38 research outputs found

    Impak Modenisasi dan Pengkomersilan Terhadap Keaslian Makanan Tradisi dan Identiti Budaya Etnik Kadazan- Dusun di Sabah

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    Modenisasi memainkan peranan besar terhadap perubahan identiti budaya sesebuah etnik termasuklah aspek makanan tradisi. Matlamat kajian ini adalah untuk mengkaji kesan modenisasi dan pengkomersilan terhadap keaslian makanan tradisi serta pelestarian identiti budaya dan mengenalpasti tahap serta kaedah pengkomersilan makanan berkenaan. Kajian ini memfokuskan kepada makanan tradisi etnik Kadazan-Dusun di Sabah khususnya tuhau dan bambangan. Kajian lapangan yang menggunakan teknik pengamatan turut serta, temu bual dan tinjauan soal selidik dilaksanakan di beberapa lokasi petempatan etnik Kadazan-Dusun termasuklah kawasan Pantai Barat Selatan (Kota Kinabalu, Penampang, Tuaran, Tamparuli, Ranau dan Kundasang), Pantai Barat Utara (Kudat, Sikuati dan Kota Marudu) dan Pedalaman atas (Tenom, Keningau, Tambunan, Nabawan dan Sook). Dapatan kajian mendapati bahawa pengkomersilan dan modenisasi mempengaruhi keaslian makanan tradisi etnik Kadazan-Dusun khususnya tuhau dan bambangan tetapi tidak melenyapkan identiti budaya etnik berkenaan kerana penyediaan secara tradisi masih turut dipasarkan dan mendapat sambutan dalam kalangan penduduk. Sementelah itu, lokasi petempatan mempengaruhi keaslian dan improvisasi serta tahap dan kaedah pengkomersilan makanan tradisi berkenaan. Antara faktor

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

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    \ua9 The Author(s) 2024.In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model. Furthermore, double-mutant zebrafish (srpk3−/−; ttn.1+/−) replicated the myopathic phenotype and showed myofibrillar disorganization. Transcriptome data suggest that the interaction of srpk3 and ttn.1 in zebrafish occurs at a post-transcriptional level. We propose that digenic inheritance of deleterious changes impacting both the protein kinase SRPK3 and the giant muscle protein titin causes a skeletal myopathy and might serve as a model for other genetic diseases

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

    Get PDF
    In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model. Furthermore, double-mutant zebrafish (srpk3-/-; ttn.1+/-) replicated the myopathic phenotype and showed myofibrillar disorganization. Transcriptome data suggest that the interaction of srpk3 and ttn.1 in zebrafish occurs at a post-transcriptional level. We propose that digenic inheritance of deleterious changes impacting both the protein kinase SRPK3 and the giant muscle protein titin causes a skeletal myopathy and might serve as a model for other genetic diseases

    Sintering and mechanical properties of β‐SiC powder obtained from waste tires

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    Plasma synthesized SiC powder obtained from quartz and carbonaceous residue of waste tires was successfully sintered at 1925 ℃ by pressureless liquid-phase method using yttria and alumina as sintering aids (T-SiC). Comparison with sintered SiC obtained from commercial powder (C-SiC) put in evidence of similar sintered density (98%T.D.), but much finer microstructure of T-SiC than that of C-SiC. T-SiC also showed higher flexural strength than C-SiC both at room temperature (508 vs. 458 MPa) and at 1500 ℃ (280 vs. 171 MPa). Difference in liquid phase was responsible for the differences in hardness and fracture toughness. The high value of the Young's modulus of T-SiC (427 MPa) confirmed the high degree of sinterability of this powder and that it can be a promising candidate for structural applications with high added value. © 2016, The Author(s)

    Pan-cancer analysis of whole genomes

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    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

    Comparative proteomic analysis on fruit ripening processes in two varieties of tropical mango (Mangifera indica)

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    Mango (Mangifera indica L.) is an economically important fruit. However, the marketability of mango is affected by the perishable nature and short shelf-life of the fruit. Therefore, a better understanding of the mango ripening process is of great importance towards extending its postharvest shelf life. Proteomics is a powerful tool that can be used to elucidate the complex ripening process at the cellular and molecular levels. This study utilized 2-dimensional gel electrophoresis (2D-GE) coupled with MALDI-TOF/TOF to identify differentially abundant proteins during the ripening process of the two varieties of tropical mango, Mangifera indica cv. ‘Chokanan’ and Mangifera indica cv ‘Golden Phoenix’. The comparative analysis between the ripe and unripe stages of mango fruit mesocarp revealed that the differentially abundant proteins identified could be grouped into the three categories namely, ethylene synthesis and aromatic volatiles, cell wall degradation and stress-response proteins. There was an additional category for differential proteins identified from the ‘Chokanan’ variety namely, energy and carbohydrate metabolism. However, of all the differential proteins identified, only methionine gamma-lyase was found in both ‘Chokanan’ and ‘Golden Phoenix’ varieties. Six differential proteins were selected from each variety for validation by analysing their respective transcript expression using reverse transcription-quantitative PCR (RT-qPCR). The results revealed that two genes namely, glutathione S-transferase (GST) and alpha-1,4 glucan phosphorylase (AGP) were found to express in concordant with protein abundant. The findings will provide an insight into the fruit ripening process of different varieties of mango fruits, which is important for postharvest management
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