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Julie Deuquet Ariosa

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Related publications (4)

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Molecular Mechanisms Underlying Hyaline Fibromatosis Syndrome

Julie Deuquet Ariosa

Hyaline Fibromatosis Syndrome (HFS) is a rare inherited disease that is characterized by an accumulation of an unidentified hyaline material, largely affecting connective tissues. Patients afflicted with HFS present a wide range of clinical symptoms such a ...

EPFL2011

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Alessandra Piersigilli, Béatrice Kunz, Jérôme Bürgi, Julie Deuquet Ariosa

Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and ...

Springer Nature2017

The dark sides of capillary morphogenesis gene 2

Françoise Gisou van der Goot Grunberg, Julie Deuquet Ariosa

Capillary morphogenesis gene 2 (CMG2) is a type I membrane protein involved in the homeostasis of the extracellular matrix. While it shares interesting similarities with integrins, its exact molecular role is unknown. The interest and knowledge about CMG2 ...

2012

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Françoise Gisou van der Goot Grunberg, Laurence Gouzi Abrami, Nicolas Jean Philippe Guex, Julie Deuquet Ariosa

Hyaline Fibromatosis Syndrome (HIS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about ...

Wiley Open Access2011