Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Cited by (176)

Items 101–176 of 176

1. Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
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2. A Case of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited from a Nonaffected Mosaic Parent: Molecular Analysis and Ethical Implications
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3. Altered thalamocortical development in the SAP102 knockout model of intellectual disability
   Alex Crocker-Buque, Stephen P. Currie, Liliana L. Luz, Seth G. N. Grant, Kevin R. Duffy, Peter C. Kind, Michael I. Daw · 2016 · Human Molecular Genetics
4. Hippocampal DNA Methylation in a Mouse Model of Fetal Alcohol Spectrum Disorder That Includes Maternal Separation Stress Only Partially Explains Changes in Gene Expression
   Bonnie Alberry, Shiva M. Singh · 2020 · Frontiers in Genetics
5. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts
   Jasbir Singh Dalal, Kellen Diamond Winden, Catherine Lourdes Salussolia, Maria Sundberg, Achint K. Singh, Truc Thanh Pham, Pingzhu Zhou, William T. Pu, Meghan T. Miller, Mustafa Şahin · 2021 · eLife
6. Planar Cell Polarity Gene Mutations in Autism Spectrum Disorder, Intellectual Disabilities, and Related Deletion/Duplication Syndromes
   Nathalie Sans, Jérôme Ezan, Maïté Marie Moreau, Mireille Montcouquiol · 2016 · Elsevier eBooks
7. Psychiatric disease: All in the mind of a mouse
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8. Investigation of DNA Binding of Newly Designed Zn (II) Complexes With N‐N and O‐O Donor Ligands as Potential Antioxidants: Spectroscopic, Electrochemical, and Molecular Docking Studies
   Ameneh Heidari, Effat Dehghanian, Hamid Ahmar · 2025 · Applied Organometallic Chemistry
9. Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder
   Bonnie Alberry, Christina A. Castellani, Shiva M. Singh · 2020 · Journal of Neurodevelopmental Disorders
10. 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases
    Alyxis G. Coyan, Lisa M. Dyer · 2020 · European Journal of Medical Genetics
11. A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
    Raman Kumar, Thuong Ha, Duyen Pham, Marie A Shaw, Marie Mangelsdorf, Kathryn L. Friend, Lynne Hobson, GILLIAN M. TURNER, Jackie Boyle, Michael J. Field et al. · 2016 · European Journal of Human Genetics
12. Deficits in integrative NMDA receptors caused by Grin1 disruption can be rescued in adulthood
    Sridevi Venkatesan, Mary A. Binko, Catharine A. Mielnik, Amy J. Ramsey, Evelyn K. Lambe · 2023 · Neuropsychopharmacology
13. SAP102 regulates synaptic AMPAR function through a CNIH-2-dependent mechanism
    Mingna Liu, Rebecca Shi, Hongik Hwang, Kyung Seok Han, Man Ho Wong, Xiaobai Ren, Laura D. Lewis, Emery N. Brown, Weifeng Xu · 2018 · Journal of Neurophysiology
14. A General Basis for Cognition in the Evolution of Synapse Signaling Complexes
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15. Global Developmental Delay and Mental Retardation/Intellectual Disability
    Elliott H. Sherr, Michael Israel Shevell · 2012 · Elsevier eBooks
16. A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
    Anna Sandestig, Anna Gréen, Johan Aronsson, Katarina Ellnebo‐Svedlund, M Stefanova · 2019 · Molecular Syndromology
17. Regulation of SAP102 Synaptic Targeting by Phosphorylation
    Zhe Wei, Guangyu Wu, Bo-Shiun Chen · 2017 · Molecular Neurobiology
18. Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
    Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti et al. · 2019 · Gene
19. A Genome-Wide Association Study in Human Lymphoblastoid Cells Supports Safety of Mitochondrial Complex I Inhibitor
    Huan-Yao Gao, Utkarsh Tripathi, S. Trushin, L. Okromelidze, Nicholas P Pichurin, Lixuan Wei, Yong-Xian Zhuang, Lie-Wei Wang, E. Trushina · 2021 · Mitochondrion (Amsterdam. Print)
20. Consequence of Dementia and Cognitive Impairment by Primary Nucleation Pathway
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21. Alteration of epigenetic program to recover memory and alleviate neurodegeneration: prospects of multi-target molecules
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22. Identification of a novel Dlg2 isoform differentially expressed in IFNβ-producing plasmacytoid dendritic cells
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23. Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders
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24. Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability
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25. Monogenic Causes of Mental Retardation
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26. Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study
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27. Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report
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28. Phenotype Heterogeneity in 3q29 Microduplication Syndrome.
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29. Evolution of the Discs large gene family provides new insights into the establishment of apical epithelial polarity and the etiology of mental retardation
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30. Structural and Functional Organization of the Postsynaptic Density
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31. Pathways to Barrel Development
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32. Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA
    Claire R. Quilter, K. M. Harvey, Julien Bauer, Benjamin Matthew Skinner, Maria Gomez, Manu Kunaal Shrivastava, Andrew M. Doel, Saikou Drammeh, David B. Dunger, Sophie E. Moore et al. · 2021 · FASEB BioAdvances
33. Synapse-associated protein 102 – a highly mobile MAGUK predominate in early synaptogenesis
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34. Multifaceted roles of DLG3/SAP102 in neurophysiology, neurological disorders and tumorigenesis
    Khalid Idris Gidado, Funmilayo Oladunni Adeshakin, Lawan Rabiu, Ziyang Zhang, Guizhong Zhang, Xiaochun Wan · 2024 · Neuroscience
35. SAP102 contributes to hyperalgesia formation in the cancer induced bone pain rat model by anchoring NMDA receptors
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36. Synapse formation and function
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37. Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
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38. Identification of a DLG3 stop mutation in the MRX20 family
    Jolien Huyghebaert, Ligia Monica Mateiu, Ellen Elinck, Kirsten Esther Van Rossem, Bregje Christiaenssen, Claudio Peter D’Incal, Michael K. McCormack, Alice M. Lazzarini, Geert Vandeweyer, R. Frank Kooy · 2024 · European Journal of Human Genetics
39. LRFN2 gene variant rs2494938 provides susceptibility to esophageal cancer in the population of Jammu and Kashmir
    NazirAhmed Dar, Swarkar Sharma, Ruchi Shah, Varun Sharma, Hemender Singh, Indu Sharma, GulzarAhmed Bhat, IdreesAyoub Shah, Beenish Iqbal, R Rafiq et al. · 2020 · Journal of Cancer Research and Therapeutics
40. Identification of a Novel Deletion Region in 3q29 Microdeletion Syndrome by Oligonucleotide Array Comparative Genomic Hybridization
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41. X-Linked ASDs and ID Gene Mutations
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42. DLG2–DLG4 Expression Is Associated with Improved Survival and a Synaptic Gene Signature in Lower-Grade Glioma
    Felipe Franco Pinheiro Gaia, Henrique Ritter Dal-Pizzol, Osvaldo Malafaia, Rafael Roesler, Gustavo Rassier Isolan · 2026 · Cancers
43. JNK activity modulates postsynaptic scaffold protein SAP102 and kainate receptor dynamics in dendritic spines
    Stella‐Amrei Kunde, Bettina Schmerl, Judith von Sivers, Elham Ahmadyar, Taanisha Gupta, Nils Rademacher, Hanna L. Zieger, Sarah A. Shoichet · 2024 · Journal of Biological Chemistry
44. Polymorphisms in the DLG3 Gene is not Associated with Non-Syndromic Mental Retardation in the Chinese Han Population of Qin-Ba Mountain
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45. Synapse Proteomes and Disease
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46. Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder
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47. DLG3 Impairment Caused by Missense Variants in Non-Syndromic X-Linked Mental Retardation
    Meryem Alagöz, Nasim Kherad, Hüseyin Avni Solğun, Alper Ozkılıc, Elif Sibel Aslan, Süreyya Bozkurt, Şeyda Demirkol, Adnan Yüksel · 2021 · Research Square
48. Synaptome architecture shapes regional dynamics in the mouse brain
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49. A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review
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50. Synapse types are spatially associated with regional hemodynamics in the mouse brain
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51. Spine Morphology and Plasticity in X-linked Mental Retardations
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53. Further phenotypical delineation of DLG3-related neurodevelopmental disorders
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