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Letteratura scientifica selezionata sul tema "Genetic disorders"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 29 luglio 2024

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Articoli di riviste sul tema "Genetic disorders"

1

RUTTER, MICHAEL. "Pathways of genetic influences on psychopathology". European Review 12, n. 1 (febbraio 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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2

Souery, D., I. Massat e J. Mendlewicz. "Genetics of bipolar disorders". Acta Neuropsychiatrica 12, n. 3 (settembre 2000): 65–68. http://dx.doi.org/10.1017/s0924270800035420.

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ABSTRACTAdvances towards the understanding of the etiological mechanisms involved in mood disorders provide interesting yet diverse hypotheses and promising models. In this context, molecular genetics has now been widely incorporated into genetic epidemiological research in psychiatry. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome, specific hypotheses such as mutations have also been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of BPAD. Other studies have reported the presence of anticipation in BPAD. This phenomenon describes the increase in clinical severity and decrease in age of onset observed in successive generations. This mode of transmission correlates with the presence of specific mutations (Trinucleotide Repeat Sequences) and may represent a genetic factor involved in the transmission of the disorder. In parallel to these new developments in molecular genetics, the classical genetic epidemiology, represented by twin, adoption and family studies, provided additional evidence in favour of the genetic hypothesis in mood disorders. Moreover, these methods have been improved through models to test the gene-environment interactions. While significant advances have been made in this major field of research, it appears that integrative models, taking into account the interactions between biological (genetic) factors and social (psychosocial environment) variables offer the most reliable way to approach the complex mechanisms involved in the etiology and outcome of mood disorders.

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3

Pinheiro, Andréa Poyastro, Patrick F. Sullivan, Josue Bacaltchuck, Pedro Antonio Schmidt do Prado-Lima e Cynthia M. Bulik. "Genetics in eating disorders: extending the boundaries of research". Revista Brasileira de Psiquiatria 28, n. 3 (9 agosto 2006): 218–25. http://dx.doi.org/10.1590/s1516-44462006005000004.

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OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

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4

Mokhtar, M. M., S. M. Kotb e S. R. Ismail. "Autosomal recessive disorders among patients attending the genetics clinic in Alexandria". Eastern Mediterranean Health Journal 4, n. 3 (15 maggio 1998): 470–79. http://dx.doi.org/10.26719/1998.4.3.470.

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A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01] A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]

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5

Domschke, K. "Genetics in anxiety disorders - an update". European Psychiatry 26, S2 (marzo 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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6

Keller, Matthew C., e Geoffrey Miller. "Resolving the paradox of common, harmful, heritable mental disorders: Which evolutionary genetic models work best?" Behavioral and Brain Sciences 29, n. 4 (agosto 2006): 385–404. http://dx.doi.org/10.1017/s0140525x06009095.

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Given that natural selection is so powerful at optimizing complex adaptations, why does it seem unable to eliminate genes (susceptibility alleles) that predispose to common, harmful, heritable mental disorders, such as schizophrenia or bipolar disorder? We assess three leading explanations for this apparent paradox from evolutionary genetic theory: (1) ancestral neutrality (susceptibility alleles were not harmful among ancestors), (2) balancing selection (susceptibility alleles sometimes increased fitness), and (3) polygenic mutation-selection balance (mental disorders reflect the inevitable mutational load on the thousands of genes underlying human behavior). The first two explanations are commonly assumed in psychiatric genetics and Darwinian psychiatry, while mutation-selection has often been discounted. All three models can explain persistent genetic variance in some traits under some conditions, but the first two have serious problems in explaining human mental disorders. Ancestral neutrality fails to explain low mental disorder frequencies and requires implausibly small selection coefficients against mental disorders given the data on the reproductive costs and impairment of mental disorders. Balancing selection (including spatio-temporal variation in selection, heterozygote advantage, antagonistic pleiotropy, and frequency-dependent selection) tends to favor environmentally contingent adaptations (which would show no heritability) or high-frequency alleles (which psychiatric genetics would have already found). Only polygenic mutation-selection balance seems consistent with the data on mental disorder prevalence rates, fitness costs, the likely rarity of susceptibility alleles, and the increased risks of mental disorders with brain trauma, inbreeding, and paternal age. This evolutionary genetic framework for mental disorders has wide-ranging implications for psychology, psychiatry, behavior genetics, molecular genetics, and evolutionary approaches to studying human behavior.

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7

Souery, D., e J. Mendlewicz. "New molecular genetic findings in the genetics of affective disorders". Acta Neuropsychiatrica 9, n. 2 (giugno 1997): 52–54. http://dx.doi.org/10.1017/s0924270800036784.

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Abstract (sommario):

Molecular genetics has now been widely incorporated into genetic epidemiological research in psychiatry. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome. Specific hypotheses such as mutations have also been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of BPAD. These include genes on chromosomes 18, 21, 4, 5, 11 and X. Other studies have reported the presence of anticipation in BPAD and in unipolar affective disorder (UPAD). This phenomenon describes the increase in clinical severity and decrease in age of onset observed in successive generations. This mode of transmission correlates with the presence of specific mutations (trinucleotide repeat sequences). Associations with these mutations have been reported in different populations of BPAD-patients and may represent a genetic factor involved in the transmission of the disorder.These findings are all preliminary and require to be confirmed. Large multi-centres and multi-disciplinary projects are currently underway in Europe and in the US and hopefully will improve our understanding of the genetic factors involved in affective disorders. In addition, genetic approaches used in psychiatry are being combined with an assessment of non-genetic susceptibility factors. The investigation of interactions between gene and environment is one of the most promising areas dealing with complex multi-factorial diseases such as the affective disorders.

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8

Souery, D., e J. Mendlewicz. "Molecular genetic findings in mood disorders". Acta Neuropsychiatrica 11, n. 2 (giugno 1999): 67–70. http://dx.doi.org/10.1017/s092427080003619x.

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Traditional methods used to asses genetic effects, such as twins, adoption and family studies, have demonstrated the role genetic vulnerability factors in the etiology of major psychiatric diseases such as affective disorders and schizophrenia. It remains however impossible, using these methods, to specify the genetic variables involved and the exact mode of transmission of these diseases. New genetic approaches in psychiatry include the use of DNA markers in sophisticated strategies to examine families and populations. Genetic linkage (in families) and allelic association (in unrelated subjects) are the most frequent techniques applied searching for genes in psychiatric diseases. Advances in these methods have permitted their application to complex diseases in which the mode of genetic transmission is unknown. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome, specific hypotheses such as mutations have also, been studied. Most recent studies indicate that several chromosomal regions may be involved in the aetiology of affective disorders. Large multi-centre and multi-disciplinary projects are currently underway in Europe and in the US and hopefully will improve our understanding of the genetic factors involved in affective disorders. In parallel to these new developments in molecular genetics, the classical genetic epidemiology, represented by twin, adoption and family studies, have been improved, providing validated models to test the gene-environment interactions.

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9

Radonjić, Nevena V., Jonathan L. Hess, Paula Rovira, Ole Andreassen, Jan K. Buitelaar, Christopher R. K. Ching, Barbara Franke et al. "Structural brain imaging studies offer clues about the effects of the shared genetic etiology among neuropsychiatric disorders". Molecular Psychiatry 26, n. 6 (17 gennaio 2021): 2101–10. http://dx.doi.org/10.1038/s41380-020-01002-z.

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AbstractGenomewide association studies have found significant genetic correlations among many neuropsychiatric disorders. In contrast, we know much less about the degree to which structural brain alterations are similar among disorders and, if so, the degree to which such similarities have a genetic etiology. From the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) consortium, we acquired standardized mean differences (SMDs) in regional brain volume and cortical thickness between cases and controls. We had data on 41 brain regions for: attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BD), epilepsy, major depressive disorder (MDD), obsessive compulsive disorder (OCD), and schizophrenia (SCZ). These data had been derived from 24,360 patients and 37,425 controls. The SMDs were significantly correlated between SCZ and BD, OCD, MDD, and ASD. MDD was positively correlated with BD and OCD. BD was positively correlated with OCD and negatively correlated with ADHD. These pairwise correlations among disorders were correlated with the corresponding pairwise correlations among disorders derived from genomewide association studies (r = 0.494). Our results show substantial similarities in sMRI phenotypes among neuropsychiatric disorders and suggest that these similarities are accounted for, in part, by corresponding similarities in common genetic variant architectures.

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10

Dennison, Charlotte A., Sophie E. Legge, Matthew Bracher-Smith, Georgina Menzies, Valentina Escott-Price, Daniel J. Smith, Aiden R. Doherty, Michael J. Owen, Michael C. O’Donovan e James T. R. Walters. "Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank". PLOS ONE 16, n. 3 (26 marzo 2021): e0249189. http://dx.doi.org/10.1371/journal.pone.0249189.

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Levels of activity are often affected in psychiatric disorders and can be core symptoms of illness. Advances in technology now allow the accurate assessment of activity levels but it remains unclear whether alterations in activity arise from shared risk factors for developing psychiatric disorders, such as genetics, or are better explained as consequences of the disorders and their associated factors. We aimed to examine objectively-measured physical activity in individuals with psychiatric disorders, and assess the role of genetic liability for psychiatric disorders on physical activity. Accelerometer data were available on 95,529 UK Biobank participants, including measures of overall mean activity and minutes per day of moderate activity, walking, sedentary activity, and sleep. Linear regressions measured associations between psychiatric diagnosis and activity levels, and polygenic risk scores (PRS) for psychiatric disorders and activity levels. Genetic correlations were calculated between psychiatric disorders and different types of activity. Having a diagnosis of schizophrenia, bipolar disorder, depression, or autism spectrum disorders (ASD) was associated with reduced overall activity compared to unaffected controls. In individuals without a psychiatric disorder, reduced overall activity levels were associated with PRS for schizophrenia, depression, and ASD. ADHD PRS was associated with increased overall activity. Genetic correlations were consistent with PRS findings. Variation in physical activity is an important feature across psychiatric disorders. Whilst levels of activity are associated with genetic liability to psychiatric disorders to a very limited extent, the substantial differences in activity levels in those with psychiatric disorders most likely arise as a consequences of disorder-related factors.

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Tesi sul tema "Genetic disorders"

1

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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2

Fung, Hon Chung. "Genetic characterisation of neurodegenerative disorders". Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/4930/.

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Our global population is ageing and an ever increasing number of elderly are affected with neurodegenerative diseases, including the subjects of the studies in this work, Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). On strong evidence that several genes may influence the development of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseases. It has been shown that the common genetic variation of one of these susceptibility genes, MAPT, that of the microtubule associated protein, tau, is an important genetic risk factor for neurodegenerative diseases. There are two major MAPT haplotypes at 17q21.31 designated as H1 and H2. In order to dissect the relationship between MAPT variants and the pathogenesis of neurodegenerative diseases, the architecture and distribution the major haplotypes of MAPT have been assessed. The distribution of H2 haplotype is almost exclusively in the Caucasian population, with other populations having H2 allele frequencies of essentially zero. A series of association studies of common variation of MAPT in PSP, CBD, AD and PD in different populations were performed in this work with the hypothesis that common molecular pathways are involved in these disorders. Multiple common variants of the H1 haplotypes were identified and one common haplotype, H1c, showed preferential association with PSP and AD. A whole-genome association study of PD was also undertaken in this study in order to detect if common genetic variability exerts a large effect in risk for disease in idiopathic PD. Twenty six candidate loci have been found in this whole-genome association study and they provide the basis for our investigation of disease causing genetic variants in idiopathic PD.

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3

Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders". Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.

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Background: Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of making the diagnosis accurately early in the course and the lack of reliable disease progression markers which could be used in future treatment trials. Transcranial magnetic stimulation (TMS) is a non-invasive and pain-free method for assessment of brain function. Methods: Here we evaluated TMS and its potential of serving as a reliable biomarker for neurodegenerative diseases with genetic cause. After clinical delineation of our patient cohorts with Huntington's chorea and young-onset Parkin-related Parkinsonism, we enrolled both patients as well as asymptomatic/presymptomatic gene-carriers. Patients, carriers and age-matched healthy controls were studied using TMS to establish an electrophysiological footprint of these conditions. Results: We found abnormalities in electrophysiological parameters which were present in manifesting patients and/or non-manifesting gene mutation carriers. In HD, both presymptomatic and early manifest patients had increased resting and active motor cortex thresholds. Short afferent inhibition (SAI), a measure of sensory-motor integration, was reduced in manifesting patients only. SAI changes were inversely correlated with clinical parameters like predicted years to onset and UHDRS motor score. Abnormalities in Parkin patients included prolonged central motor conduction time (CMCT), while thresholds and cortical inhibitory activity were normal. Asymptomatic carriers had increased motor thresholds and abnormal inhibitory measures (SICI recruitment) while CMCT was normal. Conclusion: We conclude that TMS may be a potential biomarker for neurodegenerative genetic diseases: 1) to detect changes early in the disease course and to monitor disease progression; 2) to help differentiating between clinically similar diseases on the basis of certain electrophysiological patterns; and 3) to give insight into underlying mechanisms of the disorders studied. Our findings suggest the potential for future research.

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4

Migdalska, Anna Marta. "Modelling human genetic disorders in mice". Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610341.

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5

Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate". Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.
Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).

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6

Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases". Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variation and contribute to the understanding of the genetic architecture of disease. Besides exploring the role of rare and copy number variants in Parkinson’s disease (PD), we demonstrate the functional relation between Mendelian and idiopathic PD. In the last paper, we report that variation in genes previously related to Mendelian disorders has a more important role in driving complex disease susceptibility than genes associated only to complex diseases.
Des de l'Origen de les Espècies de Darwin van passar molts anys abans que les malalties humanes fossin considerades sota un marc evolutiu. Tanmateix, tot i els darrers avenços teòrics i empírics, estem molt lluny de tenir una comprensió completa de l'etiologia de les malalties humanes. Mentre els trastorns altament penetrants amb herència mendeliana poden explicar-se sota un model d’equilibri mutació-selecció, aquest és insuficient per descriure les pressions selectives que actuen sobre tot el conjunt d'al·lels associats a malalties. Mostrem en els dos primers treballs que les noves tecnologies de seqüenciació proporcionen una oportunitat única per investigar la variació i contribuir a la comprensió de l'arquitectura genètica de la malaltia. A més d'explorar el paper de les variants rares i en el nombre de còpies en la malaltia de Parkinson (PD), demostrem la relació funcional entre les formes mendelianes i idiopàtiques d’aquesta malaltia. En el darrer treball, mostrem sota una perspectiva evolutiva i funcional que, en comparació amb la variació genètica en gens associats només a malalties complexes, la variació en gens prèviament relacionats amb trastorns Mendelians sembla tenir un paper clarament més important en la susceptibilitat a la malaltia complexa.

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7

Valente, Enza Maria. "Movement disorders : a clinical and genetic study". Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.

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8

Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders". Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide association study that identified more than 13 new genetic risk regions influencing susceptibility to coeliac disease are presented. Results of a genome wide association study of azathioprine and 6-mercaptopurine-induced pancreatitis in inflammatory bowel disease-affected individuals are presented. Finally, a cell cytokine release assay for the prostaglandin EP4 receptor was developed, with a view to investigating how SNPs associated with Crohn’s disease in the 5p13.1 region influence EP4 receptor signalling and contribute to disease pathogenesis. This work highlights some of the challenges in moving from SNP-disease associations identified in GWASs to understanding how genetic variants change biological processes.

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Liskova, P. "Molecular genetic study of inherited corneal disorders". Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18007/.

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The inherited corneal diseases form a clinically and genetically heterogeneous group of disorders. They include the various types of progressive corneal dystrophies as well as some corneal structural abnormalities for which there is thought to be a genetic basis. These conditions are distinct from the corneal degenerations that result solely from aging or environmental effects. In this thesis I have concentrated on some selected inherited disorders. To try to improve our understanding of the disease mechanisms I have phenotyped affected families, performed candidate gene screening, and made genotype-phenotype correlations. I have collected the largest cohort of families with keratoconus reported to date and probands were screened for mutations in the VSX1 gene previously reported to be associated with this disorder. No disease-causing mutations were identified confirming that this gene only plays a very minor role in the pathogenesis of keratoconus. In a white British family with cornea plana the c.740A>G mutation within the KERA gene was identified and evidence was sought for a common founder with previously reported Finnish patients with cornea plana. One novel mutation was found and common founder in some of the cases was suggested. Disease-causing changes were found in seven Czech families with anterior and stromal corneal dystrophies known to be associated with the TGFBI gene and, of great interest, was a novel phenotype in a family with a p.H626P change. A set of Czech families with macular corneal dystrophy was screened for mutations in the CHST6 gene. In one British family with early-onset Fuchs endothelial corneal dystrophy we demonstrated a previously reported p.L450W mutation in the COL8A2 gene. Finally, by screening all three known genes implicated in posterior polymorphous corneal dystrophy four novel mutations were identified in the ZEB1 gene which provides additional evidence for the genetic heterogeneity of this disorder.

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Chen, Huijia. "Skin barrier dysfunction in common genetic disorders". Thesis, University of Dundee, 2011. https://discovery.dundee.ac.uk/en/studentTheses/37ccdf72-e6b2-43e2-b5a0-954be5cb6811.

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One of the most important roles of the skin is the formation of an effective barrier to prevent desiccation as well as to keep out foreign pathogens and allergens. This is a tightly regulated process and involves many structural proteins, lipids, enzymes and biochemical components. One of the proteins that has an indispensable role in barrier formation is filaggrin, which is encoded by the filaggrin gene (FLG) that lies within a cluster of epidermal genes known as the epidermal differentiation complex (EDC) on chromosome 1q21. Recent studies in Europe have shown that null mutations in FLG lead to the loss of the filaggrin protein; this is the underlying genetic cause of ichthyosis vulgaris (IV) and is a significant predisposing factor for atopic dermatitis (AD) and other atopic conditions such as asthma, allergic rhinitis and food allergy. In this thesis, the critical role of FLG-null mutations was examined and confirmed as a strong predisposing factor for AD in Singaporean Chinese patients. In addition, AD patients with FLG mutations also showed an increased susceptibility for recurrent skin infections. Interestingly, a diverse and wide spectrum of FLG-null mutations was identified in the Singaporean Chinese population, as opposed to the dominance of a few common FLG mutations in Europe. This result highlighted discrete genetic variations between different ethnic groups. FLG-null mutations were also shown to have significant gene modifying effects on other skin barrier genes such as steroid sulphatase gene (STS) to exacerbate the phenotype of X-linked ichthyosis (XLI). Next, the effect of FLG¬-null mutations on other complex conditions such as acne vulgaris and childhood peanut sensitisation was investigated but no significant association of FLG mutations with these diseases were observed in the Singaporean Chinese population. Lastly, a study was attempted to search for a candidate gene for psoriasis within the EDC, through the use of fine mapping techniques. With the advent of faster and cheaper next generation sequencing (NGS) in the near future, the quest for susceptibility factors in complex traits will increase in effectiveness and speed.

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Più fonti

Libri sul tema "Genetic disorders"

1

Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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2

Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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3

Parks, Peggy J. Genetic disorders. San Diego, CA: ReferencePoint Press, 2009.

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4

Katherine, Swarts, a cura di. Genetic disorders. Detroit: Greenhaven Press, 2009.

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5

Shprintzen, Robert J. Genetics, syndromes, and communication disorders. San Diego: Singular Pub. Group, 1997.

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6

Angelini, Corrado. Genetic Neuromuscular Disorders. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-56454-8.

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7

Angelini, Corrado. Genetic Neuromuscular Disorders. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6.

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8

H, Fensom Anthony, a cura di. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.

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9

Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire]: Oxford University Press, 1985.

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Umair, Muhammad, Misbahuddin Rafeeq e Qamre Alam, a cura di. Rare Genetic Disorders. Singapore: Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-9323-9.

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Capitoli di libri sul tema "Genetic disorders"

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Massart, Mylynda Beryl. "Genetic Disorders". In Family Medicine, 205–16. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-04414-9_16.

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Bachman, John W. "Genetic Disorders". In Family Medicine, 138–45. New York, NY: Springer New York, 1998. http://dx.doi.org/10.1007/978-1-4757-2947-4_16.

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Bachman, John W. "Genetic Disorders". In Family Medicine, 141–48. New York, NY: Springer New York, 2003. http://dx.doi.org/10.1007/978-0-387-21744-4_16.

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Massart, Mylynda Beryl. "Genetic Disorders". In Family Medicine, 1–12. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-1.

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Massart, Mylynda Beryl. "Genetic Disorders". In Family Medicine, 1–15. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-2.

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Awaad, Yasser M. "Genetic Disorders". In Absolute Pediatric Neurology, 29–116. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-78801-2_3.

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Scahill, Lawrence David, Koorosh Kooros, Ramon Barinaga, Rechele Brooks, Marisela Huerta, Lindsey Sterling, Jeffrey J. Wood et al. "Genetic Disorders". In Encyclopedia of Autism Spectrum Disorders, 1432. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_100640.

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Chaitanya, K. V. "Genetic Disorders". In Diagnostics and Gene Therapy for Human Genetic Disorders, 81–115. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003343790-3.

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Laskaris, George, e Crispian Scully. "Genetic Disorders". In Periodontal Manifestations of Local and Systemic Diseases, 119–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-642-55596-1_16.

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Baum, Andrew S., e John P. Garofalo. "Genetic disorders." In Encyclopedia of Psychology, Vol. 3., 464–66. Washington: American Psychological Association, 2000. http://dx.doi.org/10.1037/10518-221.

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Atti di convegni sul tema "Genetic disorders"

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Lugo-Ramos, L. E., M. Collazo-Roman, D. De Sola e W. De Jesus-Rojas. "Case Series: Pediatric Sleep-Disordered Breathing in Rare Genetic Disorders". In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3481.

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Sen, Madhura, Rajkumar Rajasekaran, A. JayaRam Reddy e Govinda K. "Predicting Genetic Disorders: A Link Mining Approach". In 2024 International Conference on Intelligent and Innovative Technologies in Computing, Electrical and Electronics (IITCEE). IEEE, 2024. http://dx.doi.org/10.1109/iitcee59897.2024.10467830.

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Rogers, Ian, e Ranjan Srivastava. "Using ensemble modeling to determine causes of multifactorial disorders". In GECCO '18: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3205651.3205686.

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PONOMARI, Dorina. "Speech therapy assistance in the context of genetic disorders". In Ştiință și educație: noi abordări și perspective. "Ion Creanga" State Pedagogical University, 2023. http://dx.doi.org/10.46727/c.v1.24-25-03-2023.p179-184.

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Language presents a complex psychic process and many negative factors can affect it in its evolutionary path. These factors can be external psychosocial but also internal. Genetic disorders can mark to a greater or lesser extent the phenotype of the child with impact on the central nervous system and the speech apparatus. Children with some genetic conditions have difficulties in language development and often need speech therapy assistance, however early speech therapy intervention given at an early age will improve language development.

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Rülke, Franziska, Susan Arndt, Antje Aschendorff, Andreas Knopf e Ralf Birkenhäger. "Systematic characterization of non-syndromal genetic hearing disorders". In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1711205.

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Hanenberg, H. "Delivery systems for genetic therapies of hematological disorders". In HÄMATOLOGIE HEUTE 2019. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684056.

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BEZZINA, CONNIE R., e ARTHUR A. M. WILDE. "MOLECULAR, GENETIC AND CLINICAL ASPECTS OF ARRHYTHMIA DISORDERS". In Proceedings of the 31st International Congress on Electrocardiology. WORLD SCIENTIFIC, 2005. http://dx.doi.org/10.1142/9789812702234_0080.

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Kabeya, Yoshinori, Toshiya Iwamori, Sho Yonezawa, Yusuke Takeuchi, Hiroki Nakano, Yuhe Nagisa, Mariko Okubo et al. "Physician-Level Aggregated Classifier for Genetic Muscle Disorders". In 2019 IEEE 16th International Symposium on Biomedical Imaging (ISBI). IEEE, 2019. http://dx.doi.org/10.1109/isbi.2019.8759409.

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Chau, Ivan, Michel Tchan, Hugo Morales-Briceno e Shekeeb S. Mohammad. "2299 Genetic diagnoses of childhood onset movement disorders". In ANZAN Annual Scientific Meeting 2022 Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/bmjno-2022-anzan.85.

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Voinova, V. Y., M. A. M.A., O. S. Grosnova e S. V. Bochenkov. "Syndromic Forms of Children’s Mental Development Disorders". In Proceedings of III Research-to-Practice Conference with International Participation “The Value of Everyone. The Life of a Person with Mental Disorder: Support, Life Arrangements, Social Integration”. Terevinf, 2023. http://dx.doi.org/10.61157/978-5-4212-0676-7-2023-68-72.

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The molecular genetic basis of autism spectrum disorders (ASD) was analyzed in a cohort of more than 4,000 Russian patients with hereditary diseases. 88 children in the examined cohort had genetic variants, probably pathogenic or pathogenic, in genes associated with the development of ASD. Whole genome sequencing revealed 114 different molecular events that could be the cause of their disease. 60% of molecular events are annotated as variants of unclear clinical significance. The greatest number of variants was found in the CHD8 gene. Pathogenic variants in this gene are considered one of the most common causes of ASD. A functional analysis is required to reclassify the identified variants. The refined data can be used in medical genetic counseling, predicting the course of the disease and developing an individual rehabilitation program

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Rapporti di organizzazioni sul tema "Genetic disorders"

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Andrews, Lori, B. Complex Genetic Disorders and Intellectual Property Rights Final Report. Office of Scientific and Technical Information (OSTI), novembre 2006. http://dx.doi.org/10.2172/895052.

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Andrews, Lori. Ethical and legal issues arising from complex genetic disorders. DOE final report. Office of Scientific and Technical Information (OSTI), ottobre 2002. http://dx.doi.org/10.2172/805433.

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Saini, Ravinder, Syed Altafuddin, Sunil Vaddamanu, Vishwanath Gurumurthy e Masroor Kanji. The Association Between Genetic Factors and Temporomandibular Disorders: A Systematic Literature Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, aprile 2024. http://dx.doi.org/10.37766/inplasy2024.4.0063.

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Zhenni, Mu, Le Lei, Shen Sinan e Tang Li. Effectiveness of integrated Chinese herbal medicine Shoutai Pill and Western medicine in the treatment of recurrent pregnancy loss: A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, ottobre 2021. http://dx.doi.org/10.37766/inplasy2021.10.0062.

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Review question / Objective: We provide a protocol to evaluate the efficacy of integrated Shoutai Pill and Western medicine to update the evaluation for the best available and security treatment for recurrent pregnancy loss(RPL). Condition being studied: Recurrent pregnancy loss (RPL) is a distinct disorder defined by two or more consecutive pregnancy failures before 20 gestational weeks infertile couples. The incidence of this disease accounts for about 1%-5% of women of reproductive age and seriously affects their physical and psychological health. At present, the known etiology of this disease mainly includes abnormal anatomic structures, genetic abnormality, endocrine disorders, prethrombotic status, abnormal immune function, infection, etc. Excluding the above factors, approximately 40-50% of RPL remain unexplained, known as unexplained recurrent pregnancy loss (URPL). At present, the main therapeutic methods of RPL are surgical therapy, preimplantation genetic diagnosis (PGD), hormone therapy, anti-infection therapy, anticoagulation, and immunoregulatory therapy, etc. However, there is no effective treatment has been identified for URPL. Therefore, we still need to investigate effective treatments to reduce pregnancy losses and maintain successful pregnancy preservation in these patients.

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Figueredo, Luisa, Liliana Martinez e Joao Paulo Almeida. Current role of Endoscopic Endonasal Approach for Craniopharyngiomas. A 10-year Systematic review and Meta-Analysis Comparison with the Open Transcranial Approach. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, gennaio 2023. http://dx.doi.org/10.37766/inplasy2023.1.0045.

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Review question / Objective: To identify and review studies published in the last ten years, presenting the efficacy and outcomes of EEA and TCA for patients with cranio-pharyngiomas. Eligibility criteria: Studies meeting the following criteria were included: (a) retrospective and prospective studies and (b) observational studies (i.e., cross-sectional, case-control, case-series). The outcomes included visual outcomes (improvement, no changes, worsening), endocrinological outcomes (permanent diabetes insipidus and hypopituitarism), operatory site infection, meningitis, cerebrospinal fluid leak, stroke, hemorrhage, and mortality. Studies were excluded if they were determined to be: (a) case-report studies, (b) studies testing genetic disorders, (c) poster presentation abstracts without full-text availability, (d) systematic reviews, and (e) metanalyses.

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Paul, Satashree. Autism Spectrum Disorder. Science Repository, febbraio 2021. http://dx.doi.org/10.31487/sr.blog.26.

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Bhaskar Kalarani, Iyshwarya, e Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, ottobre 2022. http://dx.doi.org/10.54985/peeref.2210p6305148.

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Wang, Xinrun, Tianye Li, Xuechai Bai, Yun Zhu e Meiliang Zhang. Therapeutic prospect on umbilical cord mesenchymal stem cells in animal model with primary ovarian insufficiency: A meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, maggio 2023. http://dx.doi.org/10.37766/inplasy2023.5.0075.

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Review question / Objective: Participants: experiment POI animal models; Interventions: human umbilical cord mesenchymal stem cells; Comparisons: POI animal models without hUCMSC therapy; Outcomes: estrous cycle situation, serum sex hormone level and ovarian follicle count; Studies: randomized controlled animal study; The aim of the review is to figure out whether hUCMSC can recover ovarian function in POI animal models. Condition being studied: Primary ovarian insufficiency (POI) is a syndrome characterized by reduced or absent ovarian function (hypogonadism) and elevated levels of gonadotropins, specifically luteinising hormone (LH) and follicle-stimulating hormone (FSH). Etiologies of POI are various. Genetic disorders, autoimmune diseases, iatrogenic injuries like chemotherapy and radiotherapy, and infectious diseases all contribute to the development of POI. Main manifestation of POI includes decreased ovarian function and infertility. Patients may suffer from menopausal symptoms, such as increased cardiovascular disease, decreased bone mineral density, vulvovaginal atrophy, psychological distress and so on. Current treatment of POI is limited. HRT mainly ameliorates symptoms while ART can achieve fertility in some patients but faces many challenges in clinical practice because it's hard to get satisfied oocytes. Stem cell therapy is proved to be efficient in recovering organ functions and hUCMSC is one of the easiest cell to obtain. So we think hUCMSC is promising in treating POI.

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Zhian, Samaneh. Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder. Portland State University Library, gennaio 2000. http://dx.doi.org/10.15760/etd.410.

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Gupta, Shweta. The Disorder That Makes One Age 7 Times Faster. Science Repository OÜ, novembre 2020. http://dx.doi.org/10.31487/sr.blog.13.

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In addition to the implications for the diagnosis and conceivable treatment of progeria, the revelation of this model’s underlying genetics of premature aging may assist in revealing new insight into people s normal aging process

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