Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz +5 more
wiley +1 more source
XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphisms in cervical cancer risk [PDF]
Human Papillomavirus (HPV) is the main cause of cervical cancer and its precursor lesions. Transformation may be induced by several mechanisms, including oncogene activation and genome instability.
A Roszak +34 more
core +2 more sources
An intracellular transporter mitigates the CO2‐induced decline in iron content in Arabidopsis shoots
This study identifies a gene encoding a transmembrane protein, MIC, which contributes to the reduction of shoot Fe content observed in plants under elevated CO2. MIC is a putative Fe transporter localized to the Golgi and endosomal compartments. Its post‐translational regulation in roots may represent a potential target for improving plant nutrition ...
Timothy Mozzanino +7 more
wiley +1 more source
Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population [PDF]
Objective To investigate the association between genetic polymorphisms in candidate genes or candidate regions and the development of endometriosis in Brazilian women.
Paula Coelho Silva Viana +8 more
doaj +1 more source
A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity [PDF]
Rheumatoid arthritis (RA) is a chronic inflammatory disease with a heritability of 60%. Genetic contributions to RA are made by multiple genes, but only a few gene associations have yet been confirmed.
Alfredsson, L +8 more
core +2 more sources
In patients treated with atezolizumab as a part of the MyPathway (NCT02091141) trial, pre‐treatment ctDNA tumor fraction at high levels was associated with poor outcomes (radiographic response, progression‐free survival, and overall survival) but better sensitivity for blood tumor mutational burden (bTMB).
Charles Swanton +17 more
wiley +1 more source
Background The aim of this study was to investigate the correlation between MDM2 T309G single nucleotide polymorphism (SNP) and esophageal cancer susceptibility through pooling the open published data.
Lele Yin, Guo Shen, Bin Zhu
doaj +1 more source
Automation in genotyping of single nucleotide polymorphisms [PDF]
Automation for genotyping of single nucleotide polymorphisms (SNPs) can be split into the automation of the sample preparation and the automation of the analysis technology. SNP genotyping methods are reviewed and solutions for their automation discussed. A panacea for SNP genotyping does not exist.
openaire +3 more sources
A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. [PDF]
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy.
Baker, Dewleen G +15 more
core +2 more sources
Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma
GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski +19 more
wiley +1 more source

