[HTML][HTML] Genetics of autism spectrum disorder: current status and possible clinical applications

H Yoo - Experimental neurobiology, 2015 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is one of the most complex behavioral disorders with a
strong genetic influence. The objectives of this article are to review the current status of …

Functions of the Alzheimer's disease protease BACE1 at the synapse in the central nervous system

KM Munro, A Nash, M Pigoni, SF Lichtenthaler… - Journal of Molecular …, 2016 - Springer
Inhibition of the protease β-site amyloid precursor protein-cleaving enzyme 1 (BACE1) is a
promising treatment strategy for Alzheimer's disease, and a number of BACE inhibitors are …

Shared genetic background between children and adults with attention deficit/hyperactivity disorder

P Rovira, D Demontis, C Sánchez-Mora… - …, 2020 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder
characterized by age-inappropriate symptoms of inattention, impulsivity, and hyperactivity …

Genomic regions associated with interspecies communication in dogs contain genes related to human social disorders

ME Persson, D Wright, LSV Roth, P Batakis… - Scientific reports, 2016 - nature.com
Unlike their wolf ancestors, dogs have unique social skills for communicating and
cooperating with humans. Previously, significant heritabilities for human-directed social …

The Sez6 family inhibits complement by facilitating factor I cleavage of C3b and accelerating the decay of C3 convertases

WQ Qiu, S Luo, SA Ma, P Saminathan, H Li… - Frontiers in …, 2021 - frontiersin.org
The Sez6 family consists of Sez6, Sez6L, and Sez6L2. Its members are expressed
throughout the brain and have been shown to influence synapse numbers and dendritic …

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

R Yousaf, C Gu, ZM Ahmed, SN Khan… - PLoS …, 2018 - journals.plos.org
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder.
Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on …

Customized MethylC-capture sequencing to evaluate variation in the human sperm DNA methylome representative of altered folate metabolism

D Chan, X Shao, MC Dumargne… - Environmental …, 2019 - ehp.niehs.nih.gov
Background: The sperm DNA methylation landscape is unique and critical for offspring
health. If gamete-derived DNA methylation escapes reprograming in early embryos …

Next generation sequencing mitochondrial DNA analysis in autism spectrum disorder

A Patowary, R Nesbitt, M Archer, R Bernier… - Autism …, 2017 - Wiley Online Library
Autism is a complex genetic disorder where both de‐novo and inherited genetics factors
play a role. Next generation sequencing approaches have been extensively used to identify …

DIP2C polymorphisms are implicated in susceptibility and clinical phenotypes of autism spectrum disorder

Y Li, C Sun, Y Guo, S Qiu, Y Li, Y Liu, W Zhong… - Psychiatry …, 2022 - Elsevier
Background Disco-interacting protein 2 C (DIP2C) has recently been reported as a new
susceptibility gene for autism spectrum disorder (ASD) in a genome-wide association study …

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes

S Ganesh, H Ahmed P, RK Nadella… - Psychiatry and …, 2019 - Wiley Online Library
Aim Severe mental illnesses (SMI), such as bipolar disorder and schizophrenia, are highly
heritable, and have a complex pattern of inheritance. Genome‐wide association studies …