Results 141 to 150 of about 7,051 (240)

DPYD and UGT1A1 Genotype‐Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant‐Specific Impact on Treatment Intensity and Toxicity

International Journal of Cancer, EarlyView.
Pre‐treatment DPYD and UGT1A1 genotyping is increasingly used to prevent fluoropyrimidine‐ and irinotecan‐related toxicity, but variant‐specific real‐world effects remain unclear. In an unselected cohort of cancer patients with actionable genotypes, genotype‐driven dosing improved safety while preserving treatment exposure in high‐risk DPYD c.1905+1G>A
Martina Gambron, Elena Peruzzi, Samantha Perfler, Marcella Montico, Riccardo Cecchin, Elena De Mattia, Michele Spina, Camilla Lisanti, Serena Corsetti, Luisa Foltran, Fabio Puglisi, Rossana Roncato, Erika Cecchin   +12 more
wiley   +1 more source

Optimising Genome-Wide Detection of Runs of Homozygosity: Impacts of Reference Genome Quality and Sequencing Parameters on Inbreeding Assessment. [PDF]

Mol Ecol Resour
Shi M, Li H, Shafer ABA, Lan T.
europepmc   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Long runs of homozygosity are reliable genomic markers of inbreeding depression. [PDF]

Trends Ecol Evol
Kyriazis CC, Robinson JA, Lohmueller KE.
europepmc   +1 more source

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Metrnβ drives sepsis immunosuppression via macrophage reprogramming: A novel prognostic biomarker and therapeutic target

Interdisciplinary Medicine, EarlyView.
Metrnβ serves as a novel prognostic biomarker for sepsis and that targeted blockade of the Metrnβ‐c‐Kit axis represents a promising therapeutic strategy for sepsis. Abstract Sepsis is a heterogeneous syndrome critically driven by immunosuppression, yet lacking personalized prognostic markers and therapeutic targets. Here, we provide evidence to support
Xiao Li, Ai Chen, Chen Zhang, Meihong Da, Yonghui Liu, Zhi He, Chenyan Yuan, Shuo Ma, Yuming Yao, Dawen Chen, Meiling Zhou, Zhixin Song, Wenjing Lu, Chun‐Kwok Wong, Guoqiu Wu, Xun Gao   +15 more
wiley   +1 more source

Genomic Characterization of Peruvian Creole Goats: Insights into Population Structure and Runs of Homozygosity. [PDF]

Animals (Basel)
Corredor FA, Godoy-Padilla D, Sessarego EA, Temoche-Socola V, Paredes Chocce ME, Escobar Robledo H, Ramírez Antaurco MF, Burgos-Paz W, Ruiz J, Cruz J, Mulim HA, Oliveira HR.   +11 more
europepmc   +1 more source

Development and Analytical Validation of a Laboratory‐Customized TaqMan‐MGB Probe Method for CYP2C19 Genotyping

Journal of Clinical Laboratory Analysis, EarlyView.
A laboratory‐customized, open‐sequence TaqMan‐MGB probe assay was developed for detecting CYP2C19*2 and CYP2C19*17 polymorphisms using dried blood spot‐derived DNA. The assay demonstrated allele‐specific discrimination, candidate LODs of 1.17 × 102 copies/μL for CYP2C19*2 and 0.94 × 103 copies/μL for CYP2C19*17, and repeatability with CVs below 10%. In
Yaqun Liu, Lianghui Chen, Xuanyi Zheng, Peikui Yang, Yicun Chen, Chengsong Xie, Zhenxia Zhang, Yuzhong Zheng   +7 more
wiley   +1 more source

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases. [PDF]

Genet Med Open
Sivakumaran TA, Azab B, Hershman E, Sivakumaran A, Friedman NR, Raz D, Neilson D, Grebe TA.   +7 more
europepmc   +1 more source

Exploring Runs of Homozygosity and Heterozygosity in Sheep Breeds Maintained in Poland. [PDF]

Genes (Basel)
Szmatola T, Ropka-Molik K, Jasielczuk I, Kawęcka A, Gurgul A.   +4 more
europepmc   +1 more source