Molecular Autism

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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
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
The Comprehensive Autistic Trait Inventory (CATI): development and validation of a new measure of autistic traits in the general population
Molecular Autism - - 2021
Michael C. W. English, Gilles E. Gignac, Troy A. W. Visser, Andrew J. O. Whitehouse, James T. Enns, Murray T. Maybery
Traits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use in autism research, several questionnaires have been developed that provide broad measures of autistic traits [e.g. Autism-Spectrum Quotient (AQ), Broad Autism Phenotype Questionnaire (BAPQ)]...... hiện toàn bộ
Aberrant functioning of the theory-of-mind network in children and adolescents with autism
Molecular Autism - Tập 6 - Trang 1-12 - 2015
Rajesh K. Kana, Jose O. Maximo, Diane L. Williams, Timothy A. Keller, Sarah E. Schipul, Vladimir L. Cherkassky, Nancy J. Minshew, Marcel Adam Just
Theory-of-mind (ToM), the ability to infer people’s thoughts and feelings, is a pivotal skill in effective social interactions. Individuals with autism spectrum disorders (ASD) have been found to have altered ToM skills, which significantly impacts the quality of their social interactions. Neuroimaging studies have reported altered activation of the ToM cortical network, especially in adults with ...... hiện toàn bộ
Sanh sinh cực kỳ sớm và đặc điểm tự kỷ trong tuổi trưởng thành: nghiên cứu EPICure Dịch bởi AI
Molecular Autism - Tập 12 - Trang 1-12 - 2021
Helen O’Reilly, Yanyan Ni, Samantha Johnson, Dieter Wolke, Neil Marlow
Tỷ lệ cao của rối loạn phổ tự kỷ được báo cáo ở trẻ em sinh cực kỳ sớm (EP), nhưng một tỷ lệ lớn hơn nhiều các trường hợp sống sót lại gặp phải những khó khăn tiềm ẩn không đáp ứng tiêu chuẩn chẩn đoán. Mục tiêu của nghiên cứu này là điều tra các đặc điểm tự kỷ liên quan đến kiểu hình tự kỷ rộng hơn trong một nhóm người trưởng thành trẻ tuổi sinh EP, và khám phá cách những đặc điểm này liên quan đ...... hiện toàn bộ
#tự kỷ #sinh cực kỳ sớm #kiểu hình tự kỷ rộng hơn #nhận diện cảm xúc #sự đồng cảm #triệu chứng tự kỷ
Large multicenter randomized trials in autism: key insights gained from the balovaptan clinical development program
Molecular Autism - - 2022
Suma Jacob, Evdokia Anagnostou, Eric Hollander, Roger J. Jou, Nora McNamara, Linmarie Sikich, Russell H. Tobe, Declan Murphy, James T. McCracken, Elizabeth Ashford, Chris Chatham, Susanne Clinch, Janice Smith, Kevin Sanders, Lorraine Murtagh, Jana Noeldeke, Jeremy Veenstra‐VanderWeele
Abstract Background Autism spectrum disorder (ASD) is a common and heterogeneous neurodevelopmental condition that is characterized by the core symptoms of social communication difficulties and restricted and repetitive behaviors. At present, there is an unmet medical need for therapies to ameliorat...... hiện toàn bộ
Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development
Molecular Autism - Tập 12 - Trang 1-21 - 2021
Shaun Hurley, Conor Mohan, Philipp Suetterlin, Robert Ellingford, Kimberley L. H. Riegman, Jacob Ellegood, Angela Caruso, Caterina Michetti, Olivier Brock, Romy Evans, Fabrizio Rudari, Alessio Delogu, Maria Luisa Scattoni, Jason P. Lerch, Cathy Fernandes, M. Albert Basson
CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the embryonic neocortex. The purpose of this study was to generate new, sub-haploinsufficient Chd8 mouse models to allow us to identify and study the functions of CHD8 during embryonic cortical d...... hiện toàn bộ
Differential recruitment of coregulators to the RORA promoter adds another layer of complexity to gene (dys) regulation by sex hormones in autism
Molecular Autism - Tập 4 - Trang 1-17 - 2013
Tewarit Sarachana, Valerie W Hu
Our independent cohort studies have consistently shown the reduction of the nuclear receptor RORA (retinoic acid-related orphan receptor-alpha) in lymphoblasts as well as in brain tissues from individuals with autism spectrum disorder (ASD). Moreover, we have found that RORA regulates the gene for aromatase, which converts androgen to estrogen, and that male and female hormones regulate RORA in op...... hiện toàn bộ
Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts
Molecular Autism - Tập 12 - Trang 1-18 - 2021
Brooke G. McKenna, Yongchao Huang, Kévin Vervier, Dabney Hofammann, Mary Cafferata, Seima Al-Momani, Florencia Lowenthal, Angela Zhang, Jin-Young Koh, Savantha Thenuwara, Leo Brueggeman, Ethan Bahl, Tanner Koomar, Natalie Pottschmidt, Taylor Kalmus, Lucas Casten, Taylor R. Thomas, Jacob J. Michaelson
Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) display a strong male bias. Androgen exposure is profoundly increased in typical male development, but it also varies within the sexes, and previous work has sought to connect morphological proxies of androgen exposure, including digit ratio and facial morphology, to neurodevelopmental outcomes. The results of these studies...... hiện toàn bộ
Support for calcium channel gene defects in autism spectrum disorders
Molecular Autism - Tập 3 Số 1 - 2012
Ake T. Lu, Xiaoxian Dai, Julian A. Martinez‐Agosto, Rita M. Cantor
Abstract Background Alternation of synaptic homeostasis is a biological process whose disruption might predispose children to autism spectrum disorders (ASD). Calcium channel genes (CCG) contribute to modulating neuronal function and evidence implicating CCG in ASD has been accumulating. We condu...... hiện toàn bộ
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