[HTML][HTML] Pre-autism: What a paediatrician should know about early diagnosis of autism‎

M Al-Beltagi - World journal of clinical pediatrics, 2023 - ncbi.nlm.nih.gov
Autism, also known as an autism spectrum disorder, is a complex neurodevelopmental
disorder usually diagnosed in the first three years of a child's life. A range of symptoms …

Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations

S Kilpatrick, C Irwin, KK Singh - Translational Psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by
genetic or environmental perturbations during early development. Diagnoses are dependent …

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11. 2 locus

KP O'Hora, L Kushan‐Wells, CH Schleifer… - Autism …, 2023 - Wiley Online Library
Rare genetic variants that confer large effects on neurodevelopment and behavioral
phenotypes can reveal novel gene‐brain‐behavior relationships relevant to autism. Copy …

A Hypothesis: Metabolic Contributions to 16p11. 2 Deletion Syndrome

BKM Choo, S Barnes, H Sive - BioEssays, 2024 - Wiley Online Library
ABSTRACT 16p11. 2 deletion syndrome is a severe genetic disorder associated with the
deletion of 27 genes from a Copy Number Variant region on human chromosome 16 …

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

F Mastropasqua, M Oksanen, C Soldini… - Biology …, 2023 - journals.biologists.com
ABSTRACT Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U
(HNRNPU) have been identified in several neurodevelopmental disorders (NDDs) …

Reply to: “Correspondence to bipolar disorder-iPSC derived neural progenitor cells exhibit dysregulation of store-operated Ca2+ entry and accelerated differentiation …

T Hewitt, B Alural, N Becke, SD Sheridan… - Molecular …, 2024 - nature.com
We appreciate the opportunity to respond to Yde Ohki and colleagues' commentary [1] on
our recent publication [2]. We agree with the authors that sufficient and accurate information …

16p11. 2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids

R Fetit, MI Barbato, T Theil, T Pratt, DJ Price - Development, 2023 - journals.biologists.com
Inhibitory interneurons regulate cortical circuit activity, and their dysfunction has been
implicated in autism spectrum disorder (ASD). 16p11. 2 microdeletions are genetically …

Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential of iPS cell technology

Y Arioka, H Okumura, H Sakaguchi… - Psychiatry and Clinical …, 2023 - Wiley Online Library
Mental disorders are considered as one of the major healthcare issues worldwide owing to
their significant impact on the quality of life of patients, causing serious social burdens …

Altered hippocampal neurogenesis in a mouse model of autism revealed by genetic polymorphisms and by atypical development of newborn neurons

I Barón-Mendoza, M Mejía-Hernández… - Scientific Reports, 2024 - nature.com
Individuals with autism spectrum disorder (ASD) often exhibit atypical hippocampal anatomy
and connectivity throughout their lifespan, potentially linked to alterations in the neurogenic …

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion

Y Yang, SA Booker, JM Clegg, I Quintana-Urzainqui… - BMC neuroscience, 2023 - Springer
Background Autism spectrum condition or 'autism'is associated with numerous genetic risk
factors including the polygenic 16p11. 2 microdeletion. The balance between excitatory and …