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Relevant bibliographies by topics / Genetic disorders; Disease genes

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Academic literature on the topic 'Genetic disorders; Disease genes'

Author: Grafiati

Published: 4 June 2021

Last updated: 16 February 2022

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Journal articles on the topic "Genetic disorders; Disease genes"

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Coppedè, Fabio, Michelangelo Mancuso, Gabriele Siciliano, Lucia Migliore, and Luigi Murri. "Genes and the Environment in Neurodegeneration." Bioscience Reports 26, no. 5 (November 9, 2006): 341–67. http://dx.doi.org/10.1007/s10540-006-9028-6.

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Neurodegenerative diseases are a heterogeneous group of pathologies which includes complex multifactorial diseases, monogenic disorders and disorders for which inherited, sporadic and transmissible forms are known. Factors associated with predisposition and vulnerability to neurodegenerative disorders may be described usefully within the context of gene–environment interplay. There are many identified genetic determinants for neurodegeneration, and it is possible to duplicate many elements of recognized human neurodegenerative disorders in animal models of the disease. However, there are similarly several identifiable environmental influences on outcomes of the genetic defects; and the course of a progressive neurodegenerative disorder can be greatly modified by environmental elements. In this review we highlight some of the major neurodegenerative disorders (Alzheimer's disease, Parkinson's disease, Amyotrophic lateral sclerosis, Huntington's disease, and prion diseases.) and discuss possible links of gene–environment interplay including, where implicated, mitochondrial genes.

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RUTTER, MICHAEL. "Pathways of genetic influences on psychopathology." European Review 12, no. 1 (February 2004): 19–33. http://dx.doi.org/10.1017/s1062798704000031.

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Quantitative genetics, using data from twin and adoptee studies, has shown substantial genetic influences on all forms of psychiatric disorder; however, with just a few exceptions, the evidence indicates that the disorders are multifactorial, with influences that are both genetic and environmental. In recent years, molecular genetics has begun to identify individual susceptibility genes; examples are given for schizophrenia, attention deficit/hyperactivity disorder, and Alzheimer's disease. Both quantitative and molecular genetics have shown the importance of gene-environment interplay with respect to the commoner disorders of emotions and behaviour. In particular, it has been found that genetic influences moderate people's vulnerability to environmental risks. Five main alternative routes by which genes indirectly (via their effects on proteins) lead to multifactorial psychiatric disorders are described. Four main research issues are highlighted: the fuller delineation of the mechanisms involved in nature–nurture interplay and its role in aetiology; determination of how genes play a role in the neural underpinning of psychiatric disorders; identification of the ways in which genes suggest a dissection of disorders; and an understanding of the role of risk dimensions and disorder dimensions.

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Minaycheva, L. I., E. Yu Bragina, I. Zh Zhalsanova, N. A. Chesnokova, and A. V. Marusin. "Association of celiac disease genetic markers with reproduction disorders." Almanac of Clinical Medicine 47, no. 1 (February 26, 2019): 72–82. http://dx.doi.org/10.18786/2072-0505-2019-47-006.

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Background: Numerous studies have shown a link between genes involved in the immune response and infertility and miscarriage. The most significant associations have been established for the cytokine genes (IL1B, IL6, IL10, IL18), chemokine genes (CXCL9, CXCL10, CXCL11), and genes of the major histocompatibility complex HLA II class (DQA1, DQB1, DRB1). HLA genes are associated with celiac disease, a genetically determined autoimmune disorder, where male and female reproduction impairment is one of the symptoms. Aim: To assess the prevalence of polymorphic variants of the immune response genes (HLA: DQA1 DQB1, DRB1; TNF, IL10, CXCL10) in patients with reproduction disorders. Materials and methods: This pilot study involved assessment of the following gene polymorphisms: IL10 (rs1800872), TNF (rs1800629), CXCL10 (rs4386624), and HLA class II (DQA1, DQB1, DRB1) in couples (n = 220) with reproduction disorders (infertility and miscarriage). Genotyping was performed by real-time polymerase chain reaction (PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. The genotypes and alleles population data were used for comparison with the studied variants of the genes IL10 (rs1800872), TNF (rs1800629), and CXCL10 (rs4386624). Differences in the prevalence of alleles and genotypes were assessed by χ2 test. The differences were considered significant at p < 0.05. Haplotype diversity was calculated by the Arlequin software, version 3.5.x. Results: Compared to the populational data, there was significant re-distribution of the genotypes and alleles to the TNF gene (rs1800629) variant in men with impaired reproductive functions. No differences were found for other gene variants studied. The frequency of HLA class II gene (DQA1, DQB1, DRB1) haplotypes associated with celiac disease (DQ2 and DQ8) in the study sample was 23.8%. Conclusion: The results indicate the important role of genes associated with celiac disease in the development of reproduction disorders.

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Cordeiro Júnior, Quirino, Daniela Meshulam Werebe, and Homero Vallada. "Darier's disease: a new paradigm for genetic studies in psychiatric disorders." Sao Paulo Medical Journal 118, no. 6 (November 9, 2000): 201–3. http://dx.doi.org/10.1590/s1516-31802000000600011.

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CONTEXT: One strategy for identifying susceptibility genes for common disorders is to investigate Mendelian diseases, cosegregating with these common disease phenotypes. CASE REPORT: A family with seven members is described, in which three members present Darier's disease and depression. This apparent cosegregation, if true, would support the hypothesis that in some pedigrees, a gene for mood disorder may be located on chromosome 12.

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Domschke, K. "Genetics in anxiety disorders - an update." European Psychiatry 26, S2 (March 2011): 2097. http://dx.doi.org/10.1016/s0924-9338(11)73800-7.

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Twin studies propose a strong genetic contribution to the pathogenesis of anxiety disorders with a heritability of about 50%. The dissection of the complex-genetic underpinnings of anxiety disorders requires a multi-level approach using molecular genetic, imaging genetic, (cognitive)-behavioral genetic and pharmacogenetic techniques linking basic and clinical research.The present talk will first give an overview of results from linkage and association studies yielding support for several candidate genes contributing to the genetic risk for anxiety and panic disorder in particular such as the adenosine 2A receptor, the catechol-O-methyltransferase, the neuropeptide S receptor and the serotonin receptor 1A genes. Results from the first genome-wide association studies in the field of anxiety disorders will be discussed. Additionally, studies on gene-environment interactions between anxiety disorder risk variants and environmental factors will be presented. Imaging genetics approaches have yielded evidence for several risk genes to crucially impact activation in brain regions critical for emotional processing. Gene variation has furthermore been found to potentially confer an increased risk for panic disorder via elevated autonomic arousal and dysfunctional cognitions regarding bodily sensations. Finally, there is first evidence for genetic variants impacting treatment response to antidepressant pharmacotherapy in anxiety disorders.Thus, converging lines of evidence will be presented for several candidate genes of anxiety to exert an increased disease risk potentially via a distorted cortico-limbic interaction during emotional processing, increased physiological arousal or dysfunctional cognition. Additionally, a possible impact of genetic variants on pharmacoresponse in anxiety disorders and its potential clinical implications will be discussed.

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Pajovic, Snezana. "Polygenic and miltufactorial disorders." Genetika 39, no. 2 (2007): 283–90. http://dx.doi.org/10.2298/gensr0702283p.

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Many factors influence our susceptibility to disease. These include our stress load, our environment and the toxins we absorb from it, the total number of infectious agents we are exposed to as well as our underlying genetic susceptibility to these diseases. Multifactorial is the term given to the mode of transmission shown by a large number of diseases which show familial clustering but which is not in accord with any recognized pattern of single gene inheritance. These diseases include several common congenital malformations and acquired disorders of childhood and adult life. The underlying genetic mechanism is thought to involve interaction of relatively large numbers of genes - hence oligogenic or polygenic - with environmental factors. The ultimate cause of Alzheimer?s (AD) is unknown. Genetic factors are suspected, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of familial, early -onset AD. For the more form of late onset AD, ApoE is the only repeatedly confirmed susceptibility gene. Coronary artery disease is well-recognized complication of several single-gene disorders involving lipid metabolism. Over 20 genes have been proposed as candidates for polygenic coronary artery disease. These include genes which control lipid metabolism, blood pressure, clotting, and fibrinolysis.

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Ablon, Joan. "Social Dimensions of Genetic Disorders." Practicing Anthropology 14, no. 1 (January 1, 1992): 10–13. http://dx.doi.org/10.17730/praa.14.1.b800n7x364516715.

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Each of us carries between 4-8 recessive genes for serious genetic defects, and, hence, stands a statistical chance of passing on a serious or lethal condition to each child… 12 million Americans carry true genetic disease due wholly or partly to defective genes or chromosomes…40 percent or more of all infant mortality results from genetic factors…4.8 to 5 percent of all live births have genetic defects. (U.S. Department of Health, Education, and Welfare. "What are the Facts About Genetic Disease?" National Inst. of Gen. Med. Scs., P.H.S., N.I.H. DHEW Pub. No. (NIH), 75-370, 1975.)

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van Moorsel, Coline H. M., Joanne J. van der Vis, and Jan C. Grutters. "Genetic disorders of the surfactant system: focus on adult disease." European Respiratory Review 30, no. 159 (February 16, 2021): 200085. http://dx.doi.org/10.1183/16000617.0085-2020.

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Genes involved in the production of pulmonary surfactant are crucial for the development and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a spectrum of severe monogenic pulmonary diseases in patients of all ages. The majority of affected patients present at a very young age, however, a considerable portion of patients have adult-onset disease. Mutations in surfactant-related genes are present in up to 8% of adult patients with familial interstitial lung disease (ILD) and associate with the development of pulmonary fibrosis and lung cancer.High disease penetrance and variable expressivity underscore the potential value of genetic analysis for diagnostic purposes. However, scarce genotype–phenotype correlations and insufficient knowledge of mutation-specific pathogenic processes hamper the development of mutation-specific treatment options.This article describes the genetic origin of surfactant-related lung disease and presents spectra for gene, age, sex and pulmonary phenotype of adult carriers of germline mutations in surfactant-related genes.

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Ahmed, Hala, Louai Alarabi, Shaker El-Sappagh, Hassan Soliman, and Mohammed Elmogy. "Genetic variations analysis for complex brain disease diagnosis using machine learning techniques: opportunities and hurdles." PeerJ Computer Science 7 (September 20, 2021): e697. http://dx.doi.org/10.7717/peerj-cs.697.

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Background and Objectives This paper presents an in-depth review of the state-of-the-art genetic variations analysis to discover complex genes associated with the brain’s genetic disorders. We first introduce the genetic analysis of complex brain diseases, genetic variation, and DNA microarrays. Then, the review focuses on available machine learning methods used for complex brain disease classification. Therein, we discuss the various datasets, preprocessing, feature selection and extraction, and classification strategies. In particular, we concentrate on studying single nucleotide polymorphisms (SNP) that support the highest resolution for genomic fingerprinting for tracking disease genes. Subsequently, the study provides an overview of the applications for some specific diseases, including autism spectrum disorder, brain cancer, and Alzheimer’s disease (AD). The study argues that despite the significant recent developments in the analysis and treatment of genetic disorders, there are considerable challenges to elucidate causative mutations, especially from the viewpoint of implementing genetic analysis in clinical practice. The review finally provides a critical discussion on the applicability of genetic variations analysis for complex brain disease identification highlighting the future challenges. Methods We used a methodology for literature surveys to obtain data from academic databases. Criteria were defined for inclusion and exclusion. The selection of articles was followed by three stages. In addition, the principal methods for machine learning to classify the disease were presented in each stage in more detail. Results It was revealed that machine learning based on SNP was widely utilized to solve problems of genetic variation for complex diseases related to genes. Conclusions Despite significant developments in genetic diseases in the past two decades of the diagnosis and treatment, there is still a large percentage in which the causative mutation cannot be determined, and a final genetic diagnosis remains elusive. So, we need to detect the variations of the genes related to brain disorders in the early disease stages.

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Camp, G. Van. "Strategies for identification of disease genes." Acta Neuropsychiatrica 11, no. 2 (June 1999): 38–41. http://dx.doi.org/10.1017/s0924270800036103.

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Many genetic disorders are caused by mutations in single genes (monogenic diseases), and the inheritance pattern of these diseases follows simple rules. If a mutation in both copies of the gene on both chromosome homologues is necessary to cause the disease, the inheritance pattern is recessive, and a patient is the offspring of two clinically unaffected carriers. However, if a mutation in a single homologue is sufficient, the inheritance pattern is dominant and the disease is transmitted from generation to generation. Monogenic diseases are responsible for only a small fraction of all patients with genetic diseases. Many common diseases, including cancer, heart disease, diabetes and several psychiatric diseases, are the results of a complex interaction between genetic and environmental factors. However, these diseases can have important genetic components and can therefore still be considered genetic diseases. The identification of genes involved in complex genetic diseases can be very important for the understanding and treatment of these diseases. Over the last 15 years, much progress has been made in the identification of genes responsible for monogenic diseases, but the identification of genes involved in complex diseases has been more difficult, and at this moment little is known about the genes involved in most common diseases.

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Dissertations / Theses on the topic "Genetic disorders; Disease genes"

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Warner, Thomas Treharne. "A molecular genetic study of inherited movement disorders." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.285185.

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Abecasis, G. R. "Methods for fine mapping complex traits in human pedigrees." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365700.

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Melville, Scott Andrew Biotechnology &amp Biomolecular Sciences Faculty of Science UNSW. "Disease gene mapping in border collie dogs." Awarded by:University of New South Wales. School of Biotechnology and Biomolecular Sciences, 2006. http://handle.unsw.edu.au/1959.4/25511.

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Pedigree dog breeds are genetically isolated and inbred populations with characteristics specific to each breed. Some breeds carry genetic diseases which affect the health of the animals, but may also serve as a valuable model to identify genes involved in human disease. In the Border Collie breed in Australia, the identification of two disease genes would enable breeders to DNA test their animals and prevent future cases. Over 530 samples were collected to identify the genes responsible for these diseases through linkage mapping and candidate gene approaches. Collie Eye Anomaly (CEA) defines a group of symptoms that cause the incorrect development of different regions within the eye, and may also result in the detachment of the retina. The presence of the disease in different breeds of collies suggests that the disease originated before the differentiation of the collie breeds. The CEA gene was mapped to a region of CFA37, but the disease gene was identified by another research group. Neuronal Ceroid Lipofuscinosis (NCL) is a fatal neurodegenerative disorder that affects Border Collie dogs from approximately 16 months of age. The disease is inherited in an autosomal recessive manner and affected animals display a range of physiological and behavioural symptoms that include loss of muscular control, nervousness and sometimes aggression. Due to the debilitating nature of the disease, dogs rarely survive beyond 28 months of age. Microsatellite markers were used to exclude the Border Collie NCL gene from the region of the English Setter NCL gene (homolog of human NCL gene CLN8). Further work mapped the disease gene to CFA22, in a region containing the homolog for CLN5, one of the identified human disease genes for NCL. Subsequent sequencing of canine CLN5 revealed a nonsense mutation (c.619C>T, Q206X) that co-segregated with NCL in Border Collie pedigrees. This truncation mutation resulted in a protein product of similar size to some mutations identified in human CLN5 and therefore the Border Collie may make a good model for future NCL studies. With DNA testing now available, breeders of Border Collies can now ensure that no animal will die of NCL.

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Fisher, Simon E. "Positional cloning of the gene responsible for Dent's disease." Thesis, University of Oxford, 1995. http://ora.ox.ac.uk/objects/uuid:22f6e7a5-4f00-41c9-a1d3-1b05899f22c0.

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The hypervariable locus DXS255 in human Xp11.22 has a heterozygosity exceeding 90% and has therefore facilitated the localization of several disease genes which map to the proximal short arm of the X chromosome, including the immune deficiency Wiskott-Aldrich syndrome and the eye disorders retinitis pigmentosa, congenital stationary night blindness and Aland Island eye disease. In addition, a microdeletion involving DXS255 has been identified in patients suffering from Dent's disease, a familial X-linked renal tubular disorder which is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis (kidney stones) and eventual renal failure. Two YAC contigs were constructed in Xp11.23-p11.22 in order to aid transcript mapping; the first centred on the DXS255 locus, the second mapping distal to the first and linking the genes GATA, TFE3 and SYP to the OATL1 cluster. Eleven novel markers were generated, one of which contains an exon from a novel calcium channel gene. Four putative CpG islands were detected in the region. Analysis of the microdeletion associated with Dent's disease using markers from the DXS255 contig demonstrated that it is confined to a 370kb interval. A YAC overlapping this deletion was hybridized to a kidney-specific cDNA library to isolate coding sequences that might be implicated in the disease aetiology. The clones thus identified detect a 9.5kb transcript which is expressed predominantly in kidney, and originate from a novel gene (CLCN5) falling within the deleted region. Sequence analysis indicates that the 746 residue protein encoded by this gene is a new member of the C1C family of voltage-gated chloride channels. The coding region of CLCN5 is organized into twelve exons, spanning 25-30kb of genomic DNA. Using the information presented in this thesis, other studies have identified deletions and point mutations which disrupt CLCN5 activity in further patients affected with X-linked hypercalciuric nephrolithiasis, confirming the role of this locus in renal tubular dysfunction.

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Oellrich, Anika. "Supporting disease candidate gene discovery based on phenotype mining." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648355.

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Stephenson, Nicole E. "Examination of the involvement of the Stat6-regulated genes, Gfi-1 and Gfi-1b, in the development of a lymphoproliferative disease in mice." Virtual Press, 2008. http://liblink.bsu.edu/uhtbin/catkey/1391679.

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Mouse models (that develop or can be stimulated to develop lymphomas) are used to examine cancer-related processes. Mouse models can be effective tools used to identify new, early, and pre-malignant markers of lymphomas. Signal Transducer and Activator of Transcription (STAT) 6 is a transcription factor activated through the Jak-Stat pathway. Transgenic mice expressing a constantly activated Stat6 (Stat6VT) were previously generated and characterized to have altered lymphocyte homeostasis. Some of these Stat6VT mice developed a lymphoproliferative disorder (LPD). LPD, including lymphomas, develops when lymphocytes are overproduced or act abnormally. These Stat6VT mice may serve as a model for examining lymphoma development. In order to characterize the altered lymphocytes and determine if LPD observed in the Stat6VT mice is characteristic of lymphoma, RT-PCR analysis and Western analysis were done to examine if the presence of Stat6VT alters the expression of the cell cycle genes Gfi-1 and Gfi-1b and if these genes differ in LPD Stat6VT verses control mice.
Department of Biology

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Worgan, Lisa Catherine Women &amp Children's Health UNSW. "The role of nuclear-encoded subunit genes in mitochondrial complex 1 deficiency." Awarded by:University of New South Wales. Women and Children's Health, 2005. http://handle.unsw.edu.au/1959.4/22307.

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BACKGROUND: Mitochondrial complex I deficiency often leads to a devastating neurodegenerative disorder of childhood. In most cases, the underlying genetic defect is unknown. Recessive nuclear gene mutations, rather than mitochondrial DNA mutations, account for the majority of cases. AIM: Our aim was to identify the genetic basis of complex I deficiency in 34 patients with isolated complex I deficiency, by studying six of the 39 nuclear encoded complex I subunit genes (NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS7 and NDUFS8). These genes have been conserved throughout evolution and carry out essential aspects of complex I function. METHODS: RNA was extracted from patient fibroblasts and cDNA made by reverse transcription. Overlapping amplicons that together spanned the entire coding area of each gene were amplified by PCR. The genes were screened for mutations using denaturing High Performance Liquid Chromatography (dHPLC). Patient samples with abnormal dHPLC profiles underwent direct DNA sequencing. RESULTS: Novel mutations were identified in six of 34 (18%) patients with isolated complex I deficiency. Five patients had two mutations identified and one patient had a single mutation in NDUFS4 identified. All patients with mutations had a progressive encephalopathy and five out of six had Leigh syndrome or Leigh like syndrome. Mutations were found in three nuclear encoded subunit genes, NDUFV1, NDUFS2 and NDUFS4. Three novel NDUFV1 mutations were identified (R386H, K111E and P252R). The R386H mutation was found in two apparently unrelated patients. Four novel NDUFS2 mutations were identified (R221X, M292T, R333Q and IVS9+4A<G). The novel NDUFS4 mutation c.221delC was found in two patients - one in homozygous form and the other heterozygous. Specific genotype and phenotype correlations were not identified. CONCLUSIONS: Nuclear encoded complex I subunit gene mutations are an important contributor to the aetiology of isolated complex I deficiency in childhood. Screening of these genes is an essential part of the investigation of complex I deficiency.

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Ross, Colin J. D. "Immuno-isolation gene therapy for lysosomal storage disease /." *McMaster only, 2001.

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Zhou, ZiaoLei. "Molecular genetic studies of colorectal cancer /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-489-9/.

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Books on the topic "Genetic disorders; Disease genes"

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Nicholas, Hastie, ed. Genes and common diseases. Cambridge: Cambridge University Press, 2007.

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Case studies in genes and disease: A primer for clinicians. Philadelphia: American College of Physicians, 2004.

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Wiwanitkit, Viroj. Genes and nutrition. Hauppauge, NY: Nova Science, 2009.

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Cornish, Kim. Attention, genes, and developmental disorders. Oxford: Oxford University Press, 2010.

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Genes, chromosomes, and disease: From simple traits, to complex traits, to personalized medicine. Upper Saddle River, New Jersey: FT Press Science, 2011.

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McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. Baltimore: John Hopkins University Press, 1994.

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McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. Baltimore: Johns Hopkins University Press, 1994.

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Mendelian inheritance in man: A catalog of human genes and genetic disorders. Baltimore: Johns Hopkins University Press, 1994.

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McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. Baltimore: Johns Hopkins University Press, 1998.

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International Symposium on Human Origins and Genetics (2005 National Centre for Biological Sciences). Genes, evolution, and complex disease: An International Symposium on Human Origins and Genetics, February 17-19, 2005, National Centre for Biological Sciences, Bangalore, India. Bangalore: National Centre for Biological Sciences, Tata Institute of Fundamental Research, 2005.

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Book chapters on the topic "Genetic disorders; Disease genes"

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Aguiar, R. C. T., and P. L. M. Dahia. "Identification and Characterization of Disease-Related Genes: Focus on Endocrine Neoplasias." In Genetic Disorders of Endocrine Neoplasia, 20–49. Basel: KARGER, 2001. http://dx.doi.org/10.1159/000061046.

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Battaglia, Marco, Cecilia Marino, Michel Maziade, Massimo Molteni, and Francesca D'Amato. "Gene-Environment Interaction and Behavioral Disorders: A Developmental Perspective Based on Endophenotypes." In Genetic Effects on Environmental Vulnerability to Disease, 31–47. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/9780470696781.ch3.

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Bates, G., and H. Lehrach. "Molecular Approaches Toward the Isolation of the Huntington’s Disease Gene." In Genetic Approaches in the Prevention of Mental Disorders, 65–73. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-07421-3_7.

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Sadiq, Alia, Nonhlanhla P. Khumalo, and Ardeshir Bayat. "Genetics of Keloid Scarring." In Textbook on Scar Management, 61–76. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-44766-3_8.

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AbstractKeloid disease is a benign fibro-proliferative reticular dermal tumor that develops in response to dysregulated cutaneous wound-healing process. The key alterations result in keloid formation have not been fully understood yet.Extensive literature review suggests that there is a strong genetic predisposition for keloid formation as keloid cases have appeared in twins, families, Asian and African descendant ethnic groups predominantly. Thus, there have been several attempts to investigate the genetic variations that may act as contributing factors in keloid pathogenesis, but no single genetic cause has been identified so far. Gene expression studies have shown highly variable results in linkage analysis of keloid families and in keloid fibroblasts. These findings provide clues that keloids arise from heterogeneous genetic events in coordination with immune-related components for example, the Major Histocompatibility Complex genes, consequently that may contributing towards dermal fibrosis. In addition, it is likely that multiple genetic and epigenetic factors are responsible for the development of the disease pathology. In summary, keloid disease is a disorder in which the exact genetic contribution to pathogenesis is yet to be elucidated. Understanding the genetic basis of keloid disease would help to identify targeted therapies as well as accurately assess individual genetic susceptibility to keloids, in order to provide a more personalized approach to their management.

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Thornalley, Paul J., and Naila Rabbani. "Thiamine in Diabetic Renal Disease: Dietary Insufficiency, Renal Washout, Antistress Gene Response, Therapeutic Supplements, Risk Predictor, and Link to Genetic Susceptibility." In Studies on Renal Disorders, 93–104. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-857-7_5.

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Wahlström, Jan. "Gene Map of Neuropsychiatric Disorders." In Genetics of Neuropsychiatric Diseases, 7–24. London: Macmillan Education UK, 1989. http://dx.doi.org/10.1007/978-1-349-10729-2_2.

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Ordovas, Jose M., Fernando Civeira, Carmen Garces, and Miguel Pocovi. "Genetic Variation at the APOA-I, C-III, A-IV Gene Complex: A Critical Review of the Associations Between the PSTI and SSTI RFLPS at this Locus with Lipid Disorders." In DNA Polymorphisms as Disease Markers, 91–103. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3690-1_9.

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Angelini, Corrado. "Brody Disease." In Genetic Neuromuscular Disorders, 235–38. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_62.

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Angelini, Corrado. "Danon Disease." In Genetic Neuromuscular Disorders, 261–64. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_68.

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Angelini, Corrado. "Brody Disease." In Genetic Neuromuscular Disorders, 199–202. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_46.

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Conference papers on the topic "Genetic disorders; Disease genes"

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Nikolaeva, Elena I. "Genetics and psychophysiology of ADHD and autism." In 2nd International Neuropsychological Summer School named after A. R. Luria “The World After the Pandemic: Challenges and Prospects for Neuroscience”. Ural University Press, 2020. http://dx.doi.org/10.15826/b978-5-7996-3073-7.12.

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The paper discusses the brain mechanisms of autism and attention deficit hyperactivity disorder. It is shown that these disorders are associated with different genetic causes that create certain psychophysiological mechanisms. Nevertheless, their diagnosis is interrelated. Moreover, a child is often first diagnosed with ADHD, and then the diagnosis is changed to “autism spectrum disease”. Among the most common causes of the disease is the behavior of retrotransposons. Retrotransposons (also called transposons via intermediate RNA) are genetic elements that can amplify themselves in the genome. These DNA sequences use a “copy and paste” mechanism, whereby they are first transcribed into RNA and then converted back to identical DNA sequences via reverse transcription, and these sequences are then inserted into the genome at target sites. In humans, retro elements take up 42 % of the DNA. The conclusion is made that for the formation of an individual profile of gene expression in the neuron, the most important is the phenomenon of somatic mosaicism, due to the process of L1 retrotransposition, in addition to the classical described mechanisms of differentiation. The number of such events and their localization is significant as they are likely to contribute to the development of both autism and ADHD.

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Ngo, K. Y., D. Lynch, J. Gitscher, N. Ciavarella, Z. Ruggeri, and T. Zimmerman. "HOMOZYGOUS AND HETEROZYGOUS COMPLETE DELETIONS OF THE VON WILLEBRAND FACTOR GENE CODING REGION IN SEVERE VON WILLEBRAND DISEASE AND CARRIERS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643931.

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Severe von Willebrand disease (vWD) is characterized by undetectable levels of von Willebrand factor (vWF), or trace amounts, in plasma and tissue stores. We have studied the genomic DNA of ten affected individuals from five families with this disorder using two cDNA probes. One probe extended from 175 base pairs of the 5’ untranslated region to the nucleotides encoding amino acid 618 of pro-vWF; the second extended from the nucleotides encoding amino acid 2225 of pro-vWF to 100 bp into the 3’ untranslated region. Three variants of the disorder were identified. Southern blots of restriction endonuclease digests and slot blots of undigested genomic DNA showed complete homozygous deletion of the vWF gene coding region in four affected siblings, three of whom had developed allo-antibodies. Gene dosage analysis performed with slot blots and laser densitometry were consistent with complete heterozygous deletions in both parents. The second variant was characterized by a complete heterozygous deletion of the vWF gene coding region in the propositus and one asymptomatic parent, suggesting that a different type of genetic abnormality was inherited from the other parent and that the patient was doubly heterozygous for distinct genetic abnormalities affecting vWF. In a third variant, no abnormalities could be detected. These techniques should prove useful in identifying carriers of severe vWD and also defining patients at risk of developing allo-antibodies to vWF.

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Al-Mohannadi, Anjud Khamis, Sara Deola, and Ahmed Malki. "Visualization of Factor Viii with Flow-Cytometry as a tool for Novel Gene Therapy Approach in Hemophilia A." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0164.

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Haemophilia A is a genetic X-linked disorder, characterized by coagulation Factor VIII (FVIII) deficiency and leading to pathological bleedings. The disease occurs at a rate of 1 in 5000 males’ births. The treatment is the administration of plasma-derived or recombinant Factor VIII, which is expensive and leads to the development of inhibitory antibodies in around 40% of patients affected by the severe form of the disease. The disease becomes for these patients as life threatening. In new approaches to treat Haemophilia include gene therapy (GT), cells corrected through genetic modifications are used to produce in Haemophilia A patients FVIII protein in a sustained manner, as long-term treatment for this disorder. The cells of choice should be persistent and equipped with themachinery for large protein assembly and secretion. So far, target cells for Haemophilia gene correction are mostly liver cells, although they are highly immunogenic and exposed to immune-mediated destruction after GT. Based on literature evidences, bone marrow transplantation can correct Haemophilia A in mice, providing evidence that Hematopoietic stem cells (HSC) or their progeny are able to produce FVIII. We chose the approach of correcting HSC with lentiviral vectors carrying the FVIII gene cassette. Whereas classically FVIII protein is visualized on adherent cells through immunohistochemistry staining, flow-cytometry (FC) literature publications are very scarce. FC analysis is an attractive method for analysing hematopoietic cells, and in general, a versatile method for protein visualization. However, large proteins as FVIII are difficult to be carefully analysed, and the method requires several steps of optimization. This joint project with Dr. Muhammad Elnaggar, aims to optimize a method to characterize large proteins as FVIII with a reliable FC staining protocol. To this aim, we used cell lines to evaluate the expression and secretion pathways of FVIII, the intracellular requirements to fold and secrete large proteins, and the toxicities of protein accumulation, in case of GT mediated protein overexpression. For this purpose, the FC experiments were performed to optimise the FC protocol for FVIII visualization, by improving blocking efficacy, antibody-labelling efficacy and to ensure accuracy and validity through qPCR and FC double staining. This FC protocol proved its validity and usefulness in visualizing and studying functionally FVIII.

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Trachet, Bram, Daniel Devos, Julie De Backer, Anne De Paepe, Bart L. Loeys, and Patrick Segers. "Patient-Specific Modelling of Aortic Arch Wall Shear Stress Patterns in Patients With Marfan Syndrome." In ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206340.

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Marfan syndrome (MFS) is a genetic connective tissue disorder with a high prevalence of aortic aneurysm formation (a pathological dilatation of the aorta), typically at the aortic root. The disorder is caused by mutations in the gene encoding fibrillin-1 [1]. Recently, it has been shown in mouse models that selected manifestations of MFS, such as aortic aneurysm formation, can be explained by excessive signaling by the transforming growth factor–beta (TGF-beta) family of cytokines [2]. Although the footprint of the disease is clearly genetic, there is still a role for (computational) biomechanics and hemodynamics to elucidate why aneurysms develop preferentially at the level of the aortic root, since the genetic defect affects the entire (arterial) system. One of the most obvious parameters to study is the arterial wall shear stress (WSS). WSS plays an important role in the regulation of the vascular system and is considered a significant factor in the development and progression of cardiovascular disease in humans. Low and/or oscillating values of WSS have been associated with the formation of atherosclerotic lesions [3] and with the growth of aneurysms [4]. It is, however, hard to show a link between low WSS and aneurysm initiation, since in most cases the geometrical and physiological data are lacking during the first and most important stages of the aneurysm development. Furthermore follow-up studies in human patients are difficult, since aneurysms grow very slowly (only 0.9 mm/year in MFS patients treated with beta-blockers) and it will take several years before significant changes will have taken place. Therefore, in this study, we have computed the aortic flow field and WSS patterns for 5 different MFS patients with ages varying from 14 to 54 years old, in order to get an idea about the effect of age on the development of the disease.

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Brew, Bronwyn, Tong Gong, Cecilia Lundholm, Henrik Larsson, and Catarina Almqvist. "Is there a genetic association between atopic disease and internalizing disorders in children?" In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.oa503.

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McAllister, Branduff, Sergey Lobanov, Thomas Massey, Lesley Jones, and Peter Holmans. "C07 Genetic risk for psychiatric disorders is associated with psychiatric and cognitive huntington’s disease symptoms." In EHDN Abstracts 2021. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/jnnp-2021-ehdn.31.

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Antonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.

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Hemophilia A is a common X linked hereditary disorder of blood coagulation due to deficiency of factor 8. The gene for factor 8 has been cloned and characterized (Nature 312:326-342, 1984). It is divided into 26 exons and 25 introns and spans 186 kb of DNA. The CGNA is 9 kb and codes for 2351 amino acids. The first 19 amino acids comprise the secretory leader peptide and the mature excreted polypeptide consists of 2332 amino acids. The nucleotide sequence of the exons and the exon-intron junctions is known and the complete amino acid sequence has been deducedSeveral laboratories have used cloned factor 8 DNA sequences as probes to characterized mutations that are responsible for hemophilia A in certain pedigrees. These mutations have been characterized by restriction analysis, oligonucleotide hybridization, cloning and sequencing of DNA from appropriate patientsIn about 500 patients with hemophilia A examined, the molecular defect has been recognized in 39. Both gross alterations (mainly deletions) and point mutations of the factor 8 gene have been found.A total of 19 different deletions have been observed. No two unrelated pedigrees share the same exact deletion.The size of the deleted DNA varies from 1.5 kb to more than 210 kb. All but one of these deletions are associated with severe hemophilia A. A deletion of 6 kb that contains exon 22 only is associated with moderate hemophilia. Some deletions are present in patients with inhibitors to factor 8. No correlation of the size or the position of the deletions can be found with the presence of inhibitors to factor 8.A total of 20 point mutations have been characterized. All are recognized by restriction analysis and involve Taq I sites. All are mutations of CpG dinucleotides and generate nonsense or missence codons. Unrelated pedigrees have the same single nucleotide change because of independent origin of the same mutation. In many instances de novo occurrence of a point mutation has been observed. CpG dinucleotides are hot spots for mutation to TG or CA presumably because of spontaneous deamination of methylcytosine. Some point mutations are present in patients with inhibitors but no correlation of the site of mutation and inhibitor formation has been found. The nonsense mutations are present in patients with severe hemophilia A. A missense mutation (Arg Gin) in exon 26 was found in a patient with mild hemophilia while another Arg Gin mutation in exon 24 has been observed in a patient with severe disease. The creation of a donor splice site in IVS 4 of factor 8 gene has been observed in a patient with mild hemophilia.Few DNA polymorphisms within the factor 8 gene and two other closely linked polymorphisms have been used for carrier detection and prenatal diagnosis of hemophilia A. These DNA markers are useful in more than 90% of families at risk for hemophilia A.The author thanks Drs. Gitschier, Din, Olek, Pirastou, Lawn for communication of their data prior to publication.The hemophilia project at Johns Hopkins was supported by an Institutional grant and NIH grant to S.S.A. and Haig H. Kazazian, Jr.

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Herbst, C., J. Kühnisch, N. Al-Wakeel-Marquard, F. Degener, J. Dartsch, D. Messroghli, F. Berger, and S. Klaassen. "Systematic Analysis of Cardiac Disease Genes Reveals Genetic Variants in PRDM16 as Important Cause of cardiomyopathies." In 51st Annual Meeting German Society for Pediatric Cardiology. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1679065.

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Sadler, J. Evan. "THE MOLECULAR BIOLOGY OF VON WILLEBRAND FACTOR." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643930.

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Human von Willebrand factor (vWF) is a plasma glycoprotein that is synthesized by endothelial cells and megakaryocytes, and perhaps by syncytiotrophoblast of placenta. The biosynthesis of vWF is very complex, involving proteolytic processing, glycosyla-tion, disulfide bond formation, and sulfation. Mature vWF consists of a single subunit of ∼ 250,000 daltons that is assembled into multimer ranging from dimers to species of over 10 million daltons. vWF performs its essential hemostatic function through several binding interactions, forming a bridge between specific receptors on the platelet surface and components of damaged vascular subendothelial connective tissue. Inherited deficiency of vWF, or von Willebrand disease (vWD), is the most common genetically transmitted bleeding disorder worldwide. The last two years has been a time of very rapid progress in understanding the molecular biology of vWF. Four research groups have independently isolated and sequenced the 9 kilobase full-length vWF cDNA. The predicted protein sequence has provided a foundation for understanding the biosynthetic processing of vWF, and has clarified the relationship between vWF and a 75-100 kilodalton plasma protein of unknown function, von Willebrand antigen II (vWAgll)/ vWAgll is co-distributed with vWF in endothelial cells and platelets, and is deficient in patients with vWD. The cDNA sequence of vWF shows that vWAgll is a rather large pro-peptide for vWF, explaining the biochemical and genetic association between the two proteins. vWF has a complex evolutionary history marked by many separate gene segment duplications. The primary structure of the protein contains four distinct types of repeated domains present in two to four copies each. Repeated domains account for over 90 percent of the protein sequence. This sequence provides a framework for ordering the functional domains that have been defined by protein chemistry methods. A tryptic peptide from the amino-terminus of vWF that overlaps domain D3 binds to factor VIII and also appears to bind to heparin. Peptides that include domain A1 bind to collagens, to heparin, and to platelet glycoprotein Ib. A second collagen binding site appears to lie within domain A3. The vWF cDNA has been expressed in heterologous cells to produce small amounts of functionally and structurally normal vWF, indicating that endothelial cells are not unique in their ability to process and assemble vWF multimers. Site-directed mutagenesis has been used to show that deletion of the propeptide of vWF prevents the formation of multimers. Cloned cDNA probes have been employed to isolate vWF genomic DNA from cosmid and λ-phage libraries, and the size of the vWF gene appears to be ∼ 150 kilobases. The vWF locus has been localized to human chromosome 12p12—pter. Several intragenic RFLPs have been characterized. With them, vWF has been placed on the human genetic linkage map as the most telomeric marker currently available for the short arm of chromosome 12. A second apparently homologous locus has been identified on chromosome 22, but the relationship of this locus to the authentic vWF gene is not yet known. The mechanism of vWD has been studied by Southern blotting of genomic DNA with cDNA probes in a few patients. Three unrelated pedigrees have been shown to have total deletions of the vWF gene as the cause of severe vWD (type III). This form of gene deletion appears to predispose to the development of inhibitory alloantibodies to vWF during therapy with cryoprecipitate. During the next several years recombinant DNA methods will continue to contribute our understanding of the evolution, biosynthesis, and structure-function relationships of vWF, as well as the mechanism of additional variants of vWD at the level of gene structure.

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Zhou, H., K. Ma, G. Jia, J. Zoval, and M. Madou. "Micro Contact Printing of DNA Molecules." In ASME 2004 3rd Integrated Nanosystems Conference. ASMEDC, 2004. http://dx.doi.org/10.1115/nano2004-46060.

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The development of DNA sensors has attracted substantial research efforts. Such devices could be used for the rapid identification of pathogens in humans, animals, and plant; in the detection of specific genes in animal and plant breeding; and in the diagnosis of human genetic disorders. The first step to fabricate the DNA sensors is the probe immobilization on the suitable substrate. Traditionally, the DNA probes are spotted on the substrate while the technique hardly controlled the small pattern and surface density of DNA probes. The main challenge here is to achieve probe layer uniformity and the nature of the probe layer itself in few micron and sub-micron feature range.

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Reports on the topic "Genetic disorders; Disease genes"

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Tuggle, Christopher K., Xian-wei Shi, Lena Marklund, Amber Stumbaugh, Thomas J. Stabel, Martha A. Mellencamp, Lucina Galina-Pantoja, and John Bastiaansen. Association of bacterial infection traits with genetic variation at candidate genes for porcine disease resistance. Ames (Iowa): Iowa State University, January 2004. http://dx.doi.org/10.31274/ans_air-180814-30.

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