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Journal articles on the topic 'Genetic Diseases, Inborn – genetics'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Löwy, Ilana. "How diseases became “genetic”." Ciência & Saúde Coletiva 24, no. 10 (2019): 3607–17. http://dx.doi.org/10.1590/1413-812320182410.19102019.

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Abstract This article examines the origins of the term “genetic disease.” In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar “predisposition” was replaced by the view that such diseases have specific causes, while Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticis

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2

Schwartz, Morton K. "Genetic Testing and the Clinical Laboratory Improvement Amendments of 1988: Present and Future." Clinical Chemistry 45, no. 5 (1999): 739–45. http://dx.doi.org/10.1093/clinchem/45.5.739.

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Abstract CLIA ‘88 superseded CLIA ‘67. CLIA ‘88 set standards designed to improve quality and expanded federal oversight to virtually all clinical laboratories in the United States. Presumably because genetics testing was then in its infancy, CLIA ‘88 did not devote a special section to genetics testing. Biochemical and immunochemical tests used to evaluate inborn errors of metabolism and other genetic entities were categorized as analytes in the Clinical Chemistry section, and DNA probes used primarily in infectious disease were included in Microbiology. The legal, social, economic, and ethic

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Casanova, Jean-Laurent. "Severe infectious diseases of childhood as monogenic inborn errors of immunity." Proceedings of the National Academy of Sciences 112, no. 51 (2015): E7128—E7137. http://dx.doi.org/10.1073/pnas.1521651112.

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This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy c

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Howell, R. Rodney. "From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics." Annual Review of Genomics and Human Genetics 19, no. 1 (2018): 1–14. http://dx.doi.org/10.1146/annurev-genom-083117-021611.

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Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-ge

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Nelanuthala, Madhurasree, Brahmapreet Kaur, Vinod Ingale, Suvarna Magar, and Pradnya Joshi. "Having a common ancestor; significance of consanguinity and genetic diseases." International Journal of Contemporary Pediatrics 8, no. 1 (2020): 26. http://dx.doi.org/10.18203/2349-3291.ijcp20205453.

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Background: Consanguinity is prevalent in India, which is one of the high-risk factors for increased risk of single gene diseases. Global developmental delay is heterogeneous group of genetic diseases which includes chromosomal and single gene diseases. The aim of the study is to determine impact of consanguinity on these 2 groups of diseases.Methods: A retrospective review of children coming to genetic OPD with global developmental delay (GDD) and children who were proven inborn errors of metabolism (IEM) was done. Presence of consanguinity or its absence was noted in all the children in both

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Omelchenko, E. M., O. O. Polka, and L. A. Karamzina. "Neonatal Screening for Monogenic Inborn Pathology in Ukraine." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, no. 6 (2020): 292–98. http://dx.doi.org/10.26693/jmbs05.06.292.

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The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic

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Tatour, Yasmin, and Tamar Ben-Yosef. "Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects." Diagnostics 10, no. 10 (2020): 779. http://dx.doi.org/10.3390/diagnostics10100779.

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Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous syste

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8

Casanova, Jean-Laurent. "Human genetic basis of interindividual variability in the course of infection." Proceedings of the National Academy of Sciences 112, no. 51 (2015): E7118—E7127. http://dx.doi.org/10.1073/pnas.1521644112.

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The key problem in human infectious diseases was posed at the turn of the 20th century: their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life-threatening clinical disease develops in only a small minority of infected individuals. Solving this infection enigma is important clinically, for diagnosis, prognosis, prevention, and treatment. Some microbes will inevitably remain refractory to, or escape vaccination, or chemotherapy, or both. The solution also is important biologically, because the emergence and evolution of eukaryotes alongside more rapidly evolving pro

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9

Sogkas, Georgios, Faranaz Atschekzei, Ignatius Ryan Adriawan, Natalia Dubrowinskaja, Torsten Witte, and Reinhold Ernst Schmidt. "Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity." Cellular & Molecular Immunology 18, no. 5 (2021): 1122–40. http://dx.doi.org/10.1038/s41423-020-00626-z.

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AbstractIn addition to susceptibility to infections, conventional primary immunodeficiency disorders (PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as lymphoproliferative and/or autoimmune disease. Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases, such as arthritis, systemic lupus erythematosus (SLE), and Sjogren’s syndrome (SjS). Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore

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10

Leistner, Sandra, and Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses." Genetics and Molecular Biology 21, no. 1 (1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.

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Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a re

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11

Sauls, C. D., and C. T. Caskey. "Applications of recombinant DNA to pathologic diagnosis." Clinical Chemistry 31, no. 6 (1985): 804–11. http://dx.doi.org/10.1093/clinchem/31.6.804.

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Abstract Recombinant DNA techniques are contributing to the understanding of the pathogeneses of genetic, neoplastic, and viral diseases, and are used in the diagnosis of certain genetic and viral diseases. Such techniques will have wider application in the future and will play an increasing role in the clinical laboratory. The technology of this field rests upon the cleavage of DNA by certain enzymes, restriction endonucleases, and upon the ability to locate specific sequences of nucleotides in a cleaved DNA sample by using known fragments of DNA ("probes") labeled with radioisotopes or bioti

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Pournasr, Behshad, and Stephen A. Duncan. "Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells." Arteriosclerosis, Thrombosis, and Vascular Biology 37, no. 11 (2017): 1994–99. http://dx.doi.org/10.1161/atvbaha.117.309199.

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Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common. Advances in genome-wide association studies and DNA sequencing have helped researchers identify the underlying genetic basis of such diseases. Unfortunately, cellular and animal models that accurately recapitulate these inborn errors of hepatic metabolism in the laboratory have been lacking. Recently, investigators have exploited molecular techniques to generate induced pluri

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13

Lanpher, Brendan, Nicola Brunetti-Pierri, and Brendan Lee. "Inborn errors of metabolism: the flux from Mendelian to complex diseases." Nature Reviews Genetics 7, no. 6 (2006): 449–59. http://dx.doi.org/10.1038/nrg1880.

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14

Maegawa, Gustavo H. B. "Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities." Journal of Child Neurology 34, no. 6 (2019): 339–58. http://dx.doi.org/10.1177/0883073819828587.

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The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath. The myelin is a complex sheath composed of several macromolecules covering axons as an insulator. Each of the leukodystrophies is caused by mutations in genes encoding enzymes that are involved in myelin production and maintenance. The lysosomal storage diseases are inborn disorders of compartmentalized cellular organelles with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosome

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15

Bianco, Bianca, and Erik Montagna. "The advances and new technologies for the study of mitochondrial diseases." Einstein (São Paulo) 14, no. 2 (2016): 291–93. http://dx.doi.org/10.1590/s1679-45082016md3561.

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ABSTRACT Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. Finally, it discusses the et

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16

Jaworski, Martine, and Edmond Edwards. "Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?" Progress in Neuro-Psychopharmacology and Biological Psychiatry 15, no. 2 (1991): 171–81. http://dx.doi.org/10.1016/0278-5846(91)90078-f.

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17

Kuznetsova, Tatyana V. "Enviromental factors and human heredity." Ecological genetics 5, no. 1 (2007): 31–34. http://dx.doi.org/10.17816/ecogen5131-34.

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Current state of knowledge in human genome and environmental factors are rewied. Classifications of human inherited and inborn disorders are surveyed, and the methods of their detection are outlined. Main attention is paid to ecogenetic (multifactorial) diseases and to predictive trends in modern medical genetics.

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18

Gironi, Laura Cristina, Francesca Zottarelli, Gianfranco Savoldi, et al. "Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes." Medicina 55, no. 3 (2019): 78. http://dx.doi.org/10.3390/medicina55030078.

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The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak–Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the cli

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19

Vockley, Jerry. "Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases." Journal of Inherited Metabolic Disease 31, no. 5 (2008): 619–29. http://dx.doi.org/10.1007/s10545-008-1005-8.

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20

Varghese, Suma Elcy, Rana Hassan Mohammad El Otol, Fatma Sultan Al Olama, and Salah Ahmad Mohamed Elbadawi. "The Importance of Early Detection of Genetic Diseases." Dubai Medical Journal 4, no. 2 (2021): 133–41. http://dx.doi.org/10.1159/000514215.

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<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and

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Śmigiel, Robert, Mateusz Biela, Krzysztof Szmyd, et al. "Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit." Journal of Clinical Medicine 9, no. 7 (2020): 2220. http://dx.doi.org/10.3390/jcm9072220.

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Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES w

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Gironi, Laura Cristina, Enrico Colombo, Alfredo Brusco, et al. "Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism." Medicina 55, no. 7 (2019): 345. http://dx.doi.org/10.3390/medicina55070345.

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Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congenital multisystem disorders caused by an altered development of the neural crest cells, multipotent progenitors of a wide variety of different lineages, including those differentiating into peripheral nervous syst

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Rapaport, Franck, Bertrand Boisson, Anne Gregor, et al. "Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance." Proceedings of the National Academy of Sciences 118, no. 3 (2021): e2001248118. http://dx.doi.org/10.1073/pnas.2001248118.

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Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants of this evolutionary process in human genes underlying monogenic diseases by comparing various negative selection scores and an integrative approach, CoNeS, at 366 loci underlying inborn errors of immunity (IEI). We find that genes underlying autosomal dominant (AD) or X-linked IEI have stronger negative selection scores than those underlying autosomal recessive (AR) IEI

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El Hazmi, v. "Spectrum of genetic disorders and the impact on health care delivery: an introduction." Eastern Mediterranean Health Journal 5, no. 6 (1999): 1188–95. http://dx.doi.org/10.26719/1999.5.6.1104.

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Until recently, infectious diseases and malnutrition-related disorders constituted the major cause of ill health and mortality in the world population. However, advances in treatment of such disorders and increased understanding of the molecular basis of heredity have led to genetically transmitted conditions becoming a major cause of morbidity and mortality. Several disorders, including chromosomal [Down syndrome, Turner syndrome], single-gene [sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, haemophilia, inborn errors of metabolism]and multifactorial disorders

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Morris, C. A. "Genetics of disease resistance inBos tauruscattle." Animal Genetic Resources Information 23 (April 1998): 1–11. http://dx.doi.org/10.1017/s1014233900004892.

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SummaryThis review summarises evidence for genetic variation ofBos tauruscattle to diseases encountered under temperate conditions, including internal and external parasitism, susceptibility to mycotoxic diseases (tall fescue toxicosis, facial eczema, ryegrass staggers), mastitis, ketosis, pasture bloat, leukosis, tuberculosis, foot and mouth, brucellosis and BSE. Averaging mean heritability estimates reviewed from 8 diseases (weighted equally) gave a value of 0.21, indicating that measurable genetic variation for disease traits inBos tauruscattle is somewhat less than that for production trai

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King, Jovanka, Jonas Ludvigsson, and Lennart Hammarström. "Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future." International Journal of Neonatal Screening 3, no. 3 (2017): 19. http://dx.doi.org/10.3390/ijns3030019.

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Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency (SCID) and other forms of T cell lymphopenia. Multiplexed screening includi

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Чурюмова, Ю. А., Н. В. Вохмянина, С. В. Шляга, et al. "Development and application targeted NGS panels in the selective screening algorithm for inborn errors of metabolism. An experience of the St. Petersburg Medical and Genetic Center." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 7(216) (July 30, 2020): 66–68. http://dx.doi.org/10.25557/2073-7998.2020.07.66-68.

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Наследственные болезни обмена веществ представляют собой обширный класс генетических заболеваний и вносят значительный вклад в детскую заболеваемость, при этом их диагностика с использованием биохимических методов зачастую вызывает затруднения. В СПбГКУЗ МГЦ были разработаны и внедрены три панели для секвенирования 88 генов, ответственных за развитие трех групп наследственных болезней обмена (НБО), и протестировано 84 ребенка, у которых данные заболевания были заподозрены по данным тандемной масс-спектрометрии (ТМС), либо по наличию клинических симптомов. У 6 детей методом NGS полностью устано

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Canna, Scott W., and Rebecca A. Marsh. "Pediatric hemophagocytic lymphohistiocytosis." Blood 135, no. 16 (2020): 1332–43. http://dx.doi.org/10.1182/blood.2019000936.

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Abstract Hemophagocytic lymphohistiocytosis (HLH) is a syndrome describing patients with severe systemic hyperinflammation. Characteristic features include unremitting fever, cytopenias, hepatosplenomegaly, and elevation of typical HLH biomarkers. Patients can develop hepatitis, coagulopathy, liver failure, central nervous system involvement, multiorgan failure, and other manifestations. The syndrome has a high mortality rate. More and more, it is recognized that while HLH can be appropriately used as a broad summary diagnosis, many pediatric patients actually suffer from an expanding spectrum

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Grossi, Alice, Maurizio Miano, Marina Lanciotti, et al. "Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients." Genes 12, no. 9 (2021): 1299. http://dx.doi.org/10.3390/genes12091299.

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Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase in the recognition of such defects, though the wide heterogeneity of genetically diverse but phenotypically overlapping diseases has often prevented the molecular characterization of the most complex patients. Two hundred and seventy-two patients were submitted to three successive NGS-based gene panels composed of 58, 146, and 312 genes. Along

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Medghalchi, Abdolreza, Afagh Hassanzadeh Rad, and Setila Dalili. "The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review." Journal of Pediatrics Review 9, no. 2 (2021): 137–44. http://dx.doi.org/10.32598/jpr.9.2.584.1.

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Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms o

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Vorsteveld, Emil E., Alexander Hoischen, and Caspar I. van der Made. "Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives." Clinical Reviews in Allergy & Immunology 61, no. 2 (2021): 212–25. http://dx.doi.org/10.1007/s12016-021-08838-5.

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AbstractPrimary immunodeficiencies comprise a group of inborn errors of immunity that display significant clinical and genetic heterogeneity. Next-generation sequencing techniques and predominantly whole exome sequencing have revolutionized the understanding of the genetic and molecular basis of genetic diseases, thereby also leading to a sharp increase in the discovery of new genes associated with primary immunodeficiencies. In this review, we discuss the current diagnostic yield of this generic diagnostic approach by evaluating the studies that have employed next-generation sequencing techni

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Castagnoli, Riccardo, Francesca Pala, Marita Bosticardo, et al. "Gut Microbiota–Host Interactions in Inborn Errors of Immunity." International Journal of Molecular Sciences 22, no. 3 (2021): 1416. http://dx.doi.org/10.3390/ijms22031416.

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Inborn errors of immunity (IEI) are a group of disorders that are mostly caused by genetic mutations affecting immune host defense and immune regulation. Although IEI present with a wide spectrum of clinical features, in about one third of them various degrees of gastrointestinal (GI) involvement have been described and for some IEI the GI manifestations represent the main and peculiar clinical feature. The microbiome plays critical roles in the education and function of the host’s innate and adaptive immune system, and imbalances in microbiota-immunity interactions can contribute to intestina

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Lopez, LeAnn, Peter C. Sang, Yun Tian, and Yongming Sang. "Dysregulated Interferon Response Underlying Severe COVID-19." Viruses 12, no. 12 (2020): 1433. http://dx.doi.org/10.3390/v12121433.

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Innate immune interferons (IFNs), including type I and III IFNs, constitute critical antiviral mechanisms. Recent studies reveal that IFN dysregulation is key to determine COVID-19 pathogenesis. Effective IFN stimulation or prophylactic administration of IFNs at the early stage prior to severe COVID-19 may elicit an autonomous antiviral state, restrict the virus infection, and prevent COVID-19 progression. Inborn genetic flaws and autoreactive antibodies that block IFN response have been significantly associated with about 14% of patients with life-threatening COVID-19 pneumonia. In most sever

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Guo, Li, Bing-Xiao Li, Mei Deng, et al. "Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China." Journal of Biomedicine and Biotechnology 2011 (2011): 1–11. http://dx.doi.org/10.1155/2011/318616.

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Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including inborn errors of metabolism (IEM) and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, ga

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Mathers, John C. "Nutrigenomics in the modern era." Proceedings of the Nutrition Society 76, no. 3 (2016): 265–75. http://dx.doi.org/10.1017/s002966511600080x.

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The concept that interactions between nutrition and genetics determine phenotype was established by Garrod at the beginning of the 20th century through his ground-breaking work on inborn errors of metabolism. A century later, the science and technologies involved in sequencing of the human genome stimulated development of the scientific discipline which we now recognise as nutritional genomics (nutrigenomics). Much of the early hype around possible applications of this new science was unhelpful and raised expectations, which have not been realised as quickly as some would have hoped. However,

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Szczawinska-Poplonyk, Aleksandra, Kinga Begier, Alicja Dorota, et al. "Syndromic immunodeficiencies: a pediatrician’s perspective on selected diseases." Allergologia et Immunopathologia 49, no. 4 (2021): 117–36. http://dx.doi.org/10.15586/aei.v49i4.200.

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Background: Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra immune clinical symptoms and a wide range of immunological phenotypes with increased susceptibility to infections, autoimmune phenomena, immune dysregulation, organ-specificpathology, and malignancy.Objective: To increase the pediatricians’ awareness of this multifaceted group of primary immunodeficiencies in children.Methods: A comprehensive review of genetic background and clinical symptomatology of syndromic immunodef

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Russo, Pierre A., Grant A. Mitchell, and Robert M. Tanguay. "Tyrosinemia: A Review." Pediatric and Developmental Pathology 4, no. 3 (2001): 212–21. http://dx.doi.org/10.1007/s100240010146.

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Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. The clinical findings range from a severe hepatopathy of early infancy to chronic liver disease and rickets in the older child; gradual refinements in the diagnosis and medical management of this disorder have greatly altered its natural course, mirroring recent advances in the field of metabolic diseases in the past quarter century. Hepatorenal tyrosinemia i

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Ismail, Showalter, and Fiehn. "Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics." Metabolites 9, no. 10 (2019): 242. http://dx.doi.org/10.3390/metabo9100242.

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Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screen

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Barbosa-Gouveia, Sofia, María E. Vázquez-Mosquera, Emiliano González-Vioque, et al. "Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center." Genes 12, no. 8 (2021): 1262. http://dx.doi.org/10.3390/genes12081262.

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Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period, we prospectively analyzed 311 pediatric patients with a suspected IEM using four targeted gene panels. The rate of positive diagnosis was 61.86% for intermediary metabolism defects, 32.84% for complex molecular defects, 19% for hypoglycemic/hyperglycemic events, and 17% for mitochondrial diseases, and a conclusive molecular diagnosis was estab

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Hoffman, Gary S. "Determinants of Vessel Targeting in Vasculitis." Clinical and Developmental Immunology 11, no. 3-4 (2004): 275–79. http://dx.doi.org/10.1080/17402520400001652.

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Studies of autoimmune diseases have not yet elucidated why certain organs or vessels become the objects of injury while others are spared. This paper will explore the hypothesis that important differences exist in regions of the aorta that determine vulnerability to diseases, such as atherosclerosis, aortitis, giant cell arteritis and Takayasu's disease. The reader is invited to reassess; (1) whether the aorta is indeed a single homogeneous structure, and (2) whether the initial stage of aortitis (and indeed other diseases considered “autoimmune”) may be primarily due to acquired alterations o

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Różdżyńska-Świątkowska, Agnieszka, and Anna Tylki-Szymańska. "The importance of anthropological methods in the diagnosis of rare diseases." Journal of Pediatric Endocrinology and Metabolism 32, no. 4 (2019): 311–20. http://dx.doi.org/10.1515/jpem-2018-0433.

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Abstract Most of inborn errors of metabolism (IEMs) and rare endocrine-metabolic diseases (REMD) are rare diseases. According to the European Commission on Public Health, a rare disease is defined, based on its prevalence, as one affecting one in 2000 people. Many IEMs affect body stature, cause craniofacial abnormalities, and disturb the developmental process. Therefore, body proportion, dysmorphic characteristics, and morphological parameters must be assessed and closely monitored. This can be achieved only with the help of an anthropologist who has adequate tools. This is why the role of an

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Hlavatá, A. "The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR." Acta Facultatis Pharmaceuticae Universitatis Comenianae 60, Supplementum-VIII (2013): 16–21. http://dx.doi.org/10.2478/afpuc-2013-0003.

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Recently, from 6,000 to 8,000 rare diseases have been registered, of which over 1,000 are inherited metabolic diseases. In Slovakia, a nationwide newborn screening for phenylketonuria − an inherited metabolic disease that occurred frequently in our country − has been performed over the last 40 years. Special workplaces in Bratislava, Banská Bystrica and Košice were set up to provide optimal availability of treatment for patients with phenylketonuria. Today, Inherited Metabolic Diseases Centre in Children's Faculty Hospital in Bratislava uses the laboratories at the Department of Laboratory Med

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Szymańska, Krystyna, Krzysztof Szczałuba, Agnieszka Ługowska, et al. "The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders." BioMed Research International 2014 (2014): 1–8. http://dx.doi.org/10.1155/2014/424796.

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Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the reg

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Das, Anibh M., Ulrike Steuerwald, and Sabine Illsinger. "Inborn Errors of Energy Metabolism Associated with Myopathies." Journal of Biomedicine and Biotechnology 2010 (2010): 1–19. http://dx.doi.org/10.1155/2010/340849.

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Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affe

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Nishikomori, Ryuta, Kazushi Izawa, Naotomo Kambe, Osamu Ohara, and Takahiro Yasumi. "Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases." International Immunology 31, no. 10 (2019): 649–55. http://dx.doi.org/10.1093/intimm/dxz047.

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AbstractAutoinflammatory disease is an ‘inborn error of immunity’, resulting in systemic inflammation. Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease caused by gain-of-function mutations in the NLRP3 (NLR family pyrin domain containing 3) gene; these mutations activate the NLRP3 inflammasome, resulting in overproduction of IL-1β. The first case of CAPS caused by somatic NLRP3 mosaicism was reported in 2005 after identification of variant small peaks by Sanger sequencing. An international collaborative study revealed that the majority of mutation-negati

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McKay, Kirsten E., Christopher K. Bruce, Jane L. Hartley, et al. "Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11." F1000Research 2 (March 20, 2013): 32. http://dx.doi.org/10.12688/f1000research.2-32.v2.

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Background: Neonatal cholestasis is a common presentation of childhood liver diseases and can be a feature of various conditions including disorders of bile acid biogenesis and transport, various inborn errors of metabolism and perinatal infections. Some inherited metabolic diseases can be easily screened using biochemical assays, however many can only be accurately diagnosed by DNA sequencing. Fluorescent capillary Sanger sequencing (FS) is the gold standard method used by clinical laboratories for genetic diagnosis of many inherited conditions; however, it does have limitations. Recently mic

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Kochanek, Stefan. "Development of High-Capacity Adenoviral Vectors for Gene Therapy." Thrombosis and Haemostasis 82, no. 08 (1999): 547–51. http://dx.doi.org/10.1055/s-0037-1615878.

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IntroductionArticles about mutations that cause genetic disorders frequently include a suggestion that gene therapy will likely provide a cure for the disease in the future. In fact, ongoing efforts to sequence the human genome, to understand the roles of genes during development, and to determine the molecular pathogenesis of disease will almost “naturally” lead to the use of nucleic acids for the treatment of diseases in the future.Somatic gene therapy can be defined as the treatment of inherited or acquired diseases by the introduction and expression of genetic information in somatic cells.

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Borda, Victor, Ronaldo da Silva Francisco Junior, Joseane B. Carvalho, et al. "Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome." PLOS Neglected Tropical Diseases 15, no. 6 (2021): e0009507. http://dx.doi.org/10.1371/journal.pntd.0009507.

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Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and maternal genetic background. Nevertheless, the newborn’s genetic contribution to the critical illness is still not elucidated. Here, we aimed to identify possible genetic variants as well as relevant biologica

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Muntau, Ania C., and Søren W. Gersting. "Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism." Journal of Inherited Metabolic Disease 33, no. 6 (2010): 649–58. http://dx.doi.org/10.1007/s10545-010-9185-4.

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Elbagoury, Marwan, Abdulelah Ismail Qadi, Ayman Hejazi, et al. "Prevalence of Gaucher Disease in Patients of Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia." Blood 136, Supplement 1 (2020): 32–33. http://dx.doi.org/10.1182/blood-2020-140563.

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Rationale: Gaucher disease (GD) is the most common amongst the lysosomal storage disorders. Prevalence of GD in Saudi Arabia is not available in published literature and it is expected to be high and remains undiagnosed. In 2004, a Saudi study reported that GD accounts for 6% of all genetic metabolic disorders. While acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder with no clear data about its incidence in Saudi Arabia. Consequently, this study proposes to determine the prevalence of GD and ASMD in outpatient settings in Saudi Arabia by screening patients with unk

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