A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, Céline, Vulto-van Silfhout, Anneke T, Coe, Bradley P, Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo L +17 more·2014·Nature Genetics

Cited by (356)

Items 101–200 of 356

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  2. Numerous BAF complex genes are mutated in Coffin–Siris syndrome
    Noriko Miyake, Yoshinori Tsurusaki, Naomichi Matsumoto · 2014 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
  3. Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy
    Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman · 2017 · International Journal of Molecular Sciences
  4. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
    Giulia Pascolini, Emanuele Agolini, Silvia Majore, Antonio Novelli, Paola Grammatico, Maria Cristina Digilio · 2018 · European Journal of Paediatric Neurology
  5. Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain
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  6. Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders
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  7. A novel davunetide (NAPVSIPQ Q to NAPVSIPQ E ) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome
    Illana Gozes, Shula Shazman · 2023 · European Journal of Neuroscience
  8. Challenges and opportunities in the investigation of unexplained intellectual disability using family‐based whole‐exome sequencing
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  9. Cellular and animal models of skin alterations in the autism-related ADNP syndrome
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  10. Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk
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  11. Activity-Dependent Neuroprotective Protein (ADNP): A Case Study for Highly Conserved Chordata-Specific Genes Shaping the Brain and Mutated in Cancer
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  12. Identification of New Tumor Suppressor Genes in Triple-Negative Breast Cancer
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  13. Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
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  14. Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
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  15. The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery
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  16. A comparative study of the genetic components of three subcategories of autism spectrum disorder
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  17. A cytoskeletal function for PBRM1 reading methylated microtubules
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  19. NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms
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  20. Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
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  21. Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes
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  22. In vivo and in vitro ketamine exposure exhibits a dose-dependent induction of activity-dependent neuroprotective protein in rat neurons
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  23. Whole genome sequencing of 45 Japanese patients with intellectual disability
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  24. Reciprocal control of translation and transcription in autism spectrum disorder
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  25. A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders
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  26. ADNP, a Microtubule Interacting Protein, Provides Neuroprotection Through End Binding Proteins and Tau: An Amplifier Effect
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  27. Molecular subtyping and improved treatment of neurodevelopmental disease
    Stessman, Holly A. F., Turner, Tychele N., Eichler, Evan E. · 2016 · Genome Medicine
  28. Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene
    Małgorzata Krajewska‐Walasek, Dorota Jurkiewicz, Dorota Piekutowska‐Abramczuk, Marzena Kucharczyk, Krystyńa Chrzańowska, Aleksandra Jezela‐Stanek, Elżbieta Ciara · 2016 · American Journal of Medical Genetics Part A
  29. Activity-dependent neuroprotective protein (ADNP)-end-binding protein (EB) interactions regulate microtubule dynamics toward protection against tauopathy
    Yanina Ivashko‐Pachima, Illana Gozes · 2020 · Progress in molecular biology and translational science
  30. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
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  31. Neuronal activity-induced BRG1 phosphorylation regulates enhancer activation
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  33. Interaction between FMDV Lpro and transcription factor ADNP is required for optimal viral replication
    Gisselle N. Medina, Giselle M. Knudsen, Alexander L. Greninger, Anna Kloc, Fayna Díaz-San Segundo, Elizabeth A. Rieder, Marvin J. Grubman, Joseph L. DeRisi, Teresa de los Santos · 2017 · Virology
  34. Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
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  35. Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation
    Joseph Levine, David Cohen, Carole Herman, Alain Verloès, Vincent Guinchat, Lautaro Diaz, Cora Cravero, Anne Mandel, Illana Gozes · 2019 · Journal of Molecular Neuroscience
  36. Transcription factors in neurodevelopmental and associated psychiatric disorders: A potential convergence for genetic and environmental risk factors
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  37. Cancer cells are highly susceptible to accumulation of templated insertions linked to MMBIR
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  38. Estimating contribution of rare non‐coding variants to neuropsychiatric disorders
    Atsushi Takata · 2018 · Psychiatry and Clinical Neurosciences
  39. Neuroprotective protein ADNP-dependent histone remodeling complex promotes T helper 2 immune cell differentiation
    Ferreira, Ana C.F., Szeto, Aydan C.H., Clark, Paula A., Crisp, Alastair, Kozik, Patrycja, Jolin, Helen E., McKenzie, Andrew N.J. · 2023 · Immunity
  40. Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis
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  41. Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living
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  42. An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome
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  43. Categorical Versus Dimensional Approaches to Autism-Associated Intermediate Phenotypes in 22q11.2 Microdeletion Syndrome
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  44. Activity-dependent neuroprotective protein (ADNP) is an alcohol-responsive gene and negative regulator of alcohol consumption in female mice
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  45. Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility
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  46. Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder
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  47. Sexual divergence in activity‐dependent neuroprotective protein impacting autism, schizophrenia, and A lzheimer's disease
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  48. The Genetics of Autism Spectrum Disorders
    Yuen, Ryan K. C., Szatmari, Peter, Vorstman, Jacob A. S. · 2019 · Autism and Pervasive Developmental Disorders
  49. Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing
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  50. Exposure to sevoflurane results in changes of transcription factor occupancy in sperm and inheritance of autism†
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  51. The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP
    Illana Gozes · 2015 · Biological Chemistry
  52. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis
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  53. ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case
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  55. ADNP: in search for molecular mechanisms and innovative therapeutic strategies for frontotemporal degeneration
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  56. Molecular hypotheses to explain the shared pathways and underlying pathobiological causes in catatonia and in catatonic presentations in neuropsychiatric disorders
    E.M. Peter-Ross⁎ · 2018 · Medical Hypotheses
  57. Avian models for brain mechanisms underlying altered social behavior in autism
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  58. Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
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  59. A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome
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  60. D-SAL and NAP: Two Peptides Sharing a SIP Domain
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  71. Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus
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