Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.54069
Abstract: Key Points Question What proportion of infant mortality is explained by genetic diseases? Findings In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments… read more here.
Keywords: genetic diseases; infant mortality; reclassification etiology; etiology ... See more keywords
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24163
Abstract: Mendelian rare genetic diseases affect 5%–10% of the population, and with over 5300 genes responsible for ∼7000 different diseases, they are challenging to diagnose. The use of whole‐genome sequencing (WGS) has bolstered the diagnosis rate… read more here.
Keywords: mendelian rare; diagnosis; genebreaker; variant simulation ... See more keywords
Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia
Sign Up to like & getrecommendations! Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5472
Abstract: As prenatal diagnostic services expand throughout low‐income countries, an important consideration is the appropriateness of these services for patients. In these countries, services now include prenatal ultrasound and occasionally genetic testing. To assess patient interest,… read more here.
Keywords: congenital anomalies; anomalies genetic; prenatal testing; testing termination ... See more keywords
An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_2
Abstract: Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach uses antisense oligonucleotides (AON) to modify the splicing of pre-mRNA… read more here.
Keywords: muscular dystrophy; dystrophy; various genetic; genetic diseases ... See more keywords
Analyzing genetic diseases using multimedia processing techniques associative decision tree-based learning and Hopfield dynamic neural networks from medical images
Sign Up to like & getrecommendations! Published in 2019 at "Neural Computing and Applications"
DOI: 10.1007/s00521-018-04004-9
Abstract: Genetic diseases are the most common next-generation diseases because of the improper mutation of the genes and DNA. These genetic diseases are failed to predict with an accurate manner in the beginning stage by using… read more here.
Keywords: genetic diseases; decision tree; medical images; associative decision ... See more keywords
Organoids for Modeling Genetic Diseases.
Sign Up to like & getrecommendations! Published in 2018 at "International review of cell and molecular biology"
DOI: 10.1016/bs.ircmb.2017.12.006
Abstract: In less than a decade, organoid systems have emerged as an innovative and valid in vitro method to mimic in vivo pathophysiology. Organoids are 3D structures constituted by multiple organ-specific cell types that self-organize and… read more here.
Keywords: medicine; organoids modeling; modeling genetic; biology ... See more keywords
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.04.003
Abstract: Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while… read more here.
Keywords: diagnosis rare; diagnosis; rare diseases; genetics ... See more keywords
Genetic Diseases of Vitamin D Metabolizing Enzymes.
Sign Up to like & getrecommendations! Published in 2017 at "Endocrinology and metabolism clinics of North America"
DOI: 10.1016/j.ecl.2017.07.011
Abstract: Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1α-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D3 to the hormonal form, 1,25-(OH)2D3, and the inactivation of 1,25-(OH)2D3 to biliary excretory… read more here.
Keywords: endocrinology; metabolizing enzymes; vitamin metabolizing; diseases vitamin ... See more keywords
SU76 INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.265
Abstract: Background Genetic diseases are individually rare but collectively common. Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with regular medications. Treatment of the underlying genetic disease can… read more here.
Keywords: disease; genetic disease; schizophrenia bipolar; genetic diseases ... See more keywords
Modelling genetic diseases for drug development: Hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Pharmacological research"
DOI: 10.1016/j.phrs.2020.105176
Abstract: Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiac disease, with a prevalence of 1/500. It is caused by over 1400 different mutations, mainly involving the genes coding for sarcomere proteins. The main pathological features of… read more here.
Keywords: hypertrophic cardiomyopathy; hcm; modelling genetic; genetic diseases ... See more keywords
Establishing Linkages Among DNA Damage, Mutagenesis, and Genetic Diseases.
Sign Up to like & getrecommendations! Published in 2022 at "Chemical research in toxicology"
DOI: 10.1021/acs.chemrestox.2c00155
Abstract: DNA damage by chemicals, radiation, or oxidative stress leads to a mutational spectrum, which is complex because it is determined in part by lesion structure, the DNA sequence context of the lesion, lesion repair kinetics,… read more here.
Keywords: genetic diseases; dna damage; establishing linkages; lesion ... See more keywords