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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors....
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NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest
AbstractSuccessful human reproduction requires normal oocyte maturation, fertilization, and early embryo development. Early embryo arrest is a common...
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
BackgroundBeckwith–Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the...
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The role of microglia in early neurodevelopment and the effects of maternal immune activation
Activation of the maternal immune system during gestation has been associated with an increased risk for neurodevelopmental disorders in the...
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
BackgroundPADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is...
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Biased Expression of Parental Alleles in the Human Placenta
The biased expression of parental alleles plays a fundamental role in the formation of the placenta as a multifunctional organ necessary for the...
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Linking Inflammation, Aberrant Glutamate-Dopamine Interaction, and Post-synaptic Changes: Translational Relevance for Schizophrenia and Antipsychotic Treatment: a Systematic Review
Evidence from clinical, preclinical, and post-mortem studies supports the inflammatory/immune hypothesis of schizophrenia pathogenesis. Less evident...
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
BackgroundImprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent...
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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in...
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Mitochondrial Dysfunction in Autism Spectrum Disorders
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a wide variation in the type and severity of symptoms. Commonly,...
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Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
Numerous large scale genomic studies have uncovered rare but recurrent pathogenetic variants in a significant number of genes encoding epigenetic...
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
BackgroundImprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially...
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Auditory processing in rodent models of autism: a systematic review
Autism is a complex condition with many traits, including differences in auditory sensitivity. Studies in human autism are plagued by the difficulty...
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Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Childhood-onset systemic lupus erythematosus (cSLE) patients are unique, with hallmarks of Mendelian disorders (early-onset and severe disease) and...
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A Potential Role for Neuroinflammation in ADHD
Attention deficit hyperactivity disorder (ADHD) is a neurobehavioural disorder in children and adolescents. Although increases in oxidative stress...
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Endophenotype trait domains for advancing gene discovery in autism spectrum disorder
Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a...
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Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome
Leigh syndrome (LS) and Leigh-like spectrum are the most common infantile mitochondrial disorders characterized by heterogeneous neurologic and...
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Maternal Immune Activation and Neuropsychiatric Disorders: The Intricate Puzzle of Autism Spectrum Disorder
Pregnancy is a complex phenomenon in which several physiological changes are orchestrated to provide appropriate fetal development. In this context,...
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Home language and literacy environment and its relationship to socioeconomic status and white matter structure in infancy
The home language and literacy environment (HLLE) in infancy has been associated with subsequent pre-literacy skill development and HLLE at...
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Epigenetics
In this chapter, we introduce epigenetics to understand the mechanism of the transgenerational inheritance of chemical toxicity. First, we see that...