Results 261 to 270 of about 87,727 (384)
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing. [PDF]
EMBO Mol MedXu J, Mao X, Liu Z, Jiang N, Wong XE, Liu D, Wang Y, Zhan H, Liu S, Yu J, Yuan R, Bai Q, Bai X, Huang W, Xie R, Krenn V, Kirchhoff F, Wang H, Guo Z, Bian S. +19 moreeuropepmc +1 more sourceA mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disorders. [PDF]
Front Cell NeurosciDi Pasquale G, Colella J, Di Cataldo CP, Soler MA, Fortuna S, Mizrahi-Powell E, Nizon M, Cognè B, Turchetti V, Mangano GD, Comisi FF, Cecchetti C, Giliberti A, Nardello R, Pavone P, Falsaperla R, Di Rosa G, Evrony GD, Delvecchio M, Severino M, Accogli A, Vittori A, Salpietro V. +22 moreeuropepmc +1 more sourceGenetic testing in cerebral palsy with clinical and neuroimaging variables
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1443-1452, November 2025.This original article is commented by Krägeloh‐Mann on pages 1376–1377 of this issue.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16334 Abstract Aim
To optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables.Esther M. Tantsis, Shekeeb S. Mohammad, Simon P. Paget, Yisselle I. Virella‐Perez, Velda X. Han, Dianah Hadi, Chaya Goldman, Michelle A. Farrar, Michael Fahey, Russell C. Dale, the GENE‐CP study group, Kristine Alba‐Concepcion, David J Amor, Tajul Arifin Tajudin, Nadia Badawi, Elizabeth Barnes, Bruce Bennetts, Hilla Ben Pazi, Darius Ebrahimi‐Fakhari, Darcy Fehlings, Donna M Ferriero, Jennifer Friedman, Jozef Gecz, Gladys Ho, Sachin Gupta, Rod W Hunt, Kavitha Kothur, Michael Kruer, Manju A Kurian, Maria Kyriagis, Wang Tso Lee, Sarah McIntyre, Aurélie Méneret, Jonathan W Mink, Catherine Morgan, Angela Morrow, Nardo Nardocci, Emanuela Pagliano, Elizabeth E. Palmer, Toni S Pearson, Belén Pérez‐Dueñas, Emmanuel Roze, Michael Shevell, Anna te Velde, Mary‐Clare Waugh, Michèl A Willemsen, Yana A Wilson +46 morewiley +1 more sourceFoetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract
Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde +33 morewiley +1 more sourceNovel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly
, 2004 C Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R. Frank Kooy, Herbert A. Lubs, Roger E. Stevenson, Juliane Ramser, Charles E. Schwartz +9 moreopenalex +1 more sourceCDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation [PDF]
, 2010 Arijit Mukhopadhyay, Jamie M. Kramer, Gerard Merkx, Dorien Lugtenberg, Dominique Smeets, Merel A.W. Oortveld, Ellen A.W. Blokland, Jyoti Agrawal, Annette Schenck, Hans van Bokhoven, Erik Huys, Eric Schoenmakers, Ad Geurts van Kessel, C. E. van Nouhuys, Frans P.M. Cremers +14 moreopenalex +1 more sourceRationally Designed TadA‐Derived Cytosine Editors Enable Context‐Independent Zebrafish Genome Editing
Advanced Science, Volume 12, Issue 39, October 20, 2025.A next‐generation cytosine base editor (zTadCBE) and other variants are developed by combining the high‐efficiency (TadCBEa) and low‐indel (TadCBEMax) architectures, followed by the introduction of zebrafish‐optimized mutations (V82S, Q154R) in the TadA domain.Wei Qin, Sheng‐Jia Lin, Yu Zhang, Kevin Huang, Cassidy Petree, Kevin Boyd, Pratishtha Varshney, Gaurav K. Varshney +7 morewiley +1 more source
