Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.
Boston, United States. In Transfusion, Jan 2016
RESULTS: Some major differences and alignment issues were found when attempting to convert the conventional cDNA to human reference genome sequences for the following genes: ABO, A4GALT, RHD, RHCE, FUT3, ACKR1 (previously DARC), ACHE, FUT2, CR1, GCNT2, and RHAG.
Cyclic AMP (cAMP) signaling in melanocytes and melanoma.
Madison, United States. In Arch Biochem Biophys, 2015
Some MC1R polymorphisms produce cAMP signaling impairment and pigmentary phenotypes such as the red head color and fair skin phenotype (RHC) that is usually associated with higher risk for melanoma development.
A novel RHCE*ce 48C, 733G allele with Nucleotide 941C in Exon 7 encodes an altered red blood cell e antigen.
New York City, United States. In Transfusion, 2011
Study identifies a novel allele, RHCE*ce 48C, 733G, 941C, 1006T which is predicted to encode 16Cys, 245Val, 314Ala, and 336CyS and was shown to encode c, V/VS, and an altered expression of e and hrB antigens.
Rockville, United States. In Unknown Journal, 0001
N-terminal pro-B-type natriuretic peptide (NT-proBNP) showed moderate correlation with right heart catheterization (RHC) hemodynamic measures and a great deal of variability between studies in its diagnostic accuracy and discrimination; however, one good-quality prospective cohort study suggested that biomarker testing with NT-proBNP might be useful in ruling out PAH in patients with symptoms suggestive of PAH who have elevated systolic pulmonary artery pressure (sPAP) by echocardiography.