Zobrazeno 1 - 10
of 1 455
pro vyhledávání: '"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
Autor:
Patrick Lypaczewski, Denise Chac, Chelsea N. Dunmire, Kristine M. Tandoc, Fahima Chowdhury, Ashraful I. Khan, Taufiqur R. Bhuiyan, Jason B. Harris, Regina C. LaRocque, Stephen B. Calderwood, Edward T. Ryan, Firdausi Qadri, B. Jesse Shapiro, Ana A. Weil
Publikováno v:
Microbiology Spectrum, Vol 12, Iss 8 (2024)
ABSTRACT Vibrio cholerae O1 causes the diarrheal disease cholera, and the small intestine is the site of active infection. During cholera, cholera toxin is secreted from V. cholerae and induces a massive fluid influx into the small intestine, which c
Externí odkaz:
https://doaj.org/article/99b2d2acaf2f4e868326c00551e9b2bd
Autor:
Luciano Gama da Silva Gomes, PhD, Álvaro Augusto Souza da Cruz, MD, PhD, Maria Borges Rabêlo de Santana, PhD, Gabriela Pimentel Pinheiro, PhD, Cinthia Vila Nova Santana, PhD, Carolina Barbosa Souza Santos, PhD, Meher Preethi Boorgula, MS, Monica Campbell, MS, Adelmir de Souza Machado, MD, PhD, Rafael Valente Veiga, PhD, Kathleen C. Barnes, PhD, Ryan dos Santos Costa, PhD, Camila Alexandrina Figueiredo, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100282- (2024)
Background: Asthma is a chronic inflammatory disease of the airways that is heterogeneous and multifactorial, making its accurate characterization a complex process. Therefore, identifying the genetic variations associated with asthma and discovering
Externí odkaz:
https://doaj.org/article/80f782c6ec9b42d0a7273d7d442aa0fe
Publikováno v:
In Trends in Analytical Chemistry November 2024 180