Arthritis &Rheumatology, Accepted Article.Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong +9 more
wiley +1 more source
Integration of SNP genotyping and 16S rRNA amplicon sequencing to identify heritable gut microbes in chickens. [PDF]
STAR Protoc, 2023 Zhang J, Feng Y, Hu Y.
europepmc +1 more source
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort [PDF]
, 2012 Armand Valsesia +9 more
openalex +1 more source
British Journal of Clinical Pharmacology, EarlyView.While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis +5 more
wiley +1 more source
Elucidating the Genetic Relationships on the Original Old Sicilian Triticum Spp. Collection by SNP Genotyping. [PDF]
Int J Mol Sci, 2022 Fiore MC +9 more
europepmc +1 more source
Pharmacogenetic CYP2B6 variants affect steroid hormone metabolism in human breast cancer cells
British Journal of Clinical Pharmacology, EarlyView.Common genetic CYP2B6 variants correlate with adverse breast cancer outcome. The oestrogen metabolites estriol and 16‐epiestriol, which are formed downstream of CYP2B6‐catalysed 16α/β‐hydroxytestosterone, may be linked to elevated breast cancer risk and might increase due to the demonstrated CYP2B6 variants‐related metabolic shifts.
Marco Hoffmann +5 more
wiley +1 more source
Modified "Allele-Specific qPCR" Method for SNP Genotyping Based on FRET. [PDF]
Front Plant Sci, 2021 Kalendar R +12 more
europepmc +1 more source
Employing genome-wide SNP discovery and genotyping strategy to extrapolate the natural allelic diversity and domestication patterns in chickpea [PDF]
, 2015 Alice Kujur +14 more
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Predicting cervical cancer DNA methylation from genetic data using multivariate CMMP
Canadian Journal of Statistics, EarlyView.Abstract Epigenetic modifications link the environment to gene expression and play a crucial role in tumour development. DNA methylation, in particular, is gaining attention in cancer research, including cervical cancer, the focus of this study.
Hang Zhang +5 more
wiley +1 more source
Development and Application of a Target Capture Sequencing SNP-Genotyping Platform in Rice. [PDF]
Genes (Basel), 2022 Lee C +14 more
europepmc +1 more source