Publications and ressources

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

Isabelle PERRAULT

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Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?

Marina Cavazzana, Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Isabelle André

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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Sven KRACKER, Anne DURANDY

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Kremen1 and Dickkopf1 control cell survival in a Wnt-independent manner.

Frédéric Causeret, Alessandra Pierani

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Spontaneous and electric field-controlled front-rear polarization of human keratinocytes.

Matias Simons

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Migration Speed of Cajal-Retzius Cells Modulated by Vesicular Trafficking Controls the Size of Higher-Order Cortical Areas.

Alessandra Pierani, Lisa Vigier, Frédéric Causeret

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Neuronal fate specification by the Dbx1 transcription factor is linked to the evolutionary acquisition of a novel functional domain.

Alessandra Pierani, Frédéric Causeret

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Sophie Saunier

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Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.

Laurent Abel

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Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study.

Laurent Abel

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A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy.

Alexandre Alcaïs

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Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Michel Polak, Jacques Beltrand

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KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.

Alain Hovnanian

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A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells.

Sylvain Ernest

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Identification of Symptomatic Fetuses Infected with Cytomegalovirus Using Amniotic Fluid Peptide Biomarkers.

Yves Ville

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