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Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies

Autor: A K Lawrence, D S Regier, P Kamalapathy, Charles J. Macri, J S Fonda Allen, E I Rubio

Publikováno v: Journal of Neonatal-Perinatal Medicine. :1-6

We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester ul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3784be6f953165f53aedf5be1fbb3a5a
https://doi.org/10.3233/npm-181854

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Phosphorylation of p22phox is mediated by phospholipase D-dependent and -independent mechanisms. Correlation of NADPH oxidase activity and p22phox phosphorylation

Autor: D S, Regier, D G, Greene, S, Sergeant, A J, Jesaitis, L C, McPhail

Publikováno v: The Journal of biological chemistry. 275(37)

Human neutrophils participate in the host innate immune response, partly mediated by the multicomponent superoxide-generating enzyme NADPH oxidase. A correlation between phosphorylation of cytosolic NADPH oxidase components and enzyme activation has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::85ea804bcc659fbbac14915c44479171
https://pubmed.ncbi.nlm.nih.gov/10893420

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