Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

Authors: Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson

Source: Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)

Subject Terms: Congenital hydrocephalus, Oligogenic inheritance, Exome sequencing, Mutation burden test, Cilia, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a

An exome-wide study of renal operational tolerance

Authors: Annick Massart, Richard Danger, Catharina Olsen, Mary J. Emond, Ondrej Viklicky, Valérie Jacquemin, Julie Soblet, Sarah Duerinckx, Didier Croes, Camille Perazzolo, Petra Hruba, Dorien Daneels, Ben Caljon, Mehmet Sukru Sever, Julio Pascual, Marius Miglinas, the Renal Tolerance Investigators, Isabelle Pirson, Lidia Ghisdal, Guillaume Smits, Magali Giral, Daniel Abramowicz, Marc Abramowicz, Sophie Brouard, Maria Aguilar Rodríguez, Friederike Bachmann, Rajendra Bahadur Shahi, Frederike Bemelman, Luboslav Bena, Luigi Biancone, Laura Braun, Klemens Budde, Alejandro Camargo-Salamanca, Katia Clemente, Hulya Colak, Adrian Covic, Jacques Degreve, Philippe Gatault, François Glowacki, Karine Hadaya, Marc Hazzan, Bénédicte Janbon, Christophe Legendre, Umberto Maggiore, Anja Mühlfeld, Maarten Naesens, Christian Noël, Rainer Oberbauer, Evangeline Pillebout, Gian Benedetto Piredda, Francesco Pisani, Ana Ramírez Puga, Tomas Reischig, Francisco González-Roncero, Søren Schwartz Sørensen, Daniel Seron Micas, Nurhan Seyahi, Dimitrie Siriopol, Goce Spasovski, Jean-François Subra, Erik Teugels, Serhan Tuǧlular, Sonia Van Dooren, Catheline Vilain, Florence Villemain, Xavier Warling, Bruno Watschinger, Laurent Weekers

Source: Frontiers in Medicine, Vol 9 (2023)

Subject Terms: exome sequencing, renal transplantation, operational tolerance, NGAL, LCN2, Homer2, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.976248/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/728d19d9593f48acbfe88073eed48e31

Proximity Interactome Analysis of Super Conserved Receptors Expressed in the Brain Identifies EPB41L2, SLC3A2, and LRBA as Main Partners

Authors: Abeer Kaafarani, Romain Darche-Gabinaud, Xavier Bisteau, Virginie Imbault, Valérie Wittamer, Marc Parmentier, Isabelle Pirson

Source: Cells, Vol 12, Iss 22, p 2625 (2023)

Subject Terms: orphan GPCR, SREBs, Bio-ID2, proximity-dependent biotinylation, EPB41L2, SLC3A2, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/22/2625; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/75110abea3fc4ec1b16687b41b3633fa

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Authors: Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

Subject Terms: brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/7feac2e044344c5c91673d23c2f81236

Severe congenital microcephaly with AP4M1 mutation, a case report

Authors: Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz

Source: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

Subject Terms: Exome sequencing, Brain development, Consanguinity, Intellectual disability, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0412-9; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/c023883a2e1942b999aee670aa32ffb0

Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.

Authors: Eugénie Ansseau, Jocelyn O Eidahl, Céline Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Céline Hubeau, Cécile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q Harper, Alexandra Belayew, Frédérique Coppée

Source: PLoS ONE, Vol 11, Iss 1, p e0146893 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4729438?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/00152b00ce904218ab3a9446851e8b48

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

Authors: Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop

Source: PLoS Genetics, Vol 9, Iss 10, p e1003888 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3814312?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/e03ab59fc8c94e0bb421e36e2f753016

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