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Shixu Yan

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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.

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

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

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 Mutations in Hyaline Fibromatosis Syndrome (HFS)

EPFL2014

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

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