Zobrazeno 1 - 10
of 1 097
pro vyhledávání: '"Single Nucleotide Variant"'
Autor:
Ismael Henarejos-Castillo, Francisco José Sanz, Cristina Solana-Manrique, Patricia Sebastian-Leon, Ignacio Medina, José Remohi, Nuria Paricio, Patricia Diaz-Gimeno
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-13 (2024)
Abstract Background Ovarian failure (OF) is a multifactorial, complex disease presented by up to 1% of women under 40 years of age. Despite 90% of patients being diagnosed with idiopathic OF, the underlying molecular mechanisms remain unknown, making
Externí odkaz:
https://doaj.org/article/e210381c7f794829b1ba8195aae4a769
Autor:
Shivesh Ghura, Noah R. Beratan, Xinglong Shi, Elena Alvarez-Periel, Sarah E. Bond Newton, Cagla Akay-Espinoza, Kelly L. Jordan-Sciutto
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Common single-nucleotide variants (SNVs) of eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) slightly increase the risk of disorders in the periphery and the central nervous system. EIF2AK3 encodes protein kinase RNA-like
Externí odkaz:
https://doaj.org/article/cd849f67507748ea9342ece45a821b3e
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The epidemic and outbreaks of influenza B Victoria lineage (Bv) during 2019–2022 led to an analysis of genetic, epitopes, charged amino acids and Bv outbreaks. Based on the National Influenza Surveillance Network (NISN), the Bv 72 strains
Externí odkaz:
https://doaj.org/article/44ef996b5c9f4d41baee71df2df7205b
Genotyping single point mutations in rd1 and rd8 mice using melting curve analysis of qPCR fragments
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract PCR is tolerant to single nucleotide mismatches. Therefore, genotyping of point mutations by PCR requires special conditions for the amplification of allele-specific PCR fragments. MS-PCR (mutagenically separated PCR) is an improved version
Externí odkaz:
https://doaj.org/article/7f5088d57eff44bcbd82ac0d94c6c0fa
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Tuberculosis (TB) represents a major global health challenge. Drug resistance in Mycobacterium tuberculosis (MTB) poses a substantial obstacle to effective TB treatment. Identifying genomic mutations in MTB isolates holds promise
Externí odkaz:
https://doaj.org/article/e754e48d1ad648b1b97f43a78c290f16
Autor:
Mingtao Huang, Qinxin Zhang, Jiao Jiao, Jianquan Shi, Yiyun Xu, Cuiping Zhang, Ran Zhou, Wenwen Liu, Yixuan Liang, Hao Chen, Yan Wang, Zhengfeng Xu, Ping Hu
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-13 (2024)
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity. Genetic diagnosis of FSHD remains a challenge because it
Externí odkaz:
https://doaj.org/article/61fd289ee27f406f9a653a78627a90c9
Autor:
Kitamura, Hiroshi a, Kukimoto, Iwao b, Yajima, Misako c, Ikuta, Kazufumi a, d, Sasaki, Kenroh e, Kanda, Teru a, ⁎
Publikováno v:
In Virology February 2025 603
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Background Next-generation sequencing (NGS) technologies offer fast and inexpensive identification of DNA sequences. Somatic sequencing is among the primary applications of NGS, where acquired (non-inherited) variants are based on comparing
Externí odkaz:
https://doaj.org/article/f30a89f1207248d79d04c81e0f16613f
Publikováno v:
Journal of Ovarian Research, Vol 16, Iss 1, Pp 1-6 (2023)
Abstract Background Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficie
Externí odkaz:
https://doaj.org/article/24e79db627e3475196c85b75d7c82313
Autor:
Daiane Keller Cecconello, Klerize Anecely de Souza Silva, Evelin Cristine Mendonça de Senna, Ciliana Rechenmacher, Liane Esteves Daudt, Mariana Bohns Michalowski
Publikováno v:
Pharmaceutics, Vol 16, Iss 9, p 1134 (2024)
Acute lymphoblastic leukemia represents the most prevalent childhood cancer. Modern chemotherapy has significantly improved outcomes, achieving EFS rates of 80% and OS rates nearing 90% in developed nations, while in developing regions, rates remain
Externí odkaz:
https://doaj.org/article/301e9039fbf3428ba6f528d4f7a217e7