Apte SS

No ORCID on file · 2 papers in corpus · active 2017-2020
2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Scientific reports ·doi:10.1038/s41598-020-66978-8

Weill-Marchesani syndrome (WMS) is a rare disorder displaying short stature, brachydactyly and joint stiffness, and ocular features including microspherophakia and ectopia lentis. Brachydactyly and joint stiffness appear less commonly in pa…

2017
Versican Proteolysis by ADAMTS Proteases and Its Influence on Sex Steroid Receptor Expression in Uterine Leiomyoma.
The Journal of clinical endocrinology and metabolism ·doi:10.1210/jc.2016-3527

ContextLeiomyomas have abundant extracellular matrix (ECM), with upregulation of versican, a large proteoglycan.ObjectiveWe investigated ADAMTS (a disintegrin-like and metalloprotease with thrombospondin type 1 motifs) protease-mediated ver…