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218 result(s) for 'genetics' within Journal of Biomedical Science

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  1. Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. How...

    Authors: Raymond Henderson, Maurice O’Kane, Victoria McGilligan and Steven Watterson
    Citation: Journal of Biomedical Science 2016 23:39
  2. Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially l...

    Authors: Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso and Santo Gratteri
    Citation: Journal of Biomedical Science 2017 24:56
  3. Influenza vaccine manufacturers traditionally use egg-derived candidate vaccine viruses (CVVs) to produce high-yield influenza viruses for seasonal or pandemic vaccines; however, these egg-derived CVVs need an...

    Authors: Tsai-Teng Tzeng, Po-Ling Chen, Tsai-Chuan Weng, Shin-Yi Tsai, Chia-Chun Lai, Hsin-I Chou, Pin-Wen Chen, Chia-Chun Lu, Ming-Tsan Liu, Wang-Chou Sung, Min-Shi Lee and Alan Yung-Chih Hu
    Citation: Journal of Biomedical Science 2020 27:47
  4. Ongoing research and validation of current and previous findings is needed to determine if genetics does play a large role in V̇O2peak response variance, and whether genomic predictors for V̇O2peak response train...

    Authors: Camilla J. Williams, Zhixiu Li, Nicholas Harvey, Rodney A. Lea, Brendon J. Gurd, Jacob T. Bonafiglia, Ioannis Papadimitriou, Macsue Jacques, Ilaria Croci, Dorthe Stensvold, Ulrik Wisloff, Jenna L. Taylor, Trishan Gajanand, Emily R. Cox, Joyce S. Ramos, Robert G. Fassett…
    Citation: Journal of Biomedical Science 2021 28:37
  5. We examined the M splicing of human H1N1 and H3N2 viruses by comparing three H1N1 and H3N2 strains, respectively, through reverse transcriptase-polymerase chain reaction (RT-PCR) analyses. We randomly selected M ...

    Authors: Yi-Ju Han, Kuo-Ming Lee, Guan-Hong Wu, Yu-Nong Gong, Avijit Dutta and Shin-Ru Shih
    Citation: Journal of Biomedical Science 2023 30:10
  6. Influenza A viruses cause epidemics/severe pandemics that pose a great global health threat. Among eight viral RNA segments, the multiple functions of nucleoprotein (NP) play important roles in viral replicati...

    Authors: Su-Jhen Hung, Yin-Mei Hsu, Sheng-Wen Huang, Huey-Pin Tsai, Leo Yi Yang Lee, Aeron C. Hurt, Ian G. Barr, Shin-Ru Shih and Jen-Ren Wang
    Citation: Journal of Biomedical Science 2020 27:17
  7. Luciferase reporter assays were conducted to determine the effect of NS1 and its mutants on the RIG-I and TLR3 pathways to the activation of the IFN-β and NF-κB promoters. Coimmunoprecipitation and confocal micro...

    Authors: Chun-Yang Lin, Meng-Cen Shih, Hung-Chun Chang, Kuan-Jung Lin, Lin-Fang Chen, Sheng-Wen Huang, Mei-Lin Yang, Sheng-Kai Ma, Ai-Li Shiau, Jen-Ren Wang, Kuan-Ru Chen and Pin Ling
    Citation: Journal of Biomedical Science 2021 28:66
  8. Hepatitis B virus (HBV) persistently infected about 250 million people worldwide, and a curative treatment remains an unmet medical need. Among many approaches to treat chronic hepatitis B (CHB), therapeutic v...

    Authors: Jau-Hau Horng, Wei-Hsiang Lin, Chang-Ru Wu, You-Yu Lin, Li-Ling Wu, Ding-Shinn Chen and Pei-Jer Chen
    Citation: Journal of Biomedical Science 2020 27:70
  9. Gene copy number of complement component C4, which varies among individuals, may determine the intrinsic strength of the classical complement pathway. Presuming a major role of complement as an effecter in peptid...

    Authors: Yu-Huei Liu, Lei Wan, Chwen-Tzuei Chang, Wen-Ling Liao, Wen-Chi Chen, Yuhsin Tsai, Chang-Hai Tsai and Fuu-Jen Tsai
    Citation: Journal of Biomedical Science 2011 18:71
  10. The association between ischemic stroke and 2 single nucleotide polymorphisms (SNPs) on chromosome 12p13, rs12425791 and rs11833579 appears inconsistent across different samples. These SNPs are close to the ni...

    Authors: Yi-Chen Hsieh, Sudha Seshadri, Wen-Ting Chung, Fang-I Hsieh, Yi-Hsiang Hsu, Huey-Juan Lin, Hung-Pin Tseng, Li-Ming Lien, Chyi-Huey Bai, Chaur-Jong Hu, Jiann-Shing Jeng, Sung-Chun Tang, Chin-I Chen, Chia-Chen Yu and Hung-Yi Chiou
    Citation: Journal of Biomedical Science 2012 19:1
  11. Beta-thalassemia is common in the Mediterranean area as well as the Middle East and India. Official report in Iran revealed the average prevalence rate of carriers about 4%. More than 20 restriction fragment l...

    Authors: Mohammad Bagher Hashemi-Soteh, Seyed Saeed Mousavi and Alireza Tafazoli
    Citation: Journal of Biomedical Science 2017 24:92
  12. Cancer immunoediting is a dynamic process composed of three phases: elimination (EL), equilibrium (EQ) and escape (ES) that encompasses the potential host-protective and tumor-sculpting functions of the immune...

    Authors: Lucas Pagura, Juan Manuel Cáceres, Albertina Cardinale, Olga Graciela Scharovsky, Ricardo José Di Masso, Mariano Federico Zacarías-Fluck, María José Rico and Viviana Rosa Rozados
    Citation: Journal of Biomedical Science 2014 21:52
  13. Neurological disorders such as stroke, multiple sclerosis, as well as the neurodegenerative diseases Parkinson's or Alzheimer's disease are accompanied or even powered by danger associated molecular patterns (...

    Authors: Reiner Kunze, Silvia Fischer, Hugo H. Marti and Klaus T. Preissner
    Citation: Journal of Biomedical Science 2023 30:64
  14. Phenotypic heterogeneity is very common in genetic systems and in human diseases and has important consequences for disease diagnosis and treatment. In addition to the many genetic and non-genetic (e.g., epige...

    Authors: Y. Henry Sun, Yueh-Lin Wu and Ben-Yang Liao
    Citation: Journal of Biomedical Science 2023 30:58
  15. Type 2 diabetes mellitus (T2DM) is a non-autoimmune, complex, heterogeneous and polygenic metabolic disease condition characterized by persistent elevated blood glucose levels (hyperglycemia). India as said to...

    Authors: Shania Abbas, Syed Tasleem Raza, Faisal Ahmed, Absar Ahmad, Saliha Rizvi and Farzana Mahdi
    Citation: Journal of Biomedical Science 2013 20:80
  16. In the present study, we investigated a low-passage human isolate of the East/ Central/South African (ECSA) lineage of CHIKV strain LK(EH)CH6708, which exhibited a mix of small and large viral plaques. The small ...

    Authors: Huixin Chen, Patchara Phuektes, Li Sze Yeo, Yi Hao Wong, Regina Ching Hua Lee, Bowen Yi, Xinjun Hou, Sen Liu, Yu Cai and Justin Jang Hann Chu
    Citation: Journal of Biomedical Science 2024 31:8
  17. Human traits, diseases susceptibility, and clinical outcomes vary hugely among individuals. Despite a fundamental understanding of genetic (or environmental) contributions, the detailed mechanisms of how genet...

    Authors: Yu-Wen Hsu, Henry Sung-Ching Wong, Wan-Chen Huang, Yi-Hung Yeh, Chwan-Deng Hsiao, Wei-Chiao Chang and Shie-Liang Hsieh
    Citation: Journal of Biomedical Science 2022 29:43
  18. Peroxisome proliferator activated receptor gamma (PPARG) belongs to the nuclear receptor superfamily functioning as transcription factors to regulate cellular differentiation, development and metabolism. Moreover...

    Authors: Maria García-Ricobaraza, Mercedes García-Bermúdez, Francisco J. Torres-Espinola, M. Teresa Segura Moreno, Mathieu N. Bleyere, Ligia E. Díaz-Prieto, Esther Nova, Ascensión Marcos and Cristina Campoy
    Citation: Journal of Biomedical Science 2020 27:101
  19. Cancer susceptibility germline mutations are associated with pancreatic ductal adenocarcinoma (PDAC). However, the hereditary status of PDAC and its impact on survival is largely unknown in the Asian population.

    Authors: Siao Muk Cheng, Yung-Yeh Su, Nai-Jung Chiang, Chih-Jung Wang, Ying-Jui Chao, Chien-Jui Huang, Hui-Jen Tsai, Shang-Hung Chen, Chi-Yen Chang, Chia-Rung Tsai, Yi-Jie Li, Chia-Jui Yen, Shih-Chang Chuang, Jeffrey Shu-Ming Chang, Yan-Shen Shan, Daw-Yang Hwang…
    Citation: Journal of Biomedical Science 2024 31:21
  20. Colorectal cancer (CRC) is a major health concern worldwide, and recently becomes the most common cancer in Asia. The case collection of this study is one of the largest sets of CRC in Asia, and serves as repr...

    Authors: Chien-Hsing Lin, Jen-Kou Lin, Shih-Ching Chang, Ya-Hui Chang, Hwey-May Chang, Jin-Hwang Liu, Ling-Hui Li, Yuan-Tsong Chen, Shih-Feng Tsai and Wei-Shone Chen
    Citation: Journal of Biomedical Science 2011 18:36
  21. In the original publication of this article [1], there are two errors in the article which the cDNA position of the pathogenic variant WNT1 p.Gly324Cys should be c.970G>T instead of c.1168G>T.

    Authors: Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo and Mariam Anees
    Citation: Journal of Biomedical Science 2019 26:31

    The original article was published in Journal of Biomedical Science 2018 25:82

  22. SARS-CoV-2 began spreading in December 2019 and has since become a pandemic that has impacted many aspects of human society. Several issues concerning the origin, time of introduction to humans, evolutionary p...

    Authors: Shu-Miaw Chaw, Jui-Hung Tai, Shi-Lun Chen, Chia-Hung Hsieh, Sui-Yuan Chang, Shiou-Hwei Yeh, Wei-Shiung Yang, Pei-Jer Chen and Hurng-Yi Wang
    Citation: Journal of Biomedical Science 2020 27:73
  23. Alveologenesis is the final stage of lung development to form air-exchanging units between alveoli and blood vessels. Genetic susceptibility or hyperoxic stress to perturb this complicated process can cause ab...

    Authors: Yen-Ting Lai, Hsu-Wen Chao, Alan Chuan-Ying Lai, Shu-Hui Lin, Ya-Jen Chang and Yi-Shuian Huang
    Citation: Journal of Biomedical Science 2020 27:52
  24. Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprun...

    Authors: Ambreen Asim, Ashok Kumar, Srinivasan Muthuswamy, Shalu Jain and Sarita Agarwal
    Citation: Journal of Biomedical Science 2015 22:41
  25. Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of ...

    Authors: Yah-Huei Wu-Chou, Tzu-Chao Hung, Yin-Ting Lin, Hsing-Wen Cheng, Ju-Li Lin, Chih-Hung Lin, Chung-Chih Yu, Kuo-Ting Chen, Tu-Hsueh Yeh and Yu-Ray Chen
    Citation: Journal of Biomedical Science 2018 25:72
  26. Exposure to protein allergen epicutaneously, inducing a Th2-dominant immune response, sensitizes the host to the development of atopic disease. Antigen-driven bystander effect demonstrates that polarized T cel...

    Authors: Li-Fang Wang, Jau-Shiuh Chen, Chih-Jung Hsu, Ching-Yi Liu, Jhang-Sian Yu and Shi-Chuen Miaw
    Citation: Journal of Biomedical Science 2009 16:28
  27. Cre/lox P-mediated genetic modification is the most widely used conditional genetic approach used in the mouse. Engineered Cre and the mutated ligand-binding domain of estrogen receptor fusion recombinase (CreERT

    Authors: Chih-Chia Liang, Li-Ru You, Junn-Liang Chang, Ting-Fen Tsai and Chun-Ming Chen
    Citation: Journal of Biomedical Science 2009 16:2
  28. Methionine, an essential amino acid, is required for protein synthesis and normal cell metabolism. The transmethylation pathway and methionine salvage pathway (MTA cycle) are two major pathways regulating meth...

    Authors: He-Yen Chou, Yu-Hung Lin, Guan-Lin Shiu, Hsiang-Yu Tang, Mei-Ling Cheng, Ming-Shi Shiao and Li-Mei Pai
    Citation: Journal of Biomedical Science 2014 21:64
  29. β-Lapachone has antitumor and wound healing-promoting activities. To address the potential influences of various chemicals on heart development of zebrafish embryos, we previously treated zebrafish embryos wit...

    Authors: Yi-Ting Wu, Che Yi Lin, Ming-Yuan Tsai, Yi-Hua Chen, Yu-Fen Lu, Chang-Jen Huang, Chao-Min Cheng and Sheng-Ping L Hwang
    Citation: Journal of Biomedical Science 2011 18:70
  30. The application of a subset of single nucleotide polymorphisms, the tagSNPs, can be useful in capturing untyped SNPs information in a genomic region. TagSNP transferability from the HapMap dataset to admixed p...

    Authors: Tulio C Lins, Breno S Abreu and Rinaldo W Pereira
    Citation: Journal of Biomedical Science 2009 16:73
  31. The Mexican axolotl, Ambystoma mexicanum, carries the naturally-occurring recessive mutant gene 'c' that results in a failure of homozygous (c/c) embryos to form hearts that beat because of an absence of organize...

    Authors: Chi Zhang, Pingping Jia, Xupei Huang, Gian Franco Sferrazza, Gagani Athauda, Mohan P Achary, Jikui Wang, Sharon L Lemanski, Dipak K Dube and Larry F Lemanski
    Citation: Journal of Biomedical Science 2009 16:81
  32. CDGSH iron-sulfur domain-containing protein 2 (CISD2), a pro-longevity gene, mediates healthspan in mammals. CISD2 is down-regulated during aging. Furthermore, a persistently high level of CISD2 promotes longe...

    Authors: Zhao-Qing Shen, Cheng-Yen Chang, Chi-Hsiao Yeh, Chung-Kuang Lu, Hao-Chih Hung, Tai-Wen Wang, Kuan-Sheng Wu, Chien-Yi Tung and Ting-Fen Tsai
    Citation: Journal of Biomedical Science 2024 31:15
  33. Highly pathogenic influenza viruses cause high levels of morbidity, including excessive infiltration of leukocytes into the lungs, high viral loads and a cytokine storm. However, the details of how these patho...

    Authors: Sue-Jane Lin, Ming Lo, Rei-Lin Kuo, Shin-Ru Shih, David M Ojcius, Jean Lu, Chien-Kuo Lee, Hui-Chen Chen, Meei Yun Lin, Chuen-Miin Leu, Chia-Ni Lin and Ching-Hwa Tsai
    Citation: Journal of Biomedical Science 2014 21:99
  34. Extracellular communication, in other words, crosstalk between cells, has a pivotal role in the survival of an organism. This communication occurs by different methods, one of which is extracellular vesicles. ...

    Authors: Howida M. Nail, Chien-Chih Chiu, Chung-Hang Leung, Mahmoud M. M. Ahmed and Hui-Min David Wang
    Citation: Journal of Biomedical Science 2023 30:69
  35. The coronavirus disease 2019 (COVID-19) pandemic is an exceptional public health crisis that demands the timely creation of new therapeutics and viral detection. Owing to their high specificity and reliability...

    Authors: Yu-Chyi Hwang, Ruei-Min Lu, Shih-Chieh Su, Pao-Yin Chiang, Shih-Han Ko, Feng-Yi Ke, Kang-Hao Liang, Tzung-Yang Hsieh and Han-Chung Wu
    Citation: Journal of Biomedical Science 2022 29:1
  36. Heterozygous pathogenic variants in STUB1 are implicated in autosomal dominant spinocerebellar ataxia type 48 (SCA48), which is a rare familial ataxia disorder. We investigated the clinical, genetic and functiona...

    Authors: Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng and Chin-Hsien Lin
    Citation: Journal of Biomedical Science 2021 28:65
  37. The NLRP3 inflammasome is an intracellular sensor and an essential component of the innate immune system involved in danger recognition. An important hallmark of inflammasome activation is the formation of a s...

    Authors: Valentina Arrè, Rosanna Scialpi, Matteo Centonze, Gianluigi Giannelli, Maria Principia Scavo and Roberto Negro
    Citation: Journal of Biomedical Science 2023 30:90
  38. Type I Bartter syndrome is a recessive human nephropathy caused by loss-of-function mutations in the SLC12A1 gene coding for the Na+-K+-2Cl cotransporter NKCC2. We recently established the mutant mouse line Slc1...

    Authors: Elisabeth Kemter, Birgit Rathkolb, Lore Becker, Ines Bolle, Dirk H Busch, Claudia Dalke, Ralf Elvert, Jack Favor, Jochen Graw, Wolfgang Hans, Boris Ivandic, Svetoslav Kalaydjiev, Thomas Klopstock, Ildikó Rácz, Jan Rozman, Anja Schrewe…
    Citation: Journal of Biomedical Science 2014 21:68
  39. The Taiwan Human Disease iPSC Service Consortium was established to accelerate Taiwan’s growing stem cell research initiatives and provide a platform for researchers interested in utilizing induced pluripotent...

    Authors: Ching-Ying Huang, Ling-Hui Li, Wan-Tseng Hsu, Yu-Che Cheng, Martin W. Nicholson, Chun-Lin Liu, Chien-Yu Ting, Hui-Wen Ko, Shih-Han Syu, Cheng-Hao Wen, Zhuge Yan, Hsiang-Po Huang, Hong-Lin Su, Po-Min Chiang, Chia-Ning Shen, Hsin-Fu Chen…
    Citation: Journal of Biomedical Science 2020 27:92

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