Výsledky vyhledávání - "Matthew Caffet"

Akademický článek

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

Autor: Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li

Publikováno v: PLoS Genetics, Vol 18, Iss 4, p e1010192 (2022)

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a po

Externí odkaz: https://doaj.org/article/33be5d418ebc4c14bc28e34b680fc2b8

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A new enzymatic assay to quantify inorganic pyrophosphate in plasma

Autor: Stefan Lundkvist, Fatemeh Niaziorimi, Flora Szeri, Matthew Caffet, Sharon F. Terry, Gunnar Johansson, Robert S. Jansen, Koen van de Wetering

Publikováno v: Analytical and Bioanalytical Chemistry, pp. 1-12
Analytical and Bioanalytical Chemistry, 1-12
STARTPAGE=1;ENDPAGE=12;ISSN=1618-2642;TITLE=Analytical and Bioanalytical Chemistry

Inorganic pyrophosphate (PPi) is a crucial extracellular mineralization regulator. Low plasma PPi concentrations underlie the soft tissue calcification present in several rare hereditary mineralization disorders as well as in more common conditions l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1e0cd23dd73e7c04d8e361cdb6f11b
https://repository.ubn.ru.nl/handle/2066/285845

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Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

Autor: Jouni Uitto, Jonathan G. Schoenecker, J. Huang, Qiaoli Li, Tamara Wurst, Andrew Touati, Ellen Ryu, Sharon F. Terry, Paolo Fortina, Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Matthew Caffet, Jagmohan Singh, Luke Kowal, Adam E. Snook

Publikováno v: Genet Med

PURPOSE: Heritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in non-skeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients affl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b6df693aa78094a59cc91dd119f0b4
https://pubmed.ncbi.nlm.nih.gov/34906475

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Generation of highly potent DYRK1A-dependent inducers of human β-Cell replication via Multi-Dimensional compound optimization

Autor: Mark Smith, Justin P. Annes, Paul Allegretti, Benjamin Yeh, Matthew Caffet, Yassan Abdolazimi, Timothy M. Horton, Hannah P. Moeller, Guillermina Michel

Publikováno v: Bioorg Med Chem

Small molecule stimulation of β-cell regeneration has emerged as a promising therapeutic strategy for diabetes. Although chemical inhibition of dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) is sufficient to enhance β-cell r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c14bde7a6a312e8cc57343ff6fb1ca
https://pubmed.ncbi.nlm.nih.gov/31757680

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