Molecular Autism

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Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome
Molecular Autism - Tập 5 - Trang 1-10 - 2014
Hannah Steeb, Jordan M Ramsey, Paul C Guest, Pawel Stocki, Jason D Cooper, Hassan Rahmoune, Erin Ingudomnukul, Bonnie Auyeung, Liliana Ruta, Simon Baron-Cohen, Sabine Bahn
The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum. Here, we analysed sera from adults diagnosed with AS (males = 14, females = 16) and controls (males = 13, females = 16) not on medicati...... hiện toàn bộ
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Molecular Autism - Tập 10 - Trang 1-15 - 2019
Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in P...... hiện toàn bộ
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
Molecular Autism - - 2017
Rui Chen, Lea K. Davis, Stephen Guter, Qiang Wei, Suma Jacob, Melissa H. Potter, Nancy J. Cox, Edwin H. Cook, James S. Sutcliffe, Bingshan Li
Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., eleva...... hiện toàn bộ
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Molecular Autism - Tập 5 - Trang 1-10 - 2014
Holly N Cukier, Nicole D Dueker, Susan H Slifer, Joycelyn M Lee, Patrice L Whitehead, Eminisha Lalanne, Natalia Leyva, Ioanna Konidari, Ryan C Gentry, William F Hulme, Derek Van Booven, Vera Mayo, Natalia K Hofmann, Michael A Schmidt, Eden R Martin, Jonathan L Haines, Michael L Cuccaro, John R Gilbert, Margaret A Pericak-Vance
Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Despite overwhelming evidence of high heritability, results from genetic studies to date show that ASD etiology is extremely heterogeneous and only a fraction of autism genes have been discovered...... hiện toàn bộ
Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
Molecular Autism - Tập 4 - Trang 1-4 - 2013
Ozlem Bozdagi, Teresa Tavassoli, Joseph D Buxbaum
Haploinsufficiency of SHANK3, due to either hemizygous gene deletion (termed 22q13 deletion syndrome or Phelan-McDermid syndrome) or to gene mutation, accounts for about 0.5% of the cases of autism spectrum disorder (ASD) and/or developmental delay, and there is evidence for a wider role for SHANK3 and glutamate signaling abnormalities in ASD and related conditions. Therapeutic approaches that rev...... hiện toàn bộ
Genome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder
Molecular Autism - Tập 4 - Trang 1-19 - 2013
Tewarit Sarachana, Valerie W Hu
We have recently identified the nuclear hormone receptor RORA (retinoic acid-related orphan receptor-alpha) as a novel candidate gene for autism spectrum disorder (ASD). Our independent cohort studies have consistently demonstrated the reduction of RORA transcript and/or protein levels in blood-derived lymphoblasts as well as in the postmortem prefrontal cortex and cerebellum of individuals with A...... hiện toàn bộ
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Molecular Autism - Tập 12 - Trang 1-17 - 2021
Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski, Jian Zeng, Yuanhao Yang, Dominique Cleary, Rachel Grove, Claire Hafekost, Alexis Harun, Helen Holdsworth, Rachel Jellett, Feroza Khan, Lauren Lawson, Jodie Leslie, Mira Levis Frenk, Anne Masi, Nisha E. Mathew, Melanie Muniandy, Michaela Nothard, Peter M. Visscher, Paul A. Dawson, Cheryl Dissanayake, Valsamma Eapen, Helen S. Heussler, Andrew J. O. Whitehouse, Naomi R. Wray, Jacob Gratten
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. Genome-wide single-nucleotide polymorphism genoty...... hiện toàn bộ
Is social camouflaging associated with anxiety and depression in autistic adults?
Molecular Autism - Tập 12 Số 1
Laura Hull, L. Lévy, Meng‐Chuan Lai, K. V. Petrides, Simon Baron‐Cohen, Carrie Allison, Paula Smith, William Mandy
Abstract Background There is inconsistent evidence for a clear pattern of association between ‘camouflaging’ (strategies used to mask and/or compensate for autism characteristics during social interactions) and mental health. M...... hiện toàn bộ
Autistic traits and individual brain differences: functional network efficiency reflects attentional and social impairments, structural nodal efficiencies index systemising and theory-of-mind skills
Molecular Autism - Tập 12 Số 1 - 2021
Subhadip Paul, Aditi Arora, Rashi Midha, Dinh Vu, Prasun K. Roy, Matthew K. Belmonte
Abstract Background Autism is characterised not only by impaired social cognitive ‘empathising’ but also by superior rule-based ‘systemising’. These cognitive domains intertwine within the categorical diagnosis of autism, yet behavioural genetics suggest largely independent heritability, and separab...... hiện toàn bộ
Sex-specific and sex-independent steroid-related biomarkers in early second trimester maternal serum associated with autism
Molecular Autism - Tập 14 - Trang 1-12 - 2023
Deborah A. Bilder, Whitney Worsham, Scott Sullivan, M. Sean Esplin, Paul Burghardt, Alison Fraser, Amanda V. Bakian
Prenatal exposure to maternal metabolic conditions associated with inflammation and steroid dysregulation has previously been linked to increased autism risk. Steroid-related maternal serum biomarkers have also provided insight into the in utero steroid environment for offspring who develop autism. This study examines the link between autism among offspring and early second trimester maternal ster...... hiện toàn bộ
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