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  1. Article ; Online: Violaceous Nodules on the Right Leg and Foot.

    Chen, Tai-Li / Chuang, Hao-Kai / Wu, Chen-Yi

    JAMA

    2023  Volume 330, Issue 22, Page(s) 2209–2210

    MeSH term(s) Foot ; Leg ; Lower Extremity ; Prednisolone ; Skin Diseases/diagnosis
    Chemical Substances Prednisolone (9PHQ9Y1OLM)
    Language English
    Publishing date 2023-11-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2958-0
    ISSN 1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
    ISSN (online) 1538-3598
    ISSN 0254-9077 ; 0002-9955 ; 0098-7484
    DOI 10.1001/jama.2023.20118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.88: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese.

    Shih, Chien-Hung / Chuang, Hao-Kai / Hsiao, Tzu-Hung / Yang, Yi-Ping / Gao, Chong-En / Chiou, Shih-Hwa / Hsu, Chih-Chien / Hwang, De-Kuang

    Frontiers in genetics

    2023  Volume 14, Page(s) 1064659

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2023-02-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1064659
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis.

    Chuang, Hao-Kai / Hsieh, Ai-Ru / Ang, Tien-Yap / Chen, Szu-Wen / Yang, Yi-Ping / Huang, Hung-Juei / Chiou, Shih-Hwa / Lin, Tai-Chi / Chen, Shih-Jen / Hsu, Chih-Chien / Hwang, De-Kuang

    Investigative ophthalmology & visual science

    2023  Volume 64, Issue 12, Page(s) 17

    Abstract: Purpose: Retinal detachment (RD) is a sight-threatening ocular disease caused by separation of the neurosensory retina from the underlying retinal pigment epithelium layer. Its genetic basis is unclear because of a limited amount of data. In this study, ...

    Abstract Purpose: Retinal detachment (RD) is a sight-threatening ocular disease caused by separation of the neurosensory retina from the underlying retinal pigment epithelium layer. Its genetic basis is unclear because of a limited amount of data. In this study, we aimed to identify genetic risk loci associated with RD in participants without diabetes mellitus and to construct a polygenic risk score (PRS) to predict the risk of RD.
    Methods: A genome-wide association study was conducted using data from the Taiwan Biobank to identify RD risk loci. A total of 1533 RD cases and 106,270 controls were recruited, all of whom were Han Chinese. Replication studies were performed using data from the UK Biobank and Biobank Japan. To construct the PRS, a traditional clumping and thresholding method was performed and validated by fivefold cross-validation.
    Results: Two novel loci with significant associations were identified. These two genes were TMEM132D (lead single nucleotide polymorphism [SNP]: rs264498, adjusted-P = 7.18 × 10-9) and VIPR2 (lead SNP: rs3812305, adjusted-P = 8.38 × 10-9). The developed PRS was effective in discriminating individuals at high risk of RD with a dose-response relationship. The quartile with the highest risk had an odds ratio of 1244.748 compared to the lowest risk group (95% confidence interval, 175.174-8844.892).
    Conclusions: TMEM132D and VIPR2 polymorphisms are genetic candidates linked to RD in Han Chinese populations. Our proposed PRS was effective at discriminating high-risk from low-risk individuals.
    MeSH term(s) Humans ; Retinal Detachment/genetics ; Genome-Wide Association Study ; Risk Factors ; Polymorphism, Single Nucleotide ; Retina ; Receptors, Vasoactive Intestinal Peptide, Type II ; Membrane Proteins/genetics
    Chemical Substances VIPR2 protein, human ; Receptors, Vasoactive Intestinal Peptide, Type II ; TMEM132D protein, human ; Membrane Proteins
    Language English
    Publishing date 2023-09-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 391794-0
    ISSN 1552-5783 ; 0146-0404
    ISSN (online) 1552-5783
    ISSN 0146-0404
    DOI 10.1167/iovs.64.12.17
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 45: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article: Polygenic Risk Score Improves Cataract Prediction in East Asian Population.

    Hsu, Chih-Chien / Chuang, Hao-Kai / Hsiao, Yu-Jer / Teng, Yuan-Chi / Chiang, Pin-Hsuan / Wang, Yu-Jun / Lin, Ting-Yi / Tsai, Ping-Hsing / Weng, Chang-Chi / Lin, Tai-Chi / Hwang, De-Kuang / Hsieh, Ai-Ru

    Biomedicines

    2022  Volume 10, Issue 8

    Abstract: Cataracts, characterized by crystalline lens opacities in human eyes, is the leading cause of blindness globally. Due to its multifactorial complexity, the molecular mechanisms remain poorly understood. Larger cohorts of genome-wide association studies ( ... ...

    Abstract Cataracts, characterized by crystalline lens opacities in human eyes, is the leading cause of blindness globally. Due to its multifactorial complexity, the molecular mechanisms remain poorly understood. Larger cohorts of genome-wide association studies (GWAS) are needed to investigate cataracts’ genetic basis. In this study, a GWAS was performed on the largest Han population to date, analyzing a total of 7079 patients and 13,256 controls from the Taiwan Biobank (TWB) 2.0 cohort. Two cataract-associated SNPs with an adjustment of p < 1 × 10−7 in the older groups and nine SNPs with an adjustment of p < 1 × 10−6 in the younger group were identified. Except for the reported AGMO in animal models, most variations, including rs74774546 in GJA1 and rs237885 in OXTR, were not identified before this study. Furthermore, a polygenic risk score (PRS) was created for the young and old populations to identify high-risk cataract individuals, with areas under the receiver operating curve (AUROCs) of 0.829 and 0.785, respectively, after covariate adjustments. Younger individuals had 17.45 times the risk while older people had 10.97 times the risk when comparing individuals in the highest and lowest PRS quantiles. Validation analysis on an independent TWB1.0 cohort revealed AUROCs of 0.744 and 0.659.
    Language English
    Publishing date 2022-08-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2720867-9
    ISSN 2227-9059
    ISSN 2227-9059
    DOI 10.3390/biomedicines10081920
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Circular RNAs Modulate Cancer Hallmark and Molecular Pathways to Support Cancer Progression and Metastasis.

    Yarmishyn, Aliaksandr A / Ishola, Afeez Adekunle / Chen, Chieh-Yu / Verusingam, Nalini Devi / Rengganaten, Vimalan / Mustapha, Habeebat Aderonke / Chuang, Hao-Kai / Teng, Yuan-Chi / Phung, Van Long / Hsu, Po-Kuei / Lin, Wen-Chang / Ma, Hsin-I / Chiou, Shih-Hwa / Wang, Mong-Lien

    Cancers

    2022  Volume 14, Issue 4

    Abstract: Circular RNAs (circRNAs) are noncoding products of backsplicing of pre-mRNAs which have been established to possess potent biological functions. Dysregulated circRNA expression has been linked to diseases including different types of cancer. Cancer ... ...

    Abstract Circular RNAs (circRNAs) are noncoding products of backsplicing of pre-mRNAs which have been established to possess potent biological functions. Dysregulated circRNA expression has been linked to diseases including different types of cancer. Cancer progression is known to result from the dysregulation of several molecular mechanisms responsible for the maintenance of cellular and tissue homeostasis. The dysregulation of these processes is defined as cancer hallmarks, and the molecular pathways implicated in them are regarded as the targets of therapeutic interference. In this review, we summarize the literature on the investigation of circRNAs implicated in cancer hallmark molecular signaling. First, we present general information on the properties of circRNAs, such as their biogenesis and degradation mechanisms, as well as their basic molecular functions. Subsequently, we summarize the roles of circRNAs in the framework of each cancer hallmark and finally discuss the potential as therapeutic targets.
    Language English
    Publishing date 2022-02-09
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers14040862
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Genome-Wide Polygenic Risk Score for Predicting High Risk Glaucoma Individuals of Han Chinese Ancestry.

    Hsiao, Yu-Jer / Chuang, Hao-Kai / Chi, Sheng-Chu / Wang, Yung-Yu / Chiang, Pin-Hsuan / Teng, Pai-Chi / Kuang, Tung-Mei / Yarmishyn, Aliaksandr A / Lin, Tai-Chi / Hwang, De-Kuang / Chen, Shih-Jen / Chiou, Shih-Hwa / Chen, Mei-Ju / Hsieh, Ai-Ru / Hsu, Chih-Chien

    Journal of personalized medicine

    2021  Volume 11, Issue 11

    Abstract: Glaucoma is a progressive and irreversible blindness-causing disease. However, the underlying genetic factors and molecular mechanisms remain poorly understood. Previous genome-wide association studies (GWAS) have made tremendous progress on the SNP- ... ...

    Abstract Glaucoma is a progressive and irreversible blindness-causing disease. However, the underlying genetic factors and molecular mechanisms remain poorly understood. Previous genome-wide association studies (GWAS) have made tremendous progress on the SNP-based disease association and characterization. However, most of them were conducted for Europeans. Since differential genetic characteristics among ethnic groups were evident in glaucoma, it is worthwhile to complete its genetic landscape from the larger cohorts of Asian individuals. Here, we present a GWAS based on the Taiwan Biobank. Among 1013 glaucoma patients and 36,562 controls, we identified a total of 138 independent glaucoma-associated SNPs at the significance level of
    Language English
    Publishing date 2021-11-09
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662248-8
    ISSN 2075-4426
    ISSN 2075-4426
    DOI 10.3390/jpm11111169
    Database MEDical Literature Analysis and Retrieval System OnLINE

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