Zobrazeno 1 - 10
of 1 301
pro vyhledávání: '"Single nucleotide variants"'
Autor:
Zainul A. Khan, Susheel Kumar Sharma, Nitika Gupta, Damini Diksha, Pooja Thapa, Mailem Yazing Shimray, Malyaj R. Prajapati, Sajad U. Nabi, Santosh Watpade, Mahendra K. Verma, Virendra K. Baranwal
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-15 (2024)
Abstract Background The choice of de novo assembler for high-throughput sequencing (HTS) data remains a pivotal factor in the HTS-based discovery of viral pathogens. This study assessed de novo assemblers, namely Trinity, SPAdes, and MEGAHIT for HTS
Externí odkaz:
https://doaj.org/article/c073f36c4ba74ae6a31819255e31c69c
Autor:
Rahaf M. Ahmad, Bassam R. Ali, Fatma Al-Jasmi, Noura Al Dhaheri, Saeed Al Turki, Praseetha Kizhakkedath, Mohd Saberi Mohamad
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-16 (2024)
Abstract Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in on
Externí odkaz:
https://doaj.org/article/0878bc18cc3d4afc895986a1c9f761b1
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-21 (2024)
Abstract Background Genome-wide association studies (GWAS) have revealed a multitude of candidate genetic variants affecting the risk of developing complex traits and diseases. However, the highlighted regions are typically in the non-coding genome,
Externí odkaz:
https://doaj.org/article/099398ad9e2c40298c05b0f4e4c6d0c5
Autor:
E. A. Krieger, O. V. Samodova, O. A. Svitich, R. V. Samoilikov, E. A. Meremianina, L. L. Shagrov, Yu. M. Zvezdina, A. V. Kudryavtsev
Publikováno v:
Журнал инфектологии, Vol 16, Iss 2, Pp 63-74 (2024)
Introduction. Polymorphic variants of interferon receptor genes determine cell sensitivity to interferons and the antiviral immune response.The study aimed to assess the impact of polymorphic variants of interferon receptor genes on humoral immunity
Externí odkaz:
https://doaj.org/article/3429f7c7de434046ace2c112ef630049
Autor:
Parnika S. Kadam, Zijian Yang, Youtao Lu, Hua Zhu, Yasemin Atiyas, Nishal Shah, Stephen Fisher, Erik Nordgren, Junhyong Kim, David Issadore, James Eberwine
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-24 (2024)
Abstract Background Mitochondrial (mt) heteroplasmy can cause adverse biological consequences when deleterious mtDNA mutations accumulate disrupting “normal” mt-driven processes and cellular functions. To investigate the heteroplasmy of such mtDN
Externí odkaz:
https://doaj.org/article/b5f7b29c50464504aa8a0218d124557b
Autor:
Jesús Alonso Gándara-Mireles, Ismael Lares-Asseff, Elio Aarón Reyes Espinoza, Verónica Loera Castañeda, Lourdes Patricia Córdova Hurtado, Flor de María Reyes Gutiérrez, Antonio Sandoval-Cabrera, Ignacio Villanueva Fierro, Julio Cesar Grijalva Ávila, Claudia Castro Arreola, Leslie Patrón-Romero, Horacio Almanza Reyes
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
IntroductionL-Asparaginase (L-Asp) is a key drug in the treatment of acute lymphoblastic leukemia (ALL); however, it is commonly associated with the occurrence of adverse events (AE). Risk factors such as age, sex, nutritional status, and some single
Externí odkaz:
https://doaj.org/article/efdad68448de442eb3d12b3bbfe44f4e
Autor:
Elizabeth Reyes-Reyes, José Alfredo Herrera-Isidrón, Elizabeth Cuétara-Lugo, Zhiv Shkedy, Dirk Valkenborg, Claudina Angela Pérez-Novo, Gisselle Fernández-Peña, Idania González-Pérez, Miguel David Fernández-Pérez, Wim Vanden-Berghe, Idania Rodeiro-Guerra
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
IntroductionThe Cuban population is genetically diverse, and information on the prevalence of genetic variants is still limited. As complex admixture processes have occurred, we hypothesized that the frequency of pharmacogenetic variants and drug res
Externí odkaz:
https://doaj.org/article/726ffc86e83b4de1b675831f902f0952
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract RNA modifications affect fundamental biological processes and diseases and are a research hotspot. Several micro-RNAs (miRNAs) exhibit genetic variant-targeted RNA modifications that can greatly alter their biofunctions and influence their e
Externí odkaz:
https://doaj.org/article/fa5a3782ac254731b42fb3533d44b8f7
Autor:
A.O. Nikulina
Publikováno v:
Medičnì Perspektivi, Vol 29, Iss 1, Pp 108-114 (2024)
Obesity-induced dysregulation of hypothalamic neurons is not completely eliminated by restoring body weight, therefore the most urgent task of modern precision medicine is to predict the trajectory of development of metabolic disorders associated wit
Externí odkaz:
https://doaj.org/article/b55b726e5ebf4e0cb89b921a93f0d45e
Autor:
Yujie Li, Yanting Chang, Yan Yan, Xiaoya Ma, Wenqian Zhou, Huan Zhang, Jinping Guo, Jie Wei, Tianbo Jin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract The gradual evolution of pharmacogenomics has shed light on the genetic basis for inter-individual drug response variations across diverse populations. This study aimed to identify pharmacogenomic variants that differ in Zhuang population co
Externí odkaz:
https://doaj.org/article/7c9abcc609ec44778c221b1dcd21c968