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10 Results Found

  • Review
  • Open Access
12 Citations
4,168 Views
12 Pages

24 September 2023

Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare medical emergency for which a correct and early diagnosis is essential. As a severe deficiency in A Disintegrin And Metalloproteinase with ThromboSpondin type 1 repeats, member 13 (...

  • Article
  • Open Access
1 Citations
2,954 Views
16 Pages

Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy

  • Zsuzsanna Elek,
  • Eszter Losoncz,
  • Katalin Maricza,
  • Zoltán Fülep,
  • Zsófia Bánlaki,
  • Réka Kovács-Nagy,
  • Gergely Keszler and
  • Zsolt Rónai

28 February 2023

COVID-19 associated coagulopathy (CAC), characterized by endothelial dysfunction and hypercoagulability, evokes pulmonary immunothrombosis in advanced COVID-19 cases. Elevated von Willebrand factor (vWF) levels and reduced activities of the ADAMTS13...

  • Review
  • Open Access
6 Citations
4,650 Views
16 Pages

10 March 2025

Autoantibodies to ADAMTS13 are at the center of pathology of the immune-mediated thrombotic thrombocytopenic purpura. These autoantibodies can be either inhibitory (enzymatic function) or non-inhibitory, resulting in protein depletion. Under normal p...

  • Article
  • Open Access
23 Citations
6,939 Views
18 Pages

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

  • Ryan Hunt,
  • Gaya Hettiarachchi,
  • Upendra Katneni,
  • Nancy Hernandez,
  • David Holcomb,
  • Jacob Kames,
  • Redab Alnifaidy,
  • Brian Lin,
  • Nobuko Hamasaki-Katagiri and
  • Chava Kimchi-Sarfaty
  • + 11 authors

15 November 2019

Synonymous variants within coding regions may influence protein expression and function. We have previously reported increased protein expression levels ex vivo (~120% in comparison to wild-type) from a synonymous polymorphism variant, c.354G>A [p...

  • Review
  • Open Access
6 Citations
3,548 Views
11 Pages

Thrombotic thrombocytopenic purpura (TTP) is an uncommon, but potentially disabling or even deadly, thrombotic microangiopathy with a well-studied mechanism of ADAMTS13 deficiency or dysfunction. While established treatments are largely effective, th...

  • Article
  • Open Access
1 Citations
2,726 Views
16 Pages

Residues R1075, D1090, R1095, and C1130 Are Critical in ADAMTS13 TSP8-Spacer Interaction Predicted by Molecular Dynamics Simulation

  • Zhiwei Wu,
  • Junxian Yang,
  • Xubin Xie,
  • Guangjian Liu,
  • Ying Fang,
  • Jianhua Wu and
  • Jiangguo Lin

12 December 2021

ADAMTS13 (A Disintegrin and Metalloprotease with Thrombospondin type 1 repeats, member 13) cleaves von Willebrand Factor (VWF) multimers to limit the prothrombotic function of VWF. The deficiency of ADAMTS13 causes a lethal thrombotic microvascular d...

  • Article
  • Open Access
18 Citations
3,824 Views
14 Pages

Tissular hypoxia stimulates vascular morphogenesis. Vascular morphogenesis shapes the cell and, consecutively, tissue growth. The development of new blood vessels is intermediated substantially through the tyrosine kinase pathway. There are several t...

  • Feature Paper
  • Review
  • Open Access
52 Citations
10,575 Views
18 Pages

Shear Stress-Induced Activation of von Willebrand Factor and Cardiovascular Pathology

  • Sergey Okhota,
  • Ivan Melnikov,
  • Yuliya Avtaeva,
  • Sergey Kozlov and
  • Zufar Gabbasov

21 October 2020

The von Willebrand factor (vWF) is a plasma protein that mediates platelet adhesion and leukocyte recruitment to vascular injury sites and carries coagulation factor VIII, a building block of the intrinsic pathway of coagulation. The presence of ultr...

  • Article
  • Open Access
18 Citations
3,091 Views
16 Pages

Genome-Wide Association Study Reveals Novel Loci Associated with Body Conformation Traits in Qinchuan Cattle

  • Hengwei Yu,
  • Shengchen Yu,
  • Juntao Guo,
  • Gong Cheng,
  • Chugang Mei and
  • Linsen Zan

23 November 2023

A genome-wide association study (GWAS) is an effective tool for identifying the dominant genes of complex economic traits in livestock by statistical analysis of genotype data and measured phenotype data. In this study, we rigorously measured 14 body...

  • Article
  • Open Access
205 Views
17 Pages

10 March 2026

In this study, we investigated the genomic basis of key body measurement and weight traits in Iraqi Awassi sheep using a multi-locus genome-wide association approach. A total of 315 yearling animals were phenotyped for body length, chest depth, heart...