Skip to main content

Search

Show all results for

Home

Person

Shixu Yan

This person is no longer with EPFL

About
Privacy
Disclaimer

Copyright © 2025 EPFL, all rights reserved

Graph Chatbot

About this result

This page is automatically generated and may contain information that is not correct, complete, up-to-date, or relevant to your search query. The same applies to every other page on this website. Please make sure to verify the information with EPFL's official sources.

Related publications (3)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

In-Depth Analysis of Mutations in Hyaline Fibromatosis Syndrome (HFS)

EPFL2014

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis

Françoise Gisou van der Goot Grunberg, Matteo Dal Peraro, Laurence Gouzi Abrami, Luciano Andres Abriata, Béatrice Kunz, Shixu Yan

Capillary morphogenesis gene 2 (CMG2/ANTXR2) is a cell surface receptor for both collagen VI and anthrax toxin. Biallelic loss-of-function mutations in CMG2 lead to a severe condition, hyaline fibromatosis syndrome (HFS). We have here dissected a network o ...

Cell Press - Elsevier2020

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Françoise Gisou van der Goot Grunberg, Matteo Dal Peraro, Thomas Lemmin, Suzanne Salvi, Shixu Yan

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. Sixty percent of patients carry frameshift mutations at a mutational hotspot in exon 13. We show in patient ...

Wiley-Blackwell2013