Search Results - "Kalscheuer, Vera M."

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons by Ricciardi, Sara, Ungaro, Federica, Hambrock, Melanie, Rademacher, Nils, Stefanelli, Gilda, Brambilla, Dario, Sessa, Alessandro, Magagnotti, Cinzia, Bachi, Angela, Giarda, Elisa, Verpelli, Chiara, Kilstrup-Nielsen, Charlotte, Sala, Carlo, Kalscheuer, Vera M., Broccoli, Vania

“…Mutations of the cyclin-dependent kinase-like 5 ( CDKL5 ) and netrin-G1 ( NTNG1 ) genes cause a severe neurodevelopmental disorder with clinical features that…”
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology by Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.

“…Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. Genetic analysis of an…”
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study by Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof

“…Summary Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in…”
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes by Endele, Sabine, Rosenberger, Georg, Geider, Kirsten, Popp, Bernt, Tamer, Ceyhun, Stefanova, Irina, Milh, Mathieu, Kortum, Fanny, Fritsch, Angela, Pientka, Friederike K, Hellenbroich, Yorck, Kalscheuer, Vera M, Kohlhase, Jurgen, Moog, Ute, Rappold, Gudrun, Rauch, Anita, Ropers, Hans-Hilger, von Spiczak, Sarah, Tonnies, Holger, Villeneuve, Nathalie, Villard, Laurent, Zabel, Bernhard, Zenker, Martin, Laube, Bodo, Reis, Andre, Wieczorek, Dagmar, Van Maldergem, Lionel, Kutsche, Kerstin

“…N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding…”
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations by O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.

“…We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID),…”
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Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy by Haddad, Dominik M., Vilain, Sven, Vos, Melissa, Esposito, Giovanni, Matta, Samer, Kalscheuer, Vera M., Craessaerts, Katleen, Leyssen, Maarten, Nascimento, Rafaella M.P., Vianna-Morgante, Angela M., De Strooper, Bart, Van Esch, Hilde, Morais, Vanessa A., Verstreken, Patrik

“…The prevalence of intellectual disability is around 3%; however, the etiology of the disease remains unclear in most cases. We identified a series of patients…”
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability by LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika

“…The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we…”
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan

“…Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation…”
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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis by Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M, Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto

“…Ca ²⁺ in neurons is vital to processes such as neurotransmission, neurotoxicity, synaptic development, and gene expression. Disruption of Ca ²⁺ homeostasis…”
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Effect of inbreeding on intellectual disability revisited by trio sequencing by Kahrizi, Kimia, Hu, Hao, Hosseini, Masoumeh, Kalscheuer, Vera M., Fattahi, Zohreh, Beheshtian, Maryam, Suckow, Vanessa, Mohseni, Marzieh, Lipkowitz, Bettina, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Jamali, Payman, Falahat Chian, Milad, Nikuei, Pooneh, Sabbagh Kermani, Farahnaz, Sadeghinia, Farnaz, Jazayeri, Roshanak, Tonekaboni, S. Hassan, Khoshaeen, Atefeh, Habibi, Haleh, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Wienker, Thomas F., Najmabadi, Hossein, Ropers, Hans‐Hilger

“…In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and…”
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability by Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

“…Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly…”
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Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16 by Shehata, Saifeldin N, Deak, Maria, Morrice, Nicholas A, Ohta, Eriko, Hunter, Roger W, Kalscheuer, Vera M, Sakamoto, Kei

“…PCTAIRE-1 [also known as cyclin-dependent kinase 16 (CDK16)] is implicated in various physiological processes such as neurite outgrowth and vesicle…”
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment by Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie

“…In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked…”
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity by Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

“…Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia…”
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits by Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.

“…Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common…”
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Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients by Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus

“…Agenesis of the corpus callosum (ACC) is among the most frequent human brain malformations with an incidence of 0.5–70 in 10,000. It is a heterogeneous…”
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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation by Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

“…In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a…”
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies by Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T., Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E., Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V., Romeike, Bernd F., Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H., Jabs, Ethylin Wang, MacDonald, Marcy E., Harris, David J., Quade, Bradley J., Ropers, Hans-Hilger, Shaffer, Lisa G., Kutsche, Kerstin, Layman, Lawrence C., Tommerup, Niels, Kalscheuer, Vera M., Shi, Yang, Morton, Cynthia C., Kim, Cheol-Hee, Gusella, James F.

“…Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple…”
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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability by Chiou, Tzu-Ting, Long, Philip, Schumann-Gillett, Alexandra, Kanamarlapudi, Venkateswarlu, Haas, Stefan A, Harvey, Kirsten, O'Mara, Megan L, De Blas, Angel L, Kalscheuer, Vera M, Harvey, Robert J

“…The recruitment of inhibitory GABA receptors to neuronal synapses requires a complex interplay between receptors, neuroligins, the scaffolding protein gephyrin…”
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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models by Meziane, Hamid, Birling, Marie-Christine, Wendling, Olivia, Leblanc, Sophie, Dubos, Aline, Selloum, Mohammed, Pavlovic, Guillaume, Sorg, Tania, Kalscheuer, Vera M, Billuart, Pierre, Laumonnier, Frédéric, Chelly, Jamel, van Bokhoven, Hans, Herault, Yann

“…Major progress has been made over the last decade in identifying novel genes involved in neurodevelopmental disorders, although the task of elucidating their…”
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