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  1. Article ; Online: Genomic strategies to untangle the etiology of autism: A primer.

    Vashisth, Shayal / Chahrour, Maria H

    Autism research : official journal of the International Society for Autism Research

    2022  Volume 16, Issue 1, Page(s) 31–39

    Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, diminished social skills, and restrictive and repetitive behaviors and interests. ASD affects approximately 2.3% of the population and is highly ... ...

    Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, diminished social skills, and restrictive and repetitive behaviors and interests. ASD affects approximately 2.3% of the population and is highly heterogeneous, both phenotypically and genetically. As genomic technologies advance, our understanding of the genetic architecture of ASD is becoming clearer, encompassing spontaneous and inherited alterations throughout the genome, and delineating alterations that are either rare or common in the population. This commentary provides an overview of the genomic strategies and resulting major findings of genetic alterations associated with ASD.
    MeSH term(s) Humans ; Autistic Disorder/genetics ; Autism Spectrum Disorder/genetics ; Genomics ; Causality ; Mutation
    Language English
    Publishing date 2022-11-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2481338-2
    ISSN 1939-3806 ; 1939-3792
    ISSN (online) 1939-3806
    ISSN 1939-3792
    DOI 10.1002/aur.2844
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6785: Show issues Location:
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  2. Article: A Brief Survey of Medical Practitioner Knowledge and Attitudes Regarding Autism Spectrum Disorder in Bahir Dar, Ethiopia.

    Kissel, Abigail / Gebreyohanns, Mehari / Chahrour, Maria H

    African journal of health sciences

    2023  Volume 34, Issue 3, Page(s) 364–373

    Abstract: Background: Autism spectrum disorder (ASD) continues to climb in prevalence worldwide. Developed nations have focused on aligning their medical and research communities in order to investigate the mechanisms of pathogenesis, diagnosis, and societal ... ...

    Abstract Background: Autism spectrum disorder (ASD) continues to climb in prevalence worldwide. Developed nations have focused on aligning their medical and research communities in order to investigate the mechanisms of pathogenesis, diagnosis, and societal impact of this disorder. A simultaneous rise of ASD has impacted developing nations, such as Ethiopia, without a commensurate ability to research the knowledge, beliefs, resources, and training regarding this condition in the country.
    Materials and methods: We administered a brief survey during a medical conference in Bahir Dar, Ethiopia, to investigate some of the education, information, and experiences with ASD within a small sample of medical and mental health providers in Ethiopia.
    Results: The data provided insight into the following areas pertaining to ASD in Ethiopia: perceived causes, knowledge, training, and areas of need.
    Conclusions: Understanding local beliefs for causes and cures, as well as gaining indigenous opinions regarding what is needed for ASD education and resources in their nation, is the first step towards understanding the impact of this disorder and the approach to its treatment in Ethiopia.
    Language English
    Publishing date 2023-10-18
    Publishing country Kenya
    Document type Journal Article
    ZDB-ID 1446154-7
    ISSN 1022-9272
    ISSN 1022-9272
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5827: Show issues Location:
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  3. Article ; Online: Insights Into DDX3X Syndrome From a Novel Mouse Model With Construct and Face Validity.

    Vashisth, Shayal / Chahrour, Maria H

    Biological psychiatry

    2021  Volume 90, Issue 11, Page(s) 732–734

    MeSH term(s) Animals ; Cell Line ; DEAD-box RNA Helicases/genetics ; Mice ; Reproducibility of Results ; Syndrome
    Chemical Substances DEAD-box RNA Helicases (EC 3.6.4.13) ; Ddx3x protein, mouse (EC 3.6.4.13)
    Language English
    Publishing date 2021-10-29
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2021.09.010
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  4. Article ; Online: Tailored community engagement to address the genetics diversity gap.

    Hanchard, Neil A / Chahrour, Maria / de Vries, Jantina

    Med (New York, N.Y.)

    2022  Volume 3, Issue 6, Page(s) 369–370

    Language English
    Publishing date 2022-05-04
    Publishing country United States
    Document type Letter
    ISSN 2666-6340
    ISSN (online) 2666-6340
    DOI 10.1016/j.medj.2022.05.010
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  5. Article ; Online: A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.

    Soueid, Jihane / Hamze, Zeinab / Bedran, Joe / Chahrour, Maria / Boustany, Rose-Mary

    Translational psychiatry

    2023  Volume 13, Issue 1, Page(s) 404

    Abstract: The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to ... ...

    Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to investigate the impact of an inherited deletion in UBLCP1 (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis. Whole exome sequencing in a Lebanese family with ASD without pathogenic copy number variations (CNVs) uncovered a deletion in UBLCP1. Functional evaluation of the identified variant is described in fibroblasts from the affected. The deletion in UBLCP1 exon 10 (g.158,710,261CAAAG > C) generates a premature stop codon interrupting the phosphatase domain and is predicted as pathogenic. It is absent from databases of normal variation worldwide and in Lebanon. Wild-type UBLCP1 is widely expressed in mouse brains. The mutation results in decreased UBLCP1 protein expression in patient-derived fibroblasts from the autistic patient compared to controls. The truncated UBLCP1 protein results in increased proteasome activity decreased ubiquitinated protein levels, and downregulation in expression of other proteasome subunits in samples from the affected compared to controls. Inhibition of the proteasome by using MG132 in proband cells reverses alterations in gene expression due to the restoration of protein levels of the common transcription factor, NRF1. Finally, treatment with gentamicin, which promotes premature termination codon read-through, restores UBLCP1 expression and function. Discovery of an ASD-linked mutation in UBLCP1 leading to overactivation of cell proteolysis is reported. This, in turn, leads to dysregulation of proteasome subunit transcript levels as a compensatory response.
    MeSH term(s) Animals ; Female ; Humans ; Male ; Mice ; Autism Spectrum Disorder/genetics ; Autistic Disorder ; DNA Copy Number Variations ; Mutation ; Proteasome Endopeptidase Complex/genetics ; Proteasome Endopeptidase Complex/metabolism ; Ubiquitins/genetics
    Chemical Substances Proteasome Endopeptidase Complex (EC 3.4.25.1) ; Ubiquitins ; UBLCP1 protein, human (EC 3.1.3.16)
    Language English
    Publishing date 2023-12-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2609311-X
    ISSN 2158-3188 ; 2158-3188
    ISSN (online) 2158-3188
    ISSN 2158-3188
    DOI 10.1038/s41398-023-02702-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity.

    El Hayek, Lauretta / DeVries, Darlene / Gogate, Ashlesha / Aiken, Ariel / Kaur, Kiran / Chahrour, Maria H

    Science advances

    2023  Volume 9, Issue 47, Page(s) eadi0074

    Abstract: Chromatin regulation plays a pivotal role in establishing and maintaining cellular identity and is one of the top pathways disrupted in autism spectrum disorder (ASD). The hippocampus, composed of distinct cell types, is often affected in patients with ... ...

    Abstract Chromatin regulation plays a pivotal role in establishing and maintaining cellular identity and is one of the top pathways disrupted in autism spectrum disorder (ASD). The hippocampus, composed of distinct cell types, is often affected in patients with ASD. However, the specific hippocampal cell types and their transcriptional programs that are dysregulated in ASD are unknown. Using single-nucleus RNA sequencing, we show that the ASD gene, lysine demethylase 5A (
    MeSH term(s) Humans ; Chromatin/genetics ; Histones/genetics ; Histones/metabolism ; Autistic Disorder/genetics ; Autism Spectrum Disorder/genetics ; Cell Differentiation/genetics ; Retinoblastoma-Binding Protein 2/genetics
    Chemical Substances Chromatin ; Histones ; KDM5A protein, human (EC 1.14.11.-) ; Retinoblastoma-Binding Protein 2 (EC 1.14.11.27)
    Language English
    Publishing date 2023-11-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2810933-8
    ISSN 2375-2548 ; 2375-2548
    ISSN (online) 2375-2548
    ISSN 2375-2548
    DOI 10.1126/sciadv.adi0074
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  7. Article ; Online: Translating genetic and preclinical findings into autism therapies.

    Chahrour, Maria / Kleiman, Robin J / Manzini, M Chiara

    Dialogues in clinical neuroscience

    2018  Volume 19, Issue 4, Page(s) 335–343

    Abstract: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. ... ...

    Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. Evidence that ASD is highly heritable has spurred major efforts to unravel its genetics, revealing possible contributions from hundreds of genes through rare and common variation and through copy-number changes. In this perspective, we provide an overview of the current state of ASD genetics and of how genetic research has spurred the development of in vivo and in vitro models using animals and patient cells to evaluate the impact of genetic mutations on cellular function leading to disease. Efforts to translate these findings into successful therapies have yet to bear fruit. We discuss how the valuable insight into the disorder provided by these new models can be used to better understand ASD and develop future clinical trials.
    MeSH term(s) Animals ; Autistic Disorder/genetics ; Autistic Disorder/therapy ; Disease Models, Animal ; Genetic Therapy/methods ; Humans ; Mutation ; Translational Medical Research
    Language English
    Publishing date 2018-02-15
    Publishing country France
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2188781-0
    ISSN 1958-5969 ; 1294-8322
    ISSN (online) 1958-5969
    ISSN 1294-8322
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6188: Show issues Location:
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  8. Article ; Online: The ubiquitin proteasome pathway in neuropsychiatric disorders.

    Cheon, Solmi / Dean, Milan / Chahrour, Maria

    Neurobiology of learning and memory

    2018  Volume 165, Page(s) 106791

    Abstract: The ubiquitin proteasome system (UPS) is a highly conserved pathway that tightly regulates protein turnover in cells. This process is integral to neuronal development, differentiation, and function. Several members of the UPS are disrupted in ... ...

    Abstract The ubiquitin proteasome system (UPS) is a highly conserved pathway that tightly regulates protein turnover in cells. This process is integral to neuronal development, differentiation, and function. Several members of the UPS are disrupted in neuropsychiatric disorders, highlighting the importance of this pathway in brain development and function. In this review, we discuss some of these pathway members, the molecular processes they regulate, and the potential for targeting the UPS in an effort to develop therapeutic strategies in neuropsychiatric and neurodevelopmental disorders.
    MeSH term(s) Attention Deficit Disorder with Hyperactivity/metabolism ; Autism Spectrum Disorder/metabolism ; Brain Diseases/metabolism ; Humans ; Intellectual Disability/metabolism ; Mental Disorders/metabolism ; Metabolic Networks and Pathways/physiology ; Proteasome Endopeptidase Complex/metabolism ; Proteasome Endopeptidase Complex/physiology ; Schizophrenia/metabolism ; Ubiquitin/metabolism ; Ubiquitin/physiology
    Chemical Substances Ubiquitin ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2018-01-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1223366-3
    ISSN 1095-9564 ; 1074-7427
    ISSN (online) 1095-9564
    ISSN 1074-7427
    DOI 10.1016/j.nlm.2018.01.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: The genetics of autism spectrum disorder in an East African familial cohort.

    Tuncay, Islam Oguz / DeVries, Darlene / Gogate, Ashlesha / Kaur, Kiran / Kumar, Ashwani / Xing, Chao / Goodspeed, Kimberly / Seyoum-Tesfa, Leah / Chahrour, Maria H

    Cell genomics

    2023  Volume 3, Issue 7, Page(s) 100322

    Abstract: Autism spectrum disorder (ASD) is a group of complex neurodevelopmental conditions affecting communication and social interaction in 2.3% of children. Studies that demonstrated its complex genetic architecture have been mainly performed in populations of ...

    Abstract Autism spectrum disorder (ASD) is a group of complex neurodevelopmental conditions affecting communication and social interaction in 2.3% of children. Studies that demonstrated its complex genetic architecture have been mainly performed in populations of European ancestry. We investigate the genetics of ASD in an East African cohort (129 individuals) from a population with higher prevalence (5%). Whole-genome sequencing identified 2.13 million private variants in the cohort and potentially pathogenic variants in known ASD genes (including
    Language English
    Publishing date 2023-05-11
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2023.100322
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  10. Article ; Online: The diverse genetic landscape of neurodevelopmental disorders.

    Hu, Wen F / Chahrour, Maria H / Walsh, Christopher A

    Annual review of genomics and human genetics

    2017  Volume 15, Page(s) 195–213

    Abstract: Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and ... ...

    Abstract Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.
    MeSH term(s) Alleles ; Cerebral Cortex/growth & development ; Cerebral Cortex/metabolism ; Cerebral Cortex/pathology ; Child ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/pathology ; Cytoskeleton/genetics ; Cytoskeleton/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Fingers/abnormalities ; Fingers/pathology ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Malformations of Cortical Development/genetics ; Malformations of Cortical Development/pathology ; Microcephaly/genetics ; Microcephaly/pathology ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Myopia/genetics ; Myopia/pathology ; Neurons/metabolism ; Neurons/pathology ; Obesity/genetics ; Obesity/pathology ; Retinal Degeneration
    Language English
    Publishing date 2017-09-26
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-090413-025600
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