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Publications by D. C. Jean

Pathogenic Mutation of Spastin Has Gain-Of-Function Effects on Microtubule Dynamics

Journal of Neuroscience

English

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Modulation of Host Microtubule Dynamics by Pathogenic Bacteria

Biomolecular Concepts

Molecular Neuroscience

Molecular Biology

English

Comparative Gain-Of-Function Effects of the KCNMA1-N999S Mutation on Human BK Channel Properties

Journal of Neurophysiology

English

Haematological Characterisation of Mice With Piezo1 Gain-Of-Function Mutation

Biophysical Journal

English

Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency

Journal of Experimental Medicine

English

A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits

Neurology: Genetics

English

Gain-Of-Function Mutation in Gli3 Causes Ventricular Septal Defects

English

Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia

Nature Medicine

Molecular Biology

English

Gain-Of-Function Mutation S422L in the KCNJ8-encoded Cardiac KATP Channel Kir6.1 as a Pathogenic Substrate for J-Wave Syndromes

Cardiovascular Medicine

English

A Mutation in the -Subunit of ENaC Identified in a Patient With Cystic Fibrosis-Like Symptoms Has a Gain-Of-Function Effect

American Journal of Physiology - Lung Cellular and Molecular Physiology

Respiratory Medicine

English