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The deficits of mammography and the potential of noninvasive diagnostic testing using circulating miRNA profiles are presented in our first review article. Exosomes are important in the transfer of genetic information. The current knowledge on exosome-associated DNAs and on vesicle-associated DNAs and their role in pregnancy-related complications is presented in the next article. The major obstacle is the lack of a standardized technique for the isolation and measurement of exosomes. One review has summarized the latest results on cell-free nucleic acids in inflammatory bowel disease (IBD). Despite the extensive research, the etiology and exact pathogenesis are still unclear, although similarity to the cell-free ribonucleic acids (cfRNAs) observed in other autoimmune diseases seems to be relevant in IBD. Liquid biopsy is a useful tool for the differentiation of leiomyomas and sarcomas in the corpus uteri. One manuscript has collected the most important knowledge of mesenchymal uterine tumors and shows the benefits of noninvasive sampling. Microchimerism has also recently become a hot topic. It is discussed in the context of various forms of transplantation and transplantation-related advanced therapies, the available cell-free nucleic acid (cfNA) markers, and the detection platforms that have been introduced. Ovarian cancer is one of the leading serious malignancies among women, with a high incidence of mortality; the introduction of new noninvasive diagnostic markers could help in its early detection and treatment monitoring. Epigenetic regulation is very important during the development of diseases and drug resistance. Methylation changes are important signs during ovarian cancer development, and it seems that the CDH1 gene is a potential candidate for being a noninvasive biomarker in the diagnosis of ovarian cancer. Preeclampsia is a mysterious disease—despite intensive research, the exact details of its development are unknown. It seems that cell-free nucleic acids could serve as biomarkers for the early detection of this disease. Three research papers deal with the prenatal application of cfDNA. Copy number variants (CNVs) are important subjects for the study of human genome variations, as CNVs can contribute to population diversity and human genetic diseases. These are useful in NIPT as a source of population specific data. The reliability of NIPT depends on the accurate estimation of fetal fraction. Improvement in the success rate of in vitro fertilization (IVF) and embryo transfer (ET) is an important goal. The measurement of embryo-specific small noncoding RNAs in culture media could improve the efficiency of ET.

n/a --- screening --- single nucleotide polymorphism --- predictive and preventive approach --- PTEN --- cell-free DNAs --- fetal fraction --- gestational hypertension --- RASSF1 --- CDH1 --- RT-PCR --- cfDNA --- statistical models --- hematopoietic stem cell transplantation --- NanoString --- solid organ transplantation --- copy number variants --- sarcomas --- liquid biopsy --- obesity --- fetal DNA --- neutrophil extracellular traps --- mammography --- non-invasive prenatal testing --- ovarian cancer --- circulating miRNA --- pyrosequencing --- growth retardation --- preeclampsia --- gestational diabetes mellitus --- biomarker --- inflammatory bowel disease --- multi-level diagnostics --- PAX1 --- population study --- nuclease activity --- NETosis --- omics --- piRNA --- cell-free DNA --- prediction --- leiomyosarcomas --- network analysis --- NGS --- statistical methods --- circulating nucleic acids --- deletion/insertion polymorphism --- gender differences --- leiomyomas --- fetal growth restriction --- blood plasma --- exosomes --- miRNA --- pregnancy-related complications --- NIPT --- genetic marker --- cell-free nucleic acids --- extracellular vesicles --- expression --- next generation sequencing --- breast cancer --- individualized patient profile --- circulating tumor cells --- maternal serum screening --- personalized medicine --- embryo culture medium --- C19MC microRNA --- DNA --- cell-free RNAs --- z-score --- fetal cells --- microchimerism --- aging --- plasma

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The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.

Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- autism spectrum disorders (ASD) --- cancer --- overlapping genes and gene profiling --- super-pathways --- phenotypes and diseases --- molecular functions and processes --- 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome --- imprinting --- parent-of-origin effects --- phenotype-genotype correlation --- autism --- developmental delays --- motor delays --- microbiome --- gut --- ProSAP2 --- Phelan McDermid Syndrome --- gut–brain interaction --- leaky gut --- IL-6 --- SHANK --- collapsin response mediator protein 4 --- autism spectrum disorder --- neurodevelopmental disorder --- whole-exome sequencing --- animal model --- sex different phenotypes --- 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) --- NIPA1 --- NIPA2 --- CYFIP1 --- TUBGCP5 genes --- Prader–Willi and Angelman syndromes --- magnesium transporters and supplementation --- potential treatment options --- intellectual disability --- AMPA receptors --- NMDA receptors --- guanine nucleotide exchange factor --- synaptic plasticity --- Autism spectrum disorder --- ASD --- Obesity --- Overweight --- Body mass index --- BMI --- autism candidate genes --- synaptotagmin-like protein 4 (SYTL4) --- transmembrane protein 187 (TMEM187) --- SYTL4-protein structure --- STRING-protein-protein interaction --- expression profile --- microRNA- interactions --- autism spectrum disorders --- biological networks --- genomics --- multi-omics --- network diffusion --- data integration --- genetics --- quantitative traits --- stratification by trait severity --- heterogeneity reduction --- case-control association analysis --- fragile X syndrome --- RNA toxicity --- DNA methylation --- mosaicism --- pediatrics --- MS-QMA --- AmplideX --- cytokine --- monocyte --- β-glucan --- T cell cytokine --- trained immunity --- maternal immune activation --- epigenetics --- mice --- postnatal VPA injection --- SAM --- gene expression --- nanostring