, as well as between the dihydrotestosterone (DHT) and testosterone enanthate (TE) treatment groups. Results: Despite the above-average height of the 19 patients with 5αRD2, the height SDS relative to BA (htSDS-BA) was below average, particularly in the androgen treatment group. DHT treatment did not lead to an increase in BA or htSDS-BA, whereas TE treatment resulted in BA advancement and decreased htSDS-BA, especially in the prepubertal period. Conclusions: DHT treatment is more favorable for height than TE treatment in patients with 5αRD2, particularly during the prepubertal period. Therefore, age and the type of androgen used should be carefully considered to minimize the risk of height reduction in these patient groups.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm13060992
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2662248-8
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Construction and Commissioning of PAL-XFEL Facility
    MDPI AG ; 2017
    In:  Applied Sciences Vol. 7, No. 5 ( 2017-05-17), p. 479-
    Details
    In: Applied Sciences, MDPI AG, Vol. 7, No. 5 ( 2017-05-17), p. 479-
    Type of Medium: Online Resource
    ISSN: 2076-3417
    URL: Article
    DOI: 10.3390/app7050479
    Language: English
    Publisher: MDPI AG
    Publication Date: 2017
    detail.hit.zdb_id: 2704225-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Total Repair Cost Simulation Considering Multiple Probabilistic Measures and Service Life
    MDPI AG ; 2021
    In:  Sustainability Vol. 13, No. 4 ( 2021-02-22), p. 2350-
    Details
    In: Sustainability, MDPI AG, Vol. 13, No. 4 ( 2021-02-22), p. 2350-
    Abstract: In this study, the total maintenance cost for public houses in South Korea was analyzed, and the effect of each repair process on the total maintenance cost was evaluated with probabilistic and deterministic methods. In the probabilistic method, quality of repair materials and construction skills were considered in the variability of extended service life through repair, while the deterministic method considered it by simple summation of repair step. The repair cost was analyzed considering the coefficient of variation (COV) of extended service life, so the reasonable total maintenance cost was able to be evaluated. Since the results through the probabilistic method provided a continuous cost line, a reasonable repair strategy was carried out by simply changing the intended service life of the structure. The repair cost was additionally analyzed with constant COV (0.15) of each repair process for considering various situations. The analysis results with a COV of 0.15 exhibited a slightly higher maintenance cost than those with current COV. The total maintenance costs can be adjusted if the initial repair timing is extended to the largest possible extent for the highest-repair-cost process since the total repair cost is dominated by the process with the highest repair cost.
    Type of Medium: Online Resource
    ISSN: 2071-1050
    URL: Article
    DOI: 10.3390/su13042350
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2518383-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Effect of Cement Types and Superabsorbent Polymers on the Properties of Sustainable Ultra-High-Performance Paste
    MDPI AG ; 2021
    In:  Materials Vol. 14, No. 6 ( 2021-03-18), p. 1497-
    Details
    In: Materials, MDPI AG, Vol. 14, No. 6 ( 2021-03-18), p. 1497-
    Abstract: This study focuses on the effects of superabsorbent polymers (SAP) and belite-rich Portland cement (BPC) on the compressive strength, autogenous shrinkage (AS), and micro- and macroscopic performance of sustainable, ultra-high-performance paste (SUHPP). Several experimental studies were conducted, including compressive strength, AS, isothermal calorimetry, X-ray diffraction (XRD), thermogravimetric analysis (TGA), attenuated total reflectance (ATR)–Fourier-transform infrared spectroscopy (FTIR), ultra-sonic pulse velocity (UPV), and electrical resistivity. The following conclusions can be made based on the experimental results: (1) a small amount of SAP has a strength promotion effect during the first 3 days, while BPC can significantly improve the strength over the following 28 days. (2) SAP slows down the internal relative humidity reduction and effectively reduces the development of AS. BPC specimens show a lower AS than other specimens. The AS shows a linear relationship with the internal relative humidity. (3) Specimens with SAP possess higher cumulative hydration heat than control specimens. The slow hydration rate in the BPC effectively reduces the exothermic heat. (4) With the increase in SAP, the calcium hydroxide (CH) and combined water content increases, and SAP thus improves the effect on cement hydration. The contents of CH and combined water in BPC specimens are lower than those in the ordinary Portland cement (OPC) specimen. (5) All samples display rapid hydration of the cement in the first 3 days, with a high rate of UPV development. Strength is an exponential function of UPVs. (6) The electrical resistivity is reduced due to the increase in porosity caused by the release of water from SAP. From 3 to 28 days, BPC specimens show a greater increment in electrical resistivity than other specimens.
    Type of Medium: Online Resource
    ISSN: 1996-1944
    URL: Article
    DOI: 10.3390/ma14061497
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2487261-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    Effect of Significant Coronary Artery Stenosis on Prognosis in Patients with Vasospastic Angina: A Propensity Score-Matched Analysis
    MDPI AG ; 2021
    In:  Journal of Clinical Medicine Vol. 10, No. 15 ( 2021-07-28), p. 3341-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 10, No. 15 ( 2021-07-28), p. 3341-
    Abstract: Vasospastic angina (VA) is a functional disease of the coronary artery and occurs in an angiographically normal coronary artery. However, it may also occur with coronary artery stenosis. We investigated the effect of coronary artery stenosis on clinical outcomes in VA patients. Study data were obtained from a prospective multicenter registry that included patients who had symptoms of VA. Patients were classified into two groups according to presence of significant coronary artery stenosis. Among 1920 patients with VA, 189 patients were classified in the “significant stenosis” group. The one-year composite clinical events rate was significantly higher in the significant stenosis group than in the “no significant stenosis” group (5.8% vs. 1.4%, respectively; p 〈 0.001). Additionally, the prevalence of ACS was significantly greater in the “significant stenosis” group (4.8% vs. 0.9%, respectively; p 〈 0.001). After propensity score matching, the adverse effects of significant stenosis remained. In addition, significant stenosis was independently associated with a 6.67-fold increased risk of ACS in VA patients. In conclusion, significant coronary artery stenosis can increase the adverse clinical outcomes in VA patients at long-term follow-up. Clinicians should manage traditional risk factors associated with atherosclerosis and control vasospasm as well as reduce the burden of atherosclerosis.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm10153341
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2662592-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    Epidemiological and Molecular Approaches for a Fatal Feline Panleukopenia Virus Infection of Captive Siberian Tigers (Panthera tigris altaica) in the Republic of Korea
    MDPI AG ; 2023
    In:  Animals Vol. 13, No. 18 ( 2023-09-21), p. 2991-
    Details
    In: Animals, MDPI AG, Vol. 13, No. 18 ( 2023-09-21), p. 2991-
    Abstract: Feline panleukopenia virus (FPV), a member of the species Protoparvovirus carnivoran1, is one of the most fatal pathogens of domestic and wild carnivores. The virus endemically infects domestic carnivores worldwide and its cross-species transmission threatens endangered wild carnivores, including Siberian tigers. In this study, a fatal FPV infection in endangered Siberian tigers was investigated to trace the origin of the virus and elucidate the reason behind FPV’s infection of the vaccinated tigers. Our genetic characterization and phylogenetic analysis revealed that the virus detected in the infected tigers, designated as the KTPV-2305 strain, was closely related to FPV strains circulating in Korean cats, suggesting that it might have been transmitted from stray cats wandering around the zoo. Compared with the prototype FPV reference strains, the KTPV-2305 strain carried three distinct amino acid (aa) mutations in the VP2 protein sequence (I101T, I232V, and L562V) in this study. These three mutations are commonly found in most global FPV strains, including Korean strains, indicating that these mutations are common evolutionary characteristics of currently circulating global FPVs. The reason why the vaccinated tigers were infected with FPV was most likely the insufficient protective immunity of the affected tigress or vaccine failure triggered by the interference of maternal-derived antibodies in the affected tiger cubs. These findings suggest that improved vaccination guidelines are urgently needed to save the lives of wild carnivores from this fatal virus.
    Type of Medium: Online Resource
    ISSN: 2076-2615
    URL: Article
    DOI: 10.3390/ani13182991
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2606558-7
    SSG: 23
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    Online Resource
    Online Resource
    β-COP Regulates TWIK1/TREK1 Heterodimeric Channel-Mediated Passive Conductance in Astrocytes
    MDPI AG ; 2022
    In:  Cells Vol. 11, No. 20 ( 2022-10-21), p. 3322-
    Details
    In: Cells, MDPI AG, Vol. 11, No. 20 ( 2022-10-21), p. 3322-
    Abstract: Mature astrocytes are characterized by a K+ conductance (passive conductance) that changes with a constant slope with voltage, which is involved in K+ homeostasis in the brain. Recently, we reported that the tandem of pore domains in a weak inward rectifying K+ channel (TWIK1 or KCNK1) and TWIK-related K+ channel 1 (TREK1 or KCNK2) form heterodimeric channels that mediate passive conductance in astrocytes. However, little is known about the binding proteins that regulate the function of the TWIK1/TREK1 heterodimeric channels. Here, we found that β-coat protein (COP) regulated the surface expression and activity of the TWIK1/TREK1 heterodimeric channels in astrocytes. β-COP binds directly to TREK1 but not TWIK1 in a heterologous expression system. However, β-COP also interacts with the TWIK1/TREK1 heterodimeric channel in a TREK1 dependent manner and enhances the surface expression of the heterodimeric channel in astrocytes. Consequently, it regulates TWIK1/TREK1 heterodimeric channel-mediated passive conductance in astrocytes in the mouse brain. Taken together, these results suggest that β-COP is a potential regulator of astrocytic passive conductance in the brain.
    Type of Medium: Online Resource
    ISSN: 2073-4409
    URL: Article
    DOI: 10.3390/cells11203322
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2661518-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    Increased Incidence and Associated Risk Factors of Aspergillosis in Patients with Bronchiectasis
    MDPI AG ; 2021
    In:  Journal of Personalized Medicine Vol. 11, No. 5 ( 2021-05-17), p. 422-
    Details
    In: Journal of Personalized Medicine, MDPI AG, Vol. 11, No. 5 ( 2021-05-17), p. 422-
    Abstract: There are insufficient data regarding the relationship between non-cystic fibrosis bronchiectasis and incident aspergillosis. We performed a population-based, matched cohort study using data from the Korean National Health Insurance database between 2003 and 2013. The incidence of aspergillosis was 50/100,000 person-years in the bronchiectasis cohort and 11/100,000 person-years in the matched cohort (subdistribution hazard ratio, 4.53; 95% confidence interval (CI), 3.25–6.32). Among the bronchiectasis cohort, chronic obstructive pulmonary disease (adjusted HR, 1.95; 95% CI, 1.07–3.57), previous pulmonary tuberculosis (adjusted HR, 3.67; 95% CI, 2.03–6.64), and non-tuberculous mycobacterial pulmonary disease (adjusted HR, 11.25; 95% CI, 1.49–85.18) increased the risk of incident aspergillosis. The incidence of aspergillosis in patients with bronchiectasis was approximately 4.5-fold that in those without bronchiectasis. Comorbid pulmonary diseases—chronic obstructive pulmonary disease, previous pulmonary tuberculosis, and non-tuberculous mycobacterial pulmonary disease—significantly increased the risk of aspergillosis in patients with bronchiectasis. Our study indicates that close monitoring is warranted for aspergillosis in patients with bronchiectasis.
    Type of Medium: Online Resource
    ISSN: 2075-4426
    URL: Article
    DOI: 10.3390/jpm11050422
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2662248-8
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    Virulence Traits and Azole Resistance in Korean Candida auris Isolates
    MDPI AG ; 2023
    In:  Journal of Fungi Vol. 9, No. 10 ( 2023-09-28), p. 979-
    Details
    In: Journal of Fungi, MDPI AG, Vol. 9, No. 10 ( 2023-09-28), p. 979-
    Abstract: We analyzed the virulence traits and azole resistance mechanisms of 104 Candida auris isolates collected from 13 Korean hospitals from 1996 to 2022. Of these 104 isolates, 96 (5 blood and 91 ear isolates) belonged to clade II, and 8 (6 blood and 2 other isolates) belonged to clade I. Fluconazole resistance (minimum inhibitory concentration ≥32 mg/L) was observed in 68.8% of clade II and 25.0% of clade I isolates. All 104 isolates were susceptible to amphotericin B and three echinocandins. In 2022, six clade I isolates indicated the first nosocomial C. auris cluster in Korea. Clade II C. auris isolates exhibited reduced thermotolerance at 42 °C, with diminished in vitro competitive growth and lower virulence in the Galleria mellonella model compared to non-clade II isolates. Of the 66 fluconazole-resistant clade II isolates, several amino acid substitutions were identified: Erg11p in 14 (21.2%), Tac1Ap in 2 (3.0%), Tac1Bp in 62 (93.9%), and Tac1Bp F214S in 33 (50.0%). Although there were a limited number of non-clade II isolates studied, our results suggest that clade II C. auris isolates from Korean hospitals might display lower virulence traits than non-clade II isolates, and their primary fluconazole resistance mechanism is linked to Tac1Bp mutations.
    Type of Medium: Online Resource
    ISSN: 2309-608X
    URL: Article
    DOI: 10.3390/jof9100979
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2784229-0
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...