Literature DB >> 28866379

Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease.

Upendra K Katneni1, Ryan Hunt1, Gaya K Hettiarachchi1, Nobuko Hamasaki-Katagiri1, Chava Kimchi-Sarfaty2, Juan C Ibla3.   

Abstract

Entities:  

Keywords:  ADAMTS13 mutations; Congenital heart disease; Single nucleotide variants; Single ventricle; Thrombosis

Mesh：

Substances：

Year:  2017        PMID： 28866379     DOI： 10.1016/j.thromres.2017.08.016

Source DB:  PubMed          Journal:  Thromb Res        ISSN： 0049-3848            Impact factor:   3.944


× No keyword cloud information.
  2 in total

1.  New approaches to predict the effect of co-occurring variants on protein characteristics.

Authors:  David Holcomb; Nobuko Hamasaki-Katagiri; Kyle Laurie; Upendra Katneni; Jacob Kames; Aikaterini Alexaki; Haim Bar; Chava Kimchi-Sarfaty
Journal:  Am J Hum Genet       Date:  2021-07-12       Impact factor: 11.025

2.  A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity.

Authors:  Ryan Hunt; Gaya Hettiarachchi; Upendra Katneni; Nancy Hernandez; David Holcomb; Jacob Kames; Redab Alnifaidy; Brian Lin; Nobuko Hamasaki-Katagiri; Aaron Wesley; Tal Kafri; Christina Morris; Laura Bouché; Maria Panico; Tal Schiller; Juan Ibla; Haim Bar; Amra Ismail; Howard Morris; Anton Komar; Chava Kimchi-Sarfaty
Journal:  Int J Mol Sci       Date:  2019-11-15       Impact factor: 5.923
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.