The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Table 1 summarizes the association between genetic variants of autophagy-related genes and selected human diseases. (nature.com)
Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
Thus, we define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission. (sdbonline.org)
Using genetic screens, we compared metabolic genes essential for proliferation upon inhibition of cystine uptake or glutathione peroxidase-4 (GPX4). (biomed.news)
Identified gene1
Here, we have performed a prospective nationwide genetic association study using the Human Exome BeadChip and identified gene variants in encoding dynactin 4 ( DCTN4 ), retinoic acid early transcript 1E ( RAET1E ), and V-akt murine thymoma viral oncogene homolog 3 ( AKT3 ) to be associated with unfavourable outcome in patients with pneumococcal meningitis. (biomedcentral.com)
Variants2
We validated the algorithm's predictions by characterizing 646 genetic system variants, encoded in plasmids and genomes, expressed in six gram-positive and gram-negative bacterial hosts. (omictools.com)
In recent years, thanks to the study of genetic variants, significant information associated with the prognosis and clinical course of glioma has been acquired. (frontiersin.org)
Clinical5
Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. (neurotransmitter.net)
Repeat diseases show atypical clinical features, genetic anticipation, and multiple and partially penetrant phenotypes among family members. (bvsalud.org)
Recent and historical lessons reveal that properly assessed clinical presentations, coupled with genetic and biological awareness, can guide discovery of disease-causing unstable TRs. (bvsalud.org)
We discuss the expanding field of disease-associated TR instabilities, highlighting prospects, clinical and genetic clues, tools, and challenges for further discoveries of disease-causing TR instabilities and understanding their biological and pathological impacts-a vista that is about to expand. (bvsalud.org)
Since then, basic and clinical researchers in epilepsy have gathered together about every 14 years to assess where epilepsy research has been, what it has accomplished, and where it should go. (nih.gov)
Tumor4
Since 1991, we found that the middle part of the 3â UTR of the human nuclear factor for interleukin-6 (NF-IL6) or C/EBP gene exerted tumor suppression effect in vivo. (omicsonline.org)
Also, it was shown that the sequences near the termini of the C/EBP 3â UTR were important for its tumor suppression activity. (omicsonline.org)
Recently, an AU-rich region in the C/EBP 3â UTR was found also to be responsible for its tumor suppression. (omicsonline.org)
Through 1990â s to 2000â s, world scientists found several 3â UTR RNAs that functioned as artificial independent RNAs in cancer cells and resulted in tumor suppression. (omicsonline.org)
Genome1
With the completion of the Human Genome Project in 2003 and the International HapMap Project in 2005, researchers now have a powerful set of research tools, including the high-speed DNA sequencing technology that make it possible to identify the genetic contributions to specific diseases, even if they are rare. (nature.com)
Developmental1
It is often associated with other conditions, such as disorders of the CNS (tuberous sclerosis), developmental delay, attention deficit, epilepsy, and anxiety and mood disorders. (neurotransmitter.net)
Therapeutic1
and (5) for the first time in the Jasper's series describes the current efforts to translate the discoveries in epilepsy disease mechanisms into new therapeutic strategies. (nih.gov)
Interact2
This study identified a set of common phenotypic modifiers that interact with five independent autism gene orthologs [RIMS1 ( Rim ), CHD8 ( Kismet ), CHD2 ( Chd1 ), WDFY3 ( Blue cheese ), ASH1L ( ASH1 )] causing a common failure of presynaptic homeostatic plasticity (PHP) in Drosophila. (sdbonline.org)
A subsequent electrophysiology-based genetic screen identifies the first known heterozygous mutations that commonly genetically interact with multiple ASD gene orthologs, causing PHP to fail. (sdbonline.org)
Researchers2
In order to evaluate the impact of genotype-by-Vit D interactions on EAE susceptibility, the researchers used a chromosome substitution mouse model (consomic) that involved the genetic diversity of wild-derived PWD/PhJ (PWD) mice. (ajmc.com)
The study also explained that the role of Vit D in MS remains unclear and the researchers' future studies will be aimed at identifying genetic modifiers of the Vit D response in CNS autoimmunity. (ajmc.com)
Experimental1
Suppression of experimental allergic neuritis by an antibody to the intracellular adhesion molecule ICAM-1. (2medicalcare.com)
Identifies1
Altogether, our work identifies the mechanism by which BH4 acts as an endogenous antioxidant and provides a compendium of metabolic modifiers of lipid peroxidation. (biomed.news)
Diseases2
Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic pathology. (wikipedia.org)
Thus, it has become particularly important to understand the genetic basis of putative human autophagy-related diseases. (nature.com)
Disease3
Protein interactomes of RPA and Alt-RPA reveal unique and shared partners, including modifiers of CAG instability and disease presentation. (bvsalud.org)
These findings suggest a functional interplay between the two RPAs where Alt-RPA may antagonistically offset RPA's suppression of disease-associated repeat expansions, which may extend to other DNA processes. (bvsalud.org)
Dentatorubral-pallidoluysian atrophy (DRPLA) is a devastating genetic disease presenting myoclonus, epilepsy, ataxia, and dementia. (bvsalud.org)
Suggests1
however, this correlation is present in white populations and not in other ethnic groups, which suggests a genetic component. (ajmc.com)
Autism1
OBJECTIVE: Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder. (neurotransmitter.net)
Study1
Furthermore, EAE protection was accompanied by sex- and genotype-specific suppression of proinflammatory transcriptional programs in CD4 T effector cells, yet not CD4 regulatory T cells, according to the study. (ajmc.com)
Environmental factors1
Their underlying causes are extremely variable and complicated by various genetic and/or environmental factors. (wikipedia.org)
Understand1
Developing predictive models of multi-protein genetic systems to understand and optimize their behavior remains a combinatorial challenge, particularly when measurement throughput is limited. (omictools.com)
Treatment1
In a foreword written for the second edition of Basic Mechanisms of the Epilepsies, published in 1983, Jasper reminded us that the original and ultimate goal of the Public Health Service committee was to search for a "better understanding of the epilepsies and seek more rational methods of their prevention and treatment. (nih.gov)
Cognitive1
Modifiers of H3K4 methylation are needed for memory formation, shown through animal studies, and many of the same modifiers are mutated in human cognitive diseases. (biomedcentral.com)
Etiology1
The causes of autism and autism spectrum disorder (collectively, ASD) remain unknown, in part because of complex behavioral phenotypes and the likelihood that multiple genetic and environmental factors contribute to its etiology [ 1 - 3 ]. (hindawi.com)
Molecular3
Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic pathology. (wikipedia.org)
Prenatal testing by molecular genetic testing and preimplantation genetic testing are possible. (nih.gov)
The diagnosis of HD is established in a proband with clinical signs and symptoms of HD by the identification of a heterozygous abnormal CAG trinucleotide repeat expansion in HTT by molecular genetic testing (see Table 1 ). (nih.gov)
Disorder2
Predictive testing in asymptomatic adults at risk is available but requires careful thought (including pre- and post-test genetic counseling ) as there is currently no cure for the disorder. (nih.gov)
Researchers from Pfizer Global Research and Development, 23andMe, and the Massachusetts General Hospital have published a study in Nature Genetics, pinpointing 15 genetic loci associated with the risk of developing major depressive disorder (MDD) in individuals of European ancestry. (pharmaceuticalintelligence.com)
Medications1
Presently, most medications used to treat these patients rely on suppression of the immune system and have a high potential for side effects. (unc.edu)
Patients1
BACKGROUND: Valproate-induced encephalopathy (VIE) affects between 0.1% and 2.5% of patients under long-term epilepsy treatment. (bvsalud.org)
Multiple1
Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis. (namswlab.com)