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Julie Deuquet Ariosa

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Related publications (4)

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.

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

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

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

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, Julie Deuquet Ariosa, Nicolas Jean Philippe Guex, Suzanne Salvi

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

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