Autism spectrum disorder: neurodevelopmental risk factors, biological mechanism, and precision therapy
L Wang, B Wang, C Wu, J Wang, M Sun - International journal of …, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined
neurodevelopmental disorder. Over the past two decades, the prevalence of autism …
neurodevelopmental disorder. Over the past two decades, the prevalence of autism …
[HTML][HTML] Copy number variation and neuropsychiatric illness
E Rees, G Kirov - Current Opinion in Genetics & Development, 2021 - Elsevier
Copy number variants (CNVs) at specific loci have been identified as important risk factors
for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder …
for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder …
Multiplexing cortical brain organoids for the longitudinal dissection of developmental traits at single-cell resolution
Dissecting human neurobiology at high resolution and with mechanistic precision requires a
major leap in scalability, given the need for experimental designs that include multiple …
major leap in scalability, given the need for experimental designs that include multiple …
Oxidative stress and neurodegeneration: Interconnected processes in polyq diseases
I Gkekas, A Gioran, MK Boziki, N Grigoriadis… - Antioxidants, 2021 - mdpi.com
Neurodegenerative polyglutamine (polyQ) disorders are caused by trinucleotide repeat
expansions within the coding region of disease-causing genes. PolyQ-expanded proteins …
expansions within the coding region of disease-causing genes. PolyQ-expanded proteins …
Structural variation at a disease mutation hotspot: Strategies to investigate gene regulation and the 3D genome
A Boyling, G Perez-Siles, ML Kennerson - Frontiers in Genetics, 2022 - frontiersin.org
A rare form of X-linked Charcot-Marie-Tooth neuropathy, CMTX3, is caused by an
interchromosomal insertion occurring at chromosome Xq27. 1. Interestingly, eight other …
interchromosomal insertion occurring at chromosome Xq27. 1. Interestingly, eight other …
Psychiatric genomics, mental health equity, and intersectionality: A framework for research and practice
The causal mechanisms and manifestations of psychiatric illness cannot be neatly narrowed
down or quantified for diagnosis and treatment. Large-scale genome-wide association …
down or quantified for diagnosis and treatment. Large-scale genome-wide association …
Duplication Versus Deletion Through the Lens of 15q13. 3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric …
Copy number variants (CNVs), involving duplication or deletion of susceptible intervals of
the human genome, underlie a range of neurodevelopmental and neuropsychiatric …
the human genome, underlie a range of neurodevelopmental and neuropsychiatric …
[HTML][HTML] A critical review of the impact of candidate copy number variants on autism spectrum disorder
SS Abedini, S Akhavantabasi, Y Liang, J Heng… - … Research-Reviews in …, 2024 - Elsevier
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder (NDD)
influenced by genetic, epigenetic, and environmental factors. Recent advancements in …
influenced by genetic, epigenetic, and environmental factors. Recent advancements in …
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
P Granata, A Zito, D Cocciadiferro, A Novelli, C Pessina… - BMC genomics, 2024 - Springer
Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component and high heterogeneity. Essential ASD refers to patients who do not have other …
component and high heterogeneity. Essential ASD refers to patients who do not have other …
Loss-of-function mutations of CUL3, a high confidence gene for psychiatric disorders, Lead to aberrant neurodevelopment in human induced pluripotent stem cells
S Fischer, I Schlotthauer, V Kizner, T Macartney… - Neuroscience, 2020 - Elsevier
Both rare, high risk, loss-of-function mutations and common, low risk, genetic variants in the
CUL3 gene are strongly associated with neuropsychiatric disorders. Network analyses of …
CUL3 gene are strongly associated with neuropsychiatric disorders. Network analyses of …