keyword
https://read.qxmd.com/read/38430954/novel-genetic-loci-of-inhibitory-control-in-adhd-and-healthy-children-and-genetic-correlations-with-adhd
#21
JOURNAL ARTICLE
Tao Pang, Ning Ding, Yilu Zhao, Jingjing Zhao, Li Yang, Suhua Chang
Cumulative evidence has showed the deficits of inhibitory control in patients with attention deficit hyperactivity disorder (ADHD), which is considered as an endophenotype of ADHD. Genetic study of inhibitory control could advance gene discovery and further facilitate the understanding of ADHD genetic basis, but the studies were limited in both the general population and ADHD patients. To reveal genetic risk variants of inhibitory control and its potential genetic relationship with ADHD, we conducted genome-wide association studies (GWAS) on inhibitory control using three datasets, which included 783 and 957 ADHD patients and 1350 healthy children...
February 29, 2024: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://read.qxmd.com/read/38428335/concurrent-developmental-regression-and-neurocognitive-decline-in-a-child-with-de-novo-chd8-gene-mutation
#22
JOURNAL ARTICLE
Kyung Eun Paik, GenaLynne C Mooneyham
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unique ASD subtypes have been proposed based on specific genotype-phenotype combinations. The ASD subtype associated with various chromodomain helicase DNA-binding protein 8 (CHD8) mutations has been associated with an incidence of autistic regression greater than that of all-cause ASD, but the mean age of onset of this subtype remains unknown. METHODS: Here we describe a patient with a known de novo CHD8 gene mutation (heterozygous c...
January 5, 2024: Pediatric Neurology
https://read.qxmd.com/read/38426491/challenges-in-developing-therapies-in-fragile-x-syndrome-how-the-fxlearn-trial-can-guide-research
#23
JOURNAL ARTICLE
Jeffrey L Neul
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the single-gene cause of autism, is caused by decreased expression of the fragile X messenger ribonucleoprotein protein (FMRP), a ribosomal-associated RNA-binding protein involved in translational repression. Extensive preclinical work in several FXS animal models supported the therapeutic potential of decreasing metabotropic glutamate receptor (mGluR) signaling to correct translation of proteins related to synaptic plasticity; however, multiple clinical trials failed to show conclusive evidence of efficacy...
March 1, 2024: Journal of Clinical Investigation
https://read.qxmd.com/read/38425142/rare-predicted-deleterious-fezf2-variants-are-associated-with-a-neurodevelopmental-phenotype
#24
JOURNAL ARTICLE
Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack, Clara Hildebrant, Núria Martínez-Gil, Jennifer Mathews, Amelie Johanna Müller, Irene Valenzuela Palafoll, Connolly Steigerwald, Wendy K Chung
FEZF2 encodes a transcription factor critical to neurodevelopment that regulates other neurodevelopment genes. Rare variants in FEZF2 have previously been suggested to play a role in autism, and cases of 3p14 microdeletions that include FEZF2 share a neurodevelopmental phenotype including mild dysmorphic features and intellectual disability. We identified seven heterozygous predicted deleterious variants in FEZF2 (three frameshifts, one recurrent missense in two independent cases, one nonsense, and one complete gene deletion) in unrelated individuals with neurodevelopmental disorders including developmental delay/intellectual disability, autism, and/or attention-deficit/hyperactivity...
February 29, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38424297/loss-of-function-of-activity-dependent-neuroprotective-protein-adnp-by-a-splice-acceptor-site-mutation-causes-helsmoortel-van-der-aa-syndrome
#25
JOURNAL ARTICLE
Claudio Peter D'Incal, Dale John Annear, Ellen Elinck, Jasper J van der Smagt, Mariëlle Alders, Alexander J M Dingemans, Ligia Mateiu, Bert B A de Vries, Wim Vanden Berghe, R Frank Kooy
Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whereas exome sequencing failed to detect the non-coding deletion, genome-wide CpG methylation analysis revealed an episignature suggestive of a Helsmoortel-Van der Aa syndrome diagnosis. This diagnosis was further supported by PhenoScore, a novel facial recognition software package...
February 29, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38424048/contactin-associated-protein-like-2-cntnap2-mutations-impair-the-essential-%C3%AE-secretase-cleavages-leading-to-autism-like-phenotypes
#26
JOURNAL ARTICLE
Qing Zhang, Mengen Xing, Zhengkai Bao, Lu Xu, Yang Bai, Wanqi Chen, Wenhao Pan, Fang Cai, Qunxian Wang, Shipeng Guo, Jing Zhang, Zhe Wang, Yili Wu, Yun Zhang, Jia-Da Li, Weihong Song
Mutations in the Contactin-associated protein-like 2 (CNTNAP2) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its function. However, key enzymes involved in the C-terminal cleavage of CNTNAP2 remain largely unknown, and the effect of ASD-associated mutations on this process and its role in ASD pathogenesis remain elusive. In this report we showed that CNTNAP2 undergoes sequential cleavages by furin, ADAM10/17-dependent α-secretase and presenilin-dependent γ-secretase...
March 1, 2024: Signal Transduction and Targeted Therapy
https://read.qxmd.com/read/38421723/exploratory-genetic-analysis-in-children-with-autism-spectrum-disorder-and-other-developmental-disorders-using-whole-exome-sequencing
#27
JOURNAL ARTICLE
Edin Hamzic, Lemana Spahic, Nirvana Pistoljevic, Eldin Dzanko, Sanela Pasic, Lejla Kadric, Fadila Serdarevic, Aida Hajdarpasic
Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through "EDUS-Education for All", an organization providing services for children with developmental disorders in Bosnia and Herzegovina...
February 6, 2024: Biomol Biomed
https://read.qxmd.com/read/38421437/the-polymorphisms-of-candidate-pharmacokinetic-and-pharmacodynamic-genes-and-their-pharmacogenetic-impacts-on-the-effectiveness-of-risperidone-maintenance-therapy-among-saudi-children-with-autism
#28
JOURNAL ARTICLE
Sireen Abdul Rahim Shilbayeh, Iman Sharaf Adeen, Ayman Shawqi Alhazmi, Haya Aljurayb, Rana Saad Altokhais, Nourah Alhowaish, Khawlah Essa Aldilaijan, Mostafa Kamal, Anwar Mansour Alnakhli
BACKGROUND: Antipsychotics, including risperidone (RIS), are frequently indicated for various autism spectrum disorder (ASD) manifestations; however, "actionable" PGx testing in psychiatry regarding antipsychotic dosing and selection has limited applications in routine clinical practice because of the lack of standard guidelines, mostly due to the inconsistency and scarcity of genetic variant data. The current study is aimed at examining the association of RIS effectiveness, according to ABC-CV and CGI indexes, with relevant pharmacokinetics (PK) and pharmacodynamics (PD) genes...
February 29, 2024: European Journal of Clinical Pharmacology
https://read.qxmd.com/read/38418939/correction-endophenotype-trait-domains-for-advancing-gene-discovery-in-autism-spectrum-disorder
#29
Matthew W Mosconi, Cassandra J Stevens, Kathryn E Unruh, Robin Shafer, Jed T Elison
No abstract text is available yet for this article.
February 28, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38418685/untargeted-metabolomic-and-proteomic-analysis-identifies-metabolic-biomarkers-and-pathway-alterations-in-individuals-with-22q11-2-deletion-syndrome
#30
JOURNAL ARTICLE
Marwa Zafarullah, Kathleen Angkustsiri, Austin Quach, Seungjun Yeo, Blythe P Durbin-Johnson, Heather Bowling, Flora Tassone
INTRODUCTION: The chromosome 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with a wide range of brain-related phenotypes including schizophrenia spectrum disorders (SCZ), autism spectrum disorders (ASD), anxiety disorders and attention deficit disorders (ADHD). The typically deleted region in 22q11.2DS contains multiple genes which haploinsufficiency has the potential of altering the protein and the metabolic profiles. OBJECTIVES: Alteration in metabolic processes and downstream protein pathways during the early brain development may help to explain the increased prevalence of the observed neurodevelopmental phenotypes in 22q11...
February 28, 2024: Metabolomics: Official Journal of the Metabolomic Society
https://read.qxmd.com/read/38418646/neurexin1%C3%AE-knockout-in-rats-causes-aberrant-social-behaviour-relevance-for-autism-and-schizophrenia
#31
JOURNAL ARTICLE
E J Marijke Achterberg, Barbara Biemans, Louk J M J Vanderschuren
RATIONALE: Genetic and environmental factors cause neuropsychiatric disorders through complex interactions that are far from understood. Loss-of-function mutations in synaptic proteins like neurexin1α have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), both characterised by problems in social behaviour. Childhood social play behaviour is thought to facilitate social development, and lack of social play may precipitate or exacerbate ASD and SCZ. OBJECTIVE: To test the hypothesis that an environmental insult acts on top of genetic vulnerability to precipitate psychiatric-like phenotypes...
February 29, 2024: Psychopharmacology
https://read.qxmd.com/read/38414498/corrigendum-ptchd1-gene-mutation-deletion-the-cognitive-behavioral-phenotyping-of-four-case-reports
#32
Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri
[This corrects the article DOI: 10.3389/fpsyt.2023.1327802.].
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38413544/crass-like-phages-from-discovery-in-human-fecal-metagenome-to-application-as-a-microbial-source-tracking-marker
#33
REVIEW
Arun Thachappully Remesh, Rajlakshmi Viswanathan
CrAss-like phages are a diverse group of bacteriophages genetically similar to the prototypical crAssphage (p-crAssphage), which was discovered in the human gut microbiome through a metagenomics approach. It was identified as a ubiquitous and highly abundant bacteriophage group in the gut microbiome. Initial co-occurrence analysis postulated Bacteroides spp. as the prospective bacterial host. Subsequent studies have confirmed multiple host species under Phylum Bacteroidetes and some Firmicutes. Detection of crAss-like phages in sewage-contaminated environmental water and robust correlation with enteric viruses and bacteria has culminated in their adoption as a microbial source tracking (MST) marker...
February 27, 2024: Food and Environmental Virology
https://read.qxmd.com/read/38412861/haploinsufficiency-of-zfhx3-encoding-a-key-player-in-neuronal-development-causes-syndromic-intellectual-disability
#34
JOURNAL ARTICLE
María Del Rocío Pérez Baca, Eva Z Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Chun-An Chen, Nurit Assia Batzir, Xia Wang, María Palomares, Marieke Carels, Bart Dermaut, Bekim Sadikovic, Björn Menten, Bo Yuan, Sarah Vergult, Bert Callewaert
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is a zinc-finger homeodomain transcription factor involved in various biological processes, including cell differentiation and tumorigenesis. We describe 42 individuals with protein-truncating variants (PTVs) or (partial) deletions of ZFHX3, exhibiting variable intellectual disability and autism spectrum disorder, recurrent facial features, relative short stature, brachydactyly, and, rarely, cleft palate...
February 26, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38412857/impaired-cerebellar-plasticity-hypersensitizes-sensory-reflexes-in-scn2a-associated-asd
#35
JOURNAL ARTICLE
Chenyu Wang, Kimberly D Derderian, Elizabeth Hamada, Xujia Zhou, Andrew D Nelson, Henry Kyoung, Nadav Ahituv, Guy Bouvier, Kevin J Bender
Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly to the negative aspects of the disorder. Here, we identify a mechanism that underlies hypersensitivity in a sensorimotor reflex found to be altered in humans and in mice with loss of function in the ASD risk-factor gene SCN2A. The cerebellum-dependent vestibulo-ocular reflex (VOR), which helps maintain one's gaze during movement, was hypersensitized due to deficits in cerebellar synaptic plasticity...
February 21, 2024: Neuron
https://read.qxmd.com/read/38411241/sparking-new-insight-into-autism-across-the-lifespan
#36
JOURNAL ARTICLE
Khemika K Sudnawa, Wendy K Chung
Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and individuals with genetically defined neurodevelopmental conditions around the world, respectively. They both provide freely available phenotypic and genotypic data with the ability to re-contact participants through the research match program...
March 1, 2024: American Journal on Intellectual and Developmental Disabilities
https://read.qxmd.com/read/38410689/identification-and-analysis-of-zic-related-genes-in-cerebellum-of-autism-spectrum-disorders
#37
JOURNAL ARTICLE
Heli Li, Jinru Cui, Cong Hu, Hao Li, Xiaoping Luo, Yan Hao
OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic heterogeneity. The ZIC gene family can regulate neurodevelopment, especially in the cerebellum, and has been implicated in ASD-like behaviors in mice. We performed bioinformatic analysis to identify the ZIC gene family in the ASD cerebellum. METHODS: We explored the roles of ZIC family genes in ASD by investigating (i) the association of ZIC genes with ASD risk genes from the Simons Foundation Autism Research Initiative (SFARI) database and ZIC genes in the brain regions of the Human Protein Atlas (HPA) database; (ii) co-expressed gene networks of genes positively and negatively correlated with ZIC1, ZIC2, and ZIC3, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, and receiver operating characteristic (ROC) curve analysis of genes in these networks; and (iii) the relationship between ZIC1, ZIC2, ZIC3, and their related genes with cerebellar immune cells and stromal cells in ASD patients...
2024: Neuropsychiatric Disease and Treatment
https://read.qxmd.com/read/38410675/a-bibliometric-analysis-of-autism-spectrum-disorder-signaling-pathways-research-in-the-past-decade
#38
JOURNAL ARTICLE
Kaifeng Lyu, Jiangshan Li, Min Chen, Wu Li, Wei Zhang, Meichao Hu, Yuxing Zhang, Xiang Feng
BACKGROUND: This study employs bibliometric methods to comprehensively understand the fundamental structure of research about Autism Spectrum Disorder (ASD) Signaling Pathways by examining key indicators such as nations, institutions, journals, authors, and keywords. METHODOLOGY: We utilized the WoScc database to retrieve literature relevant to ASD Signaling Pathways published between 2013 and 2023. Through visual analysis and tools like CiteSpace and VosViewer, we explored nations, institutions, journals, authors, and keywords, thereby constructing relevant networks...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38409228/whole-exome-sequencing-in-uk-biobank-reveals-rare-genetic-architecture-for-depression
#39
JOURNAL ARTICLE
Ruoyu Tian, Tian Ge, Hyeokmoon Kweon, Daniel B Rocha, Max Lam, Jimmy Z Liu, Kritika Singh, Daniel F Levey, Joel Gelernter, Murray B Stein, Ellen A Tsai, Hailiang Huang, Christopher F Chabris, Todd Lencz, Heiko Runz, Chia-Yen Chen
Nearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS). However, the impact of rare coding variants on depression remains poorly understood. Here, we present whole-exome sequencing analyses of depression with seven different definitions based on survey, questionnaire, and electronic health records in 320,356 UK Biobank participants. We showed that the burden of rare damaging coding variants in loss-of-function intolerant genes is significantly associated with risk of depression with various definitions...
February 26, 2024: Nature Communications
https://read.qxmd.com/read/38409192/polygenic-risk-for-major-depression-attention-deficit-hyperactivity-disorder-neuroticism-and-schizophrenia-are-correlated-with-experience-of-intimate-partner-violence
#40
JOURNAL ARTICLE
Andrew Ratanatharathorn, Luwei Quan, Karestan C Koenen, Lori B Chibnik, Marc G Weisskopf, Natalie Slopen, Andrea L Roberts
Research has suggested that mental illness may be a risk factor for, as well as a sequela of, experiencing intimate partner violence (IPV). The association between IPV and mental illness may also be due in part to gene-environment correlations. Using polygenic risk scores for six psychiatric disorders - attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), neuroticism, and schizophrenia-and a combined measure of overall genetic risk for mental illness, we tested whether women's genetic risk for mental illness was associated with the experience of three types of intimate partner violence...
February 26, 2024: Translational Psychiatry
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