Article
Oncology
Laurent Turchi, Nathalie Sakakini, Gaelle Saviane, Beatrice Polo, Mirca Saras Saurty-Seerunghen, Mathieu Gabut, Corine Auge Gouillou, Vincent Guerlais, Claude Pasquier, Marie Luce Vignais, Fabien Almairac, Herve Chneiweiss, Marie-Pierre Junier, Fanny Burel-Vandenbos, Thierry Virolle
Summary: The study demonstrates that the RNA binding protein CELF2 plays a key role in maintaining the proliferative/OLIG2 cell phenotype in GBM, with patient-derived GSCs showing reduced tumor growth when CELF2 is deficient. CELF2 is closely associated with the expression of TRIM28 and G9a, contributing to the silencing of the SOX3 gene through a H3K9me3 epigenetic profile. The invalidation of SOX3 in CELF2-deficient patient-derived cells rescued proliferation and OLIG2 expression, ultimately influencing the malignant potential of GBM.
Article
Medicine, Research & Experimental
Saeed Soleymanjahi, Valerie Blanc, Elizabeth A. Molitor, David M. Alvarado, Yan Xie, Vered Gazit, Jeffrey W. Brown, Kathleen Byrnes, Ta-Chiang Liu, Jason C. Mills, Matthew A. Ciorba, Deborah C. Rubin, Nicholas O. Davidson
Summary: RNA-binding protein 47 (RBM47) plays an important role in embryonic endoderm development, and this study found that it also has implications in adult intestine function. Knockout mice lacking Rbm47 showed increased cell proliferation and abnormal morphology in the intestine, while Rbm47-deficient mice were protected against colitis-associated cancer. The findings suggest that RBM47 is a cell-intrinsic modifier of intestinal growth, inflammatory, and tumorigenic pathways.
Review
Cell Biology
Binita Goswami, Sharanya Nag, Partho Sarothi Ray
Summary: Exposure to stress leads to changes in gene expression and cells respond to stress through RNA-protein interactions, with RBPs playing a central regulatory role in controlling RNA metabolism. Stress triggers post-translational modifications of RBPs, affecting their subcellular localization, association with stress granules, degradation, and RNA-binding activities. Changes in the fate and functions of RBPs under stress directly impact their post-transcriptional regulatory roles.
WILEY INTERDISCIPLINARY REVIEWS-RNA
(2023)
Article
Cardiac & Cardiovascular Systems
Miguel Sainz-Jaspeado, Ross O. Smith, Oscar Plunde, Sven-Christian Pawelzik, Yi Jin, Sofia Nordling, Yindi Ding, Pontus Aspenstrom, Marie Hedlund, Giulia Bastianello, Flora Ascione, Qingsen Li, Cansaran Saygili Demir, Dinesh Fernando, Geoffrey Daniel, Anders Franco-Cereceda, Jeffrey Kroon, Marco Foiani, Tatiana Petrova, Manfred W. Kilimann, Magnus Back, Lena Claesson-Welsh
Summary: PALMD is a crucial protein in endothelial cells with implications in nucleocytoplasmic transport and gene regulation, as evidenced by its interaction with RANGAP1. Reduction of PALMD expression results in subcellular relocalization of RANGAP1 and XPO1, leading to nuclear arrest of certain cargoes and gene regulatory changes.
Review
Oncology
Yingshu Cao, Xin Di, Qinghua Zhang, Ranwei Li, Ke Wang
Summary: RBM10 is a RNA-binding motif protein involved in alternative splicing and mRNA post-transcriptional modification. It has been found to be abnormally expressed in various malignant tumors and has dual effects of inhibiting and promoting cancer growth.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
S. Parakh, E. R. Perri, M. Vidal, J. Sultana, S. Shadfar, P. Mehta, A. Konopka, C. J. Thomas, D. M. Spencer, J. D. Atkin
Summary: Mutations in the Fused in Sarcoma (FUS) gene result in mislocalization of the FUS protein from the nucleus to the cytoplasm, leading to inclusion formation, defects in nucleocytoplasmic transport, Golgi fragmentation, and ER stress. Protein disulfide isomerase (PDI) has been shown to have a protective role against FUS-associated ALS, restoring defects in nuclear import, preventing inclusion formation, Golgi fragmentation, ER stress, ER-Golgi transport defects, and apoptosis in neuronal cells.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Raquel Coronel, Adela Bernabeu-Zornoza, Charlotte Palmer, Rosa Gonzalez-Sastre, Andreea Rosca, Patricia Mateos-Martinez, Victoria Lopez-Alonso, Isabel Liste
Summary: This study investigates the effects of amyloid precursor protein (APP) overexpression on human neural stem cells (hNSCs) and identifies differentially expressed genes related to neuronal and glial differentiation processes, as well as signaling pathways such as Notch, Wnt, PI3K-AKT, and JAK-STAT.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Retraction
Multidisciplinary Sciences
Dan Wang, Xiaoxiao Xu, Junwei Pan, Shixin Zhao, Yu Li, Zhen Wang, Jiahao Yang, Xi Zhang, Yisheng Wang, Ming Liu
Summary: This article has been retracted.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Ahmed M. Malik, Josephine J. Wu, Christie A. Gillies, Quinlan A. Doctrove, Xingli Li, Haoran Huang, Elizabeth H. M. Tank, Vikram G. Shakkottai, Sami Barmada
Summary: RNA-binding protein (RBP) dysfunction plays a fundamental role in amyotrophic lateral sclerosis (ALS) and related neuromuscular disorders. This study shows that activity-dependent processes regulate the levels and functions of the RBP Matrin 3 (MATR3). Glutamatergic activity drives MATR3 degradation, and mutations in MATR3 render it resistant to degradation, suggesting a link between activity-dependent MATR3 regulation and disease.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Yang Xu, Fanen Yuan, Qian Sun, Linyao Zhao, Yu Hong, Shiao Tong, Yangzhi Qi, Liguo Ye, Ping Hu, Zhang Ye, Si Zhang, Baohui Liu, Qianxue Chen
Summary: RNA-binding protein CSTF2 is upregulated in human glioblastoma (GBM) and promotes GBM cell survival by binding to the mRNA of the BAD protein to shorten its 3' UTR, resulting in the destabilization of BAD mRNA and inhibition of BAD-mediated apoptosis.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2023)
Article
Biochemistry & Molecular Biology
Hsiang-Pu Feng, Yu -Chin Liu, Chih-Liang Wang, Wei -Chao Liao, Jau-Song Yu, Chia-Jung Yu
Summary: KPNA2 is a nucleoplasmic protein responsible for nuclear import. Aberrant nuclear accumulation of KPNA2 has been observed in cancer tissues. AMPK is involved in the phosphorylation and acetylation of KPNA2, but its impact on the nucleocytoplasmic distribution of KPNA2 and its oncogenic role is unclear.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Medicine, Research & Experimental
Zhen Zhu, Jun Xie, Upasana Manandhar, Xiaomin Yao, Yawen Bian, Bo Zhang
Summary: Osteoarthritis is a common degenerative disease in the elderly, and current treatments can only alleviate symptoms. Studies have found that GNL3, IL24, and PTN genes are upregulated in OA patients, making them potential therapeutic targets for the future.
Article
Biochemistry & Molecular Biology
Hiroaki Kanzaki, Tetsuhiro Chiba, Tatsuya Kaneko, Junjie Ao, Motoyasu Kan, Ryosuke Muroyama, Shingo Nakamoto, Tatsuo Kanda, Hitoshi Maruyama, Jun Kato, Yoh Zen, Ai Kotani, Kazuma Sekiba, Motoyuki Otsuka, Masayuki Ohtsuka, Naoya Kato
Summary: ELAVL1 protein is not only involved in the replication of hepatitis B virus, but also has an impact on the cell growth of hepatocellular carcinoma, making it a potential therapeutic target for HBV-related HCC treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Seung Chan Kim, Scott J. Mitchell, Seema Qamar, Daniel J. Whitcomb, Marc-David Ruepp, Peter St George-Hyslop, Kwangwook Cho
Summary: Research found that the hypomethylation of FUS in sporadic FTLD leads to abnormal neuronal function. These hypomethylated FUS condensates exhibit movement and affect synaptic transmission, postsynaptic density-95 expression, and dendritic spine plasticity. The localization and ability of condensates to undergo liquid-liquid phase separation are key factors in causing these neurophysiological defects.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Neurosciences
AnnaMaria Maraschi, Valentina Gumina, Jessica Dragotto, Claudia Colombrita, Miguel Mompean, Emanuele Buratti, Vincenzo Silani, Marco Feligioni, Antonia Ratti
Summary: Research indicates that SUMOylation can regulate TDP-43 splicing activity and sub-cellular localization, promoting or inhibiting SUMOylation may influence the cytoplasmic localization and aggregation formation of TDP-43.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Johannes Luppe, Heinrich Sticht, Francois Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denomme-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
Summary: The study identified eight individuals with ultra rare variants in STX1A who presented with a spectrum of intellectual disability, autism, and epilepsy. The phenotypic course varied depending on the type of variant, with missense variants mainly causing epilepsy and single amino acid deletions and the splice variant causing intellectual disability and autistic behavior. In silico modeling showed different impaired protein-protein interactions for missense variants and single amino acid deletions. These findings suggest two different pathogenic mechanisms underlying STX1A-related neurodevelopmental disorders.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Alain Verloes, Emilie Tisserant, Pierre Vabres, Orlane Prevel, Christophe Philippe, Anne-Sophie Denomme-Pichon, Ange-Line Bruel, Frederic Tran Mau-Them, Hana Safraou, Aicha Boughalem, Jean-Marc Costa, Detlef Trost, Christel Thauvin-Robinet, Laurence Faivre, Yannis Duffourd
Summary: This study identified two de novo mobile element insertions (MEIs) in patients with developmental and neurological abnormalities, highlighting the importance of incorporating ME detection in exome sequencing for improved diagnostic rate.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Clinical Neurology
Quentin Thomas, Marie-Catherine Morgant, Sophie Nambot, Christel Thauvin-Robinet, Maurice Giroud
Summary: Facial asymmetry is a result of agenesis or hypoplasia of the muscle of one of the labial commissures, and it may be associated with congenital disorders such as heart, skeletal, or renal malformations. The exact causes of this developmental disorder are not fully understood, but genetic factors may play a role. Understanding this disorder is highly relevant for adult neurologists to differentiate it from facial palsy and to screen for other congenital disorders.
NEUROLOGICAL SCIENCES
(2023)
Letter
Clinical Neurology
Quentin Thomas, Antonio Vitobello, Agnes Fromont, Christophe Philippe, Christel Thauvin-Robinet
NEUROLOGICAL SCIENCES
(2023)
Article
Genetics & Heredity
Sean Massey, Yiran Guo, Lisa G. Riley, Nicole J. Van Bergen, Sarah A. Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M. S. Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou
Summary: This study aimed to characterize the molecular consequences of ANO10 variants and determine their pathologic significance in SCAR10 patients. The researchers identified several ANO10 variants associated with SCAR10 and described an individual with earlier-onset disease, expanding the phenotypic and allelic heterogeneity of ANO10-associated ARCA.
NEUROLOGY-GENETICS
(2023)
Article
Genetics & Heredity
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Genevieve, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cecile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jerome Govin, Bart Dermaut, Antonio Vitobello
Summary: SRSF1 is a non-snRNP that regulates both constitutive and alternative splicing of mRNA. Heterozygous germline SRSF1 variants were identified in individuals with a neuro-developmental disorder, causing developmental delay and intellectual disability. In silico modeling, in vivo splicing assay, and epigenetic analysis confirmed the pathogenicity of most variants and the loss of SRSF1-mediated splicing activity.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Onochie Okoye, Jenina Capasso, Sarina M. Kopinsky, Louise Amlie-Wolf, Alex V. Levin, Adele Schneider
Summary: SOX2 pathogenic variants are the most common known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation but with multi-system developmental disorders have been reported, indicating a broader range of clinical phenotypes. Our study suggests that there is no discernible pattern to distinguish patients with normal eyes. Our findings further expand the phenotypic spectrum of SOX2 mutations and challenge the classification of SOX2 disorder as solely an anophthalmia/microphthalmia syndrome. Considering SOX2 pathogenic variants in individuals with normal eyes is important for differential diagnoses, given the various combinations of features associated with this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cell Biology
Roberto Oleari, Antonella Lettieri, Stefano Manzini, Alyssa Paganoni, Valentina Andre, Paolo Grazioli, Marco Busnelli, Paolo Duminuco, Antonio Vitobello, Christophe Philippe, Varoona Bizaoui, Helen L. Storr, Federica Amoruso, Fani Memi, Valeria Vezzoli, Valentina Massa, Peter Scheiffele, Sasha R. Howard, Anna Cariboni
Summary: The purpose of this study was to identify novel biological mechanisms and genetic determinants underlying GnRH deficiency (GD). The researchers combined transcriptome analysis of GnRH neurons with exome sequencing from GD patients and found loss-of-function (LoF) variants of the NLGN3 gene, which is linked to autism, in two GD patients. This study provides evidence that NLGN3 variants may contribute to GD and suggests common genetic mechanisms underlying neurodevelopmental disorders.
DISEASE MODELS & MECHANISMS
(2023)
Article
Biochemistry & Molecular Biology
Camille Engel, Stephanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valerie Delague, Anne-Sophie Denomme-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gerard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormieres, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlene Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
Summary: BRAT1 biallelic variants are associated with two syndromes, one is a severe phenotype with rigidity and multifocal seizure, and the other is a milder phenotype with cerebellar atrophy. Genotype-phenotype correlations show that different variants are associated with different phenotypes, with nonsense and frameshift variants causing the severe phenotype, missense variants more likely associated with the milder phenotype, and splice variants showing variable phenotypes.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Summary: Haploinsufficiency of TRIP12 causes Clark-Baraitser syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder, and dysmorphic features. Through GestaltMatcher image analysis based on deep-learning algorithms, a distinct facial gestalt was established. The largest cohort to date of individuals with TRIP12 variants was studied, further defining the associated phenotype and introducing a facial gestalt.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cell Biology
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frederic Tran Mau-Them, Anne-Sophie Denomme-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogne, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sebastien Moutton, Melanie Fradin, Christele Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, Francois-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-Francois Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello
Summary: Multi-omics technologies provide valuable and increasingly accessible tools for diagnostic laboratories to help patients with unresolved rare diseases, especially those clinically diagnosed with rare OMIM diseases. However, there is currently no consensus on the optimal diagnostic care pathway to follow after negative results with standard approaches.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E. L. M. Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B. A. W. te Paske, Richarda M. de Voer, Laurence Faivre, Anne-Sophie Denomme-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Toepf, Anneke J. van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G. Hanna, Jana Vandrovcova, Stephan Ossowski, Steven Laurie, Christian Gilissen
Summary: Mobile element insertions (MEIs) are a known cause of genetic disease. This study evaluated six MEI detection tools on exome sequencing (ES) data and genome sequencing (GS) data. Results showed significant differences in tool performance between ES and GS data. MELT performed best on ES data, and combining it with SCRAMble increased the detection rate of MEIs. Applying both tools to a large number of samples resulted in additional diagnoses for previously undiagnosed patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Correction
Genetics & Heredity
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J. M. Dingemans, Dmitrijs Rots, Lukas Lutje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denomme-Pichon, Orrin Devinsky, Christele Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Genevieve, Jacqueline A. C. Goos, Benjamin M. Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A. Lynch, Irene M. J. Mathijssen, Ruth McGowan, Kristin G. Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W. E. Santen, Erina Sasaki, Arthur Sorlin, Peter J. van der Spek, Alexander P. A. Stegmann, Sigrid M. A. Swagemakers, Irene Valenzuela, Eleonore Viora-Dupont, Antonio Vitobello, Stephanie M. Ware, Mathys Weber, Christian Gilissen, Karen J. Low, Simon E. Fisher, Lisenka E. L. M. Vissers, Maggie M. K. Wong, Tjitske Kleefstra
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Anne-Sophie Denomme-Pichon, Stephan C. Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner, Valerie E. Vancollie, Quentin Thomas, Martin Chevarin, Mathys Weber, Carlos E. Prada, Alexis Overs, Marta Palomares-Bralo, Fernando Santos-Simarro, Marta Pacio-Miguez, Tiffany Busa, Eric Legius, Carlos A. Bacino, Jill A. Rosenfeld, Gwenael Le Guyader, Matthieu Egloff, Xavier Le Guillou, Maria Antonietta Mencarelli, Alessandra Renieri, Salvatore Grosso, Jonathan Levy, Blandine Dozieres, Isabelle Desguerre, Antonio Vitobello, Yannis Duffourd, Christopher J. Lelliott, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre, Binnaz Yalcin
Summary: This study found that loss-of-function variants in the YWHAE gene cause a neurodevelopmental disease with brain abnormalities, including developmental delay, delayed speech, seizures, and brain malformations. Patients with only YWHAE gene deletion have milder symptoms compared to those with PAFAH1B1 gene deletion.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloe Quelin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh
Summary: The study reports two unrelated patients with megalencephaly and polydactyly carrying MYCN variants, along with the analysis of mouse models. Functional analysis revealed that the variants led to decreased protein degradation and excessive cell proliferation. The mouse model confirmed the phenotypes of the syndrome and revealed the underlying pathomechanism of megalencephaly. Additionally, morphological anomalies were observed in the kidney and female reproductive tract.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)