{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T13:04:37Z","timestamp":1779887077909,"version":"3.53.1"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T00:00:00Z","timestamp":1658448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin Exp Pharma Physio"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Upshaw\u2010Schulman syndrome (USS)\u2014rare autosomal recessive disease that affects &lt;1\/1 000 000 individuals. It is characterized by the massive formation of platelet thrombi in the microcirculation accompanied by haemolytic anaemia, thrombocytopenia and clinical and laboratory signs of renal and neurological failure. USS is caused by mutations in the <jats:italic>ADAMTS13<\/jats:italic> gene. Mutations in the <jats:italic>ADAM metallopeptidase<\/jats:italic> <jats:italic>with thrombospondin type 1 motif 13<\/jats:italic>\u00a0 (<jats:italic>ADAMTS13<\/jats:italic>) gene can lead to disruption of secretion of this enzyme, or to decrease of enzyme proteinase activity without effect on ADAMTS13 secretion. The aim of this work is to describe a clinical case of USS caused by a new missense mutation in the <jats:italic>ADAMTS13<\/jats:italic> gene. The diagnosis of thrombotic thrombocytopenic purpura was based on clinical signs and confirmed if plasma ADAMTS13 activity was &lt;10%. <jats:italic>ADAMTS13<\/jats:italic> gene sequencing was performed by the Sanger method using oligonucleotide primers of our own design. We found a new, undescribed mutation p.Trp387Ser in a TrpXXTrp motif. Previously, a pathogenic variation disrupting the 387TrpSerSerTrp390 motif of the ADAMTS13 protein was detected only once. Clinical picture of a patient with the combination of the p.Trp387Ser and p.Arg1060Trp variations is quite similar to that of the homozygous state of p.Arg1060Trp variant.<\/jats:p>","DOI":"10.1111\/1440-1681.13697","type":"journal-article","created":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T08:04:28Z","timestamp":1656403468000},"page":"1150-1155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["New missense mutation p.<scp>Trp387Ser<\/scp> affecting the functionally important <scp>TrpXXTrp<\/scp> motif in the <scp>TSR1<\/scp> repeat of <scp>ADAMTS13<\/scp> metalloproteinase: Case report"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8964-220X","authenticated-orcid":false,"given":"Julia","family":"Poznyakova","sequence":"first","affiliation":[{"name":"Laboratory of Genetic engineering National Medical Research Center for Hematology Ministry of Health  Moscow 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