Publications by authors named "Isabelle Pirson"

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Synaptic Gpr85 Influences Cerebellar-Granule-Cell Electrical Properties and Light-Induced Behavior in Zebrafish.
Romain Darche-Gabinaud, Abeer Kaafarani, Marine Chazalon, Valérie Suain, Erika Hendrickx, Isabelle Pirson

J Neurosci· December 2025

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Proximity Interactome Analysis of Super Conserved Receptors Expressed in the Brain Identifies EPB41L2, SLC3A2, and LRBA as Main Partners.
Abeer Kaafarani, Romain Darche-Gabinaud, Xavier Bisteau, Virginie Imbault, Valérie Wittamer, Isabelle Pirson

Cells· November 2023

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The boundary problem: Defining and delineating the community in field trials with gene drive organisms.
Nienke de Graeff, Isabelle Pirson, Rieke van der Graaf, Annelien L Bredenoord, Karin R Jongsma

Bioethics· July 2023

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An exome-wide study of renal operational tolerance.
Annick Massart, Richard Danger, Catharina Olsen, Mary J Emond, Ondrej Viklicky, Isabelle Pirson

Front Med (Lausanne)· May 2023

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Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Isabelle Pirson

Clin Genet· March 2023

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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Isabelle Pirson

Hum Genomics· March 2023

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Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Isabelle Pirson

Mol Genet Genomic Med· September 2021

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TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Valerie Jacquemin, Mathieu Antoine, Sarah Duerinckx, Annick Massart, Julie Desir, Isabelle Pirson

Hum Mol Genet· February 2021

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IRSp53 is a novel interactor of SHIP2: A role of the actin binding protein Mena in their cellular localization in breast cancer cells.
Mathieu Antoine, Isabelle Vandenbroere, Somadri Ghosh, Christophe Erneux, Isabelle Pirson

Cell Signal· September 2020

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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Daniel L Polla, Elisa Rahikkala, Michaela K Bode, Tuomo Määttä, Teppo Varilo, Isabelle Pirson

Eur J Hum Genet· April 2020

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Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Sarah Duerinckx, Valérie Jacquemin, Séverine Drunat, Yoann Vial, Sandrine Passemard, Isabelle Pirson

Hum Mutat· February 2020

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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Daniel L Polla, Elisa Rahikkala, Michaela K Bode, Tuomo Määttä, Teppo Varilo, Isabelle Pirson

Eur J Hum Genet· August 2019

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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo, Laurence Desmyter, Isabelle Pirson

Mol Genet Genomic Med· April 2018

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Severe congenital microcephaly with AP4M1 mutation, a case report.
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson

BMC Med Genet· May 2017

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Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.
Eugénie Ansseau, Jocelyn O Eidahl, Céline Lancelot, Alexandra Tassin, Christel Matteotti, Isabelle Pirson

PLoS One· July 2016

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tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson

PLoS Genet· October 2013

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How does SHIP1/2 balance PtdIns(3,4)P2 and does it signal independently of its phosphatase activity?
Jingwei Xie, Christophe Erneux, Isabelle Pirson

Bioessays· August 2013

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Anne Genin, Julie Desir, Nelle Lambert, Martine Biervliet, Nathalie Van Der Aa, Isabelle Pirson

Hum Mol Genet· December 2012

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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
Anais Drielsma, Chaim Jalas, Nicolas Simonis, Julie Désir, Natalia Simanovsky, Isabelle Pirson

J Med Genet· November 2012

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Iodotyrosine deiodinase defect identified via genome-wide approach.
Agnès Burniat, Isabelle Pirson, Catheline Vilain, Willem Kulik, Gijs Afink

J Clin Endocrinol Metab· July 2012

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SHIP2 multiple functions: a balance between a negative control of PtdIns(3,4,5)P₃ level, a positive control of PtdIns(3,4)P₂ production, and intrinsic docking properties.
Christophe Erneux, William's Elong Edimo, Laurence Deneubourg, Isabelle Pirson

J Cell Biochem· September 2011

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Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
Régis Azizieh, David Orduz, Patrick Van Bogaert, Tristan Bouschet, Wendy Rodriguez, Isabelle Pirson

Mol Neurobiol· August 2011

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Oligomers of grape-seed procyanidin extract activate the insulin receptor and key targets of the insulin signaling pathway differently from insulin.
Gemma Montagut, Sheela Onnockx, Montserrat Vaqué, Cinta Bladé, Mayte Blay, Isabelle Pirson

J Nutr Biochem· June 2010

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SHIP2 (SH2 domain-containing inositol phosphatase 2) SH2 domain negatively controls SHIP2 monoubiquitination in response to epidermal growth factor.
Julie De Schutter, Aude Guillabert, Virginie Imbault, Chantal Degraef, Christophe Erneux, Isabelle Pirson

J Biol Chem· December 2009

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Insulin increase in MAP kinase phosphorylation is shifted to early time-points by overexpressing APS, while Akt phosphorylation is not influenced.
Sheela Onnockx, Jingwei Xie, Chantal Degraef, Christophe Erneux, Isabelle Pirson

Exp Cell Res· September 2009

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