J. Delaunay

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Juliette Albuisson, Swetha E. Murthy, Michael Bandell et al. · Nature Communications · 2013 · 374 citations · Full text

Signal Transduction, Molecular Physiology, Molecular Biology +7

Autoimmunity in Wiskott-Aldrich Syndrome: Risk Factors, Clinical Features, and Outcome in a Single-Center Cohort of 55 Patients

Sophie Dupuis‐Girod, Jacques Médioni, Élie Haddad et al. · PEDIATRICS · 2003 · 350 citations

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi et al. · Blood · 2013 · 316 citations

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz, Achille Iolascon, Fátima Verı́ssimo et al. · Nature Genetics · 2009 · 278 citations

Developmental Biology, Genetic Disorder, Genetics +6

Erythrocyte Glut1 Triggers Dehydroascorbic Acid Uptake in Mammals Unable to Synthesize Vitamin C

Amélie Montel‐Hagen, Sandrina Kinet, Nicolas Manel et al. · Cell · 2008 · 241 citations · Full text

Nutrient Physiology, Biochemistry, Mammals Unable +6