Relevant bibliographies by topics / Genetic disorders Pathophysiology

Academic literature on the topic 'Genetic disorders Pathophysiology'

Author: Grafiati
Published: 10 December 2022
Last updated: 29 January 2023

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Journal articles on the topic "Genetic disorders Pathophysiology"

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Gyorfi, Michael, Adam Rupp, and Alaa Abd-Elsayed. "Fibromyalgia Pathophysiology." Biomedicines 10, no. 12 (November 29, 2022): 3070. http://dx.doi.org/10.3390/biomedicines10123070.

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This article examines the biological, genetic, and environmental aspects of fibromyalgia that may have an impact on its pathogenesis. Symptoms of fibromyalgia may be related to aberrations in the endogenous inhibition of pain as well as changes in the central processing of sensory input. Genetic research has revealed familial aggregation of fibromyalgia and other related disorders like major depressive disorder. Dysfunctional pain processing may also be influenced by exposure to physical or psychological stressors, abnormal biologic reactions in the autonomic nervous system, and neuroendocrine responses. With more research the pathophysiology of fibromyalgia will be better understood, leading to more logical and focused treatment options for fibromyalgia patients.
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Charoenngam, Nipith, Aryan Nasr, Arash Shirvani, and Michael F. Holick. "Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management." Genes 13, no. 10 (October 17, 2022): 1880. http://dx.doi.org/10.3390/genes13101880.

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Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.
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Himmerich, Hubertus, Jessica Bentley, Carol Kan, and Janet Treasure. "Genetic risk factors for eating disorders: an update and insights into pathophysiology." Therapeutic Advances in Psychopharmacology 9 (January 2019): 204512531881473. http://dx.doi.org/10.1177/2045125318814734.

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Genome-wide-association studies (GWASs), epigenetic, gene-expression and gene–gene interaction projects, nutritional genomics and investigations of the gut microbiota have increased our knowledge of the pathophysiology of eating disorders (EDs). However, compared with anorexia nervosa, genetic studies in patients with bulimia nervosa and binge-eating disorder are relatively scarce, with the exception of a few formal genetic and small-sized candidate–gene-association studies. In this article, we review important findings derived from formal and molecular genetics in order to outline a genetics-based pathophysiological model of EDs. This model takes into account environmental and nutritional factors, genetic factors related to the microbiome, the metabolic and endocrine system, the immune system, and the brain, in addition to phenotypical traits of EDs. Shortcomings and advantages of genetic research in EDs are discussed against the historical background, but also in light of potential future treatment options for patients with EDs.
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Wandile, Pranali. "Fibromyalgia Management with Homeopathy." Homœopathic Links 30, no. 04 (December 2017): 245–49. http://dx.doi.org/10.1055/s-0037-1608614.

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AbstractFibromyalgia is one of the most common genetically inherited chronic affective spectrum disorders (ASD). Other ASD disorders are psychiatric and medical conditions such as irritable bowel syndrome (IBS), migraine, cataplexy—attention-deficit/hyperactivity disorder, bulimia nervosa, dysthymic disorder, generalised anxiety disorder, major depressive disorder (MDD), obsessive-compulsive disorder, panic disorder, posttraumatic stress disorder, premenstrual dysphoric disorder, rheumatoid arthritis, and social phobia. Apart from genetic factors, neuroendocrine, autonomic nervous system abnormalities, psychosocial variables and environmental stressors contribute in the pathophysiology of fibromyalgia and other associated disorders. In this article, we reviewed etiology, pathophysiology, maintaining and triggering factors, and various treatment options for fibromyalgia. Apart from the pain management, this condition can be managed by ancillary method of treatment. However, due to the genetic cause of the disease, there is very little to offer for its complete cure. Homeopathic miasmatic treatment focuses on the genetic cause of the disease for its complete annihilation while also providing various acute remedies for the temporary pain management. We reviewed homeopathy treatment management and various remedies, which have much to offer for this chronic condition while considering its genetic, triggering and maintaining factors.
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Gavryutina, Irina, Lawrence Fordjour, and Vivian L. Chin. "Genetics of Thyroid Disorders." Endocrines 3, no. 2 (April 13, 2022): 198–213. http://dx.doi.org/10.3390/endocrines3020018.

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Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated or part of a syndrome. Briefly, we will review the physiology and pathophysiology of the thyroid gland and its disorders. The aim of this chapter is to describe genetic abnormalities of the thyroid gland.
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Clerici, Mario, Beatrice Arosio, Emanuela Mundo, Elisabetta Cattaneo, Sara Pozzoli, Bernardo Dell'Osso, Carlo Vergani, Daria Trabattoni, and A. Carlo Altamura. "Cytokine Polymorphisms in the Pathophysiology of Mood Disorders." CNS Spectrums 14, no. 8 (August 2009): 419–25. http://dx.doi.org/10.1017/s1092852900020393.

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ABSTRACTIntroduction: An increasing amount of data suggests that dysregulation of the immune system, including the cytokine network, is associated with the etiology and pathophysiology of mood disorders. Genes encoding cytokines are highly polymorphic and single nucleotide polymorphisms, associated with increased or reduced cytokine production, have been described. The aim of this study was to define the genetic immunologic scenario associated with major depressive disorder (MDD) and bipolar disorder.Methods: Eighty-four Italian outpatients affected by bipolar disorder type I, bipolar disorder type II, or MDD, and 363 healthy controls were enrolled into the study. We analyzed allele and genotype distribution of −308 (G/A) tumor necrosis factor-α (TNF-α), +874 (T/A) interferon-γ (IFN-γ), -174 (G/C) interleukin (IL)-6, and −1082 (G/A) IL-10 promoter polymorphisms by Polymerase Chain Reaction Sequence Specific Primers technique.Results: We observed different genotype and allele distributions of TNF-α, IFN-γ, and IL-10 polymorphisms in the three groups of patients analyzed. In particular, bipolar II patients were characterized by an absence of adenine (A) high producer allele of TNF-α (P<.001) and a lower percentage of TT high producer genotype of IFN-γ (P <.001); bipolar I individuals showed reduced percentage of AA low producer genotype of IL-10 (P<.001). Both bipolar I and bipolar II patients not carrying guanine (G) high producer IL-6 allele showed a lower mean age at onset (P=.048).Conclusion: These data support the existence of a genetic profile related to pro-inflammatory cytokines in patients affected by mood disorders. The differences observed across the three clinical phenotypes suggest the presence of different pathogenetic mechanisms involved in the susceptibility of phenotypically different mood disorders.
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Miller, Assia, Serina Mathew, Sneha Patel, Lawrence Fordjour, and Vivian L. Chin. "Genetic Disorders of Calcium and Phosphorus Metabolism." Endocrines 3, no. 1 (March 17, 2022): 150–67. http://dx.doi.org/10.3390/endocrines3010014.

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In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). We describe the physiology and pathophysiology of disorders, their biochemical profile, clinical characteristics, diagnostics, and treatments.
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Keir, Holly R., and James D. Chalmers. "Pathophysiology of Bronchiectasis." Seminars in Respiratory and Critical Care Medicine 42, no. 04 (July 14, 2021): 499–512. http://dx.doi.org/10.1055/s-0041-1730891.

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AbstractBronchiectasis is a complex, heterogeneous disorder defined by both a radiological abnormality of permanent bronchial dilatation and a clinical syndrome. There are multiple underlying causes including severe infections, mycobacterial disease, autoimmune conditions, hypersensitivity disorders, and genetic conditions. The pathophysiology of disease is understood in terms of interdependent concepts of chronic infection, inflammation, impaired mucociliary clearance, and structural lung damage. Neutrophilic inflammation is characteristic of the disease, with elevated levels of harmful proteases such as neutrophil elastase associated with worse outcomes. Recent data show that neutrophil extracellular trap formation may be the key mechanism leading to protease release and severe bronchiectasis. Despite the dominant of neutrophilic disease, eosinophilic subtypes are recognized and may require specific treatments. Neutrophilic inflammation is associated with elevated bacterial loads and chronic infection with organisms such as Pseudomonas aeruginosa. Loss of diversity of the normal lung microbiota and dominance of proteobacteria such as Pseudomonas and Haemophilus are features of severe bronchiectasis and link to poor outcomes. Ciliary dysfunction is also a key feature, exemplified by the rare genetic syndrome of primary ciliary dyskinesia. Mucus symptoms arise through goblet cell hyperplasia and metaplasia and reduced ciliary function through dyskinesia and loss of ciliated cells. The contribution of chronic inflammation, infection, and mucus obstruction leads to progressive structural lung damage. The heterogeneity of the disease is the most challenging aspect of management. An understanding of the pathophysiology of disease and their biomarkers can help to guide personalized medicine approaches utilizing the concept of “treatable traits.”
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Musambil, Mohthash, Khalid Al-Rubeaan, Sara Al-Qasim, Dhekra Al Naqeb, and Abdulrahman Al-Soghayer. "Primary Hypertriglyceridemia: A Look Back on the Clinical Classification and Genetics of the Disease." Current Diabetes Reviews 16, no. 6 (June 14, 2020): 521–31. http://dx.doi.org/10.2174/1573399815666190502164131.

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Introduction: Hypertriglyceridemia (HTG) is one of the most common metabolic disorders leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired metabolism of triglyceride-rich lipoproteins. Although monogenic types of HTG exist, most reported cases are polygenic in nature. Aim: This review article is focused on the classification of Primary HTG and the genetic factors behind its development with the aim of providing clinicians a useful tool for early detection of the disease in order to administer proper and effective treatment. Discussion: HTG is often characterized by a complex phenotype resulting from interactions between genetic and environmental factors. In many instances, the complexity, perplexing causes, and classification of HTG make it difficult for clinicians to properly diagnose and manage the disorder. Better availability of information on its pathophysiology, genetic factors involved, environmental causes, and their interactions could help in understanding such complex disorders and could support its effective diagnosis and treatment. Conclusion: The current review has summarized the case definition, epidemiology, pathophysiology, clinical presentation, classification, associated genetic factors, and scope of genetic screening in the diagnosis of primary HTG.
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Yadav, Monu, Ishu Sardana, Amarjeet Sharma, Nidhi Sharma, Kalpana Nagpal, and Paramjeet Malik. "Emerging Pathophysiological Targets of Psoriasis for Future Therapeutic Strategies." Infectious Disorders - Drug Targets 20, no. 4 (October 16, 2020): 409–22. http://dx.doi.org/10.2174/1871526519666190617162701.

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Psoriasis is a chronic autoimmune skin disorder which involves complex interactions between genes, keratinocytes, T-cells and inflammatory cells. It affects 2-3% population worldwide. Molecular biology and cellular immunology of psoriasis, when linked with biotechnology and genetic studies can help researchers to understand the pathophysiology of psoriasis. T-cells activation, keratinocyte hyperproliferation, and angiogenesis are the core mechanisms entailed in the development of psoriasis lesion. Investigators are trying to overcome the challenges of complex pathophysiology pathways involved in this disorder. The different possible hypotheses for its pathophysiology such as growth factors, enzymes, inflammation, and genetic factors mediated pathophysiology have been described in the present review paper in detail. Clinically available drugs only control the symptoms of psoriasis but are not effective for the treatment of the disorder completely and are also associated with some side effects such as itching, renal disorders, hematologic, nonmelanoma skin cancer, pulmonary, gastrointestinal toxicity, etc. This paper made an effort to understand the pathophysiological targets, discuss the research done so far and the treatments available for the effective management of psoriasis.
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Dissertations / Theses on the topic "Genetic disorders Pathophysiology"

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Honing, Candice. "Identification of ligands interacting with the Wolframin protein (WFS1), a candidate in the pathophysiology of posttraumatic stress disorder (PTSD)." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/20363.

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Thesis (MScMedSc)--Stellenbosch University, 2012.
ENGLISH ABSTRACT: Posttraumatic stress disorder (PTSD) is a multifactorial disorder, with substantial evidence for a genetic contribution. Although genetic association studies have been conducted to identify vulnerability factors in PTSD, the results remain largely inconsistent. Identifying ligands of proteins that are involved in the aetiology of PTSD represents a means of delineating the network of interactions that may play a role in the development of the disorder. Numerous animal studies have identified the Wolframin protein (WFS1) as a putative biomarker for the development of PTSD. However, the function of WFS1 has not yet been fully elucidated. The aim of the present investigation was to identify proteins that interact with the N-terminal domain of WFS1, in order to possibly elucidate the function of the protein, and to subsequently hypothesise on the role that WFS1 may play in the development of PTSD. Yeast two-hybrid (Y2H) methodology was used to identify putative ligands of the N-terminal domain of WFS1 (amino acids 1-300) by screening a human adult brain complementary DNA (cDNA) library. Successive selection stages reduced the number of putative WFS1 N-terminal ligand-containing colonies (preys) from 878 to three. Putative ligands were sequenced and indentified by BLAST-search. Four preys were excluded because they were either out of frame with the vector or the protein they encoded occurred in a subcellular location that was not compatible with the location of the N-terminal domain of WFS1. An interesting putative ligand was identified as carboxypeptidase E (CPE). Colocalisation analyses verified that CPE colocalises with WFS1 in rat hypothalamic GT1-7 cells. Coimmunoprecipitation (Co-IP) further verified a direct interaction between WFS1 and CPE in rat hypothalamic GT1-7 cells, providing conclusive evidence that WFS1 and CPE interact. Both WFS1 and CPE are upregulated in response to fear and both are localised to the secretory granules of the regulated secretory pathway. WFS1 has been detected in both the ER and secretory granules it seems to play an important role in protein biosynthesis, modification, folding, trafficking and the regulation of calcium homeostasis. CPE is involved in neuropeptide processing and trafficking of secreted proteins. The interaction between CPE and WFS1 may thus serve to facilitate an optimal environment in which neuropeptides can be processed and secreted.
AFRIKAANSE OPSOMMING: Posttraumatiese stresversteuring (PTSV) is 'n multifaktoriese siekte, met aansienlike bewyse vir 'n genetiese bydrae. Hoewel genetiese assosiasie-studies uitgevoer word om kwesbaarheidsfaktore in PTSV te identifiseer, is die resultate grootliks teenstrydig. Identifiseering van ligande van proteїene wat betrokke is in die etiologie van PTSV dien as middel om die netwerk van interaksies wat ń moontlike rol in die ontwikkeling van die versteuring kan speel, te oudersoek talle diere studies het die Wolframin proteien (WFS1) geїdentifiseer as 'n moontlike biomerker vir die ontwikkeling van PTSV. Die funksie van WFS1 is egter nog nie ten volle beskryf nie. Die doel van die huidige studie was om proteїene wat interaksie met die N-terminale domein van WFS1 her te identifiseer, om sodoende die funksie van die proteїen uit te lig, en daardeur die rol wat WFS1 kan speel in die ontwikkeling van PTSV te bepaal. Die gis twee-hibried metodologie is gebruik om moontlike ligande van die N-terminale domein van WFS1 te identifiseer, deur die sifting van 'n mens volwasse brein komplementêre DNS biblioteek. Opeenvolgende seleksie stappe het die aantal moontlike WFS1 N-terminale ligand wat moontlike prooi kolonies bevat van 878 tot en met ses verminder. Die DNS volgorde van die moontlike prooi-plasmiede is bepaal en geїdentifiseer deur die BLAST soek-engin. Vier prooi-plasmiede is uitgesluit omdat hulle of nie in die korrekte lees-raam in die vektor was nie of die subsellulêre ligging van die proteїen wat uitgedrukword is nie versoenbaar met die N-terminale domein van WFS1. 'n Interessante moontlike ligand is geїdentifiseer as Karboxypeptidase E (CPE). Ko-lokalisering ontleding bevestig dat CPE ko-lokaliseer met WFS1 in rot hipotalamiese selle (GT1-7). Ko-immunopresipitasie (Ko-IP) toon verder 'n direkte interaksie tussen WFS1 and CPE in rot GT1-7 selle. Wat dus bewys dat WFS1 en CPE wel met mekaar 'n interaksie het. Beide WFS1 en CPE toon 'n verhoogde uitdrukking in respons tot ń vrees-situasie. Beide van hierdie proteїene kom voor in die sekretoriese korrels van die gereguleerde sekretoriese pad. Die WFS1 proteien word bevind in die endoplasmiese retikulum (ER) van die sel, waar dit verantwoordelik is vir proteien biosintese, modifikasie, vouing, vervoer en die reguleering van kalsium homeostase. Die CPE proteїen is verantwoordelik vir die proseseering van neuropeptiede en die vervoer van uitgeskiede proteїene. Dus kan die interaksie tussen CPE en WFS1 dien om 'n optimale omgewing te skep waarin neuropeptiede geproseseer en uitgeskei kan word.
The National Research Foundation (NRF), the Harry Crossley Foundation and the Medical Research Council (MRC)
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Chen, Yuanyuan. "Epigenetic alteration by prenatal alcohol exposure in developing mouse hippocampus and cortex." Thesis, 2014. http://hdl.handle.net/1805/5810.

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Indiana University-Purdue University Indianapolis (IUPUI)
Fetal alcohol spectrum disorders (FASD) is the leading neurodevelopment deficit in children born to women who drink alcohol during pregnancy. The hippocampus and cortex are among brain regions vulnerable to alcohol-induced neurotoxicity, and are key regions underlying the cognitive impairment, learning and memory deficits shown in FASD individuals. Hippocampal and cortical neuronal differentiation and maturation are highly influenced by both intrinsic transcriptional signaling and extracellular cues. Epigenetic mechanisms, primarily DNA methylation and histone modifications, are hypothesized to be involved in regulating key neural development events, and are subject to alcohol exposure. Alcohol is shown to modify DNA methylation and histone modifications through altering methyl donor metabolisms. Recent studies in our laboratory have shown that alcohol disrupted genome-wide DNA methylation and delayed early embryonic development. However, how alcohol affects DNA methylation in fetal hippocampal and cortical development remains elusive, therefore, will be the theme of this study. We reported that, in a dietary alcohol-intake model of FASD, prenatal alcohol exposure retarded the development of fetal hippocampus and cortex, accompanied by a delayed cellular DNA methylation program. We identified a programed 5-methylcytosine (5mC) and 5-hydroxylmethylcytosine (5hmC) cellular and chromatic re-organization that was associated with neuronal differentiation and maturation spatiotemporally, and this process was hindered by prenatal alcohol exposure. Furthermore, we showed that alcohol disrupted locus-specific DNA methylation on neural specification genes and reduced neurogenic properties of neural stem cells, which might contribute to the aberration in neurogenesis of FASD individuals. The work of this dissertation suggested an important role of DNA methylation in neural development and elucidated a potential epigenetic mechanism in the alcohol teratogenesis.
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Gupta, Manav. "Differentiation and characterization of cell types associated with retinal degenerative diseases using human induced pluripotent stem cells." Thesis, 2014. http://hdl.handle.net/1805/4839.

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Indiana University-Purdue University Indianapolis (IUPUI)
Human induced pluripotent stem (iPS) cells have the unique ability to differentiate into 200 or so somatic cell types that make up the adult human being. The use of human iPS cells to study development and disease is a highly exciting and interdependent field that holds great promise in understanding and elucidating mechanisms behind cellular differentiation with future applications in drug screening and cell replacement studies for complex and currently incurable cellular degenerative disorders. The recent advent of iPS cell technology allows for the generation of patient-specific cell lines that enable us to model the progression of a disease phenotype in a human in vitro model. Differentiation of iPS cells toward the affected cell type provides an unlimited source of diseased cells for examination, and to further study the developmental progression of the disease in vitro, also called the “disease-in-a-dish” model. In this study, efforts were undertaken to recapitulate the differentiation of distinct retinal cell affected in two highly prevalent retinal diseases, Usher syndrome and glaucoma. Using a line of Type III Usher Syndrome patient derived iPS cells efforts were undertaken to develop such an approach as an effective in vitro model for studies of Usher Syndrome, the most commonly inherited disorder affecting both vision and hearing. Using existing lines of iPS cells, studies were also aimed at differentiation and characterization of the more complex retinal cell types, retinal ganglion cells (RGCs) and astrocytes, the cell types affected in glaucoma, a severe neurodegenerative disease of the retina leading to eventual irreversible blindness. Using a previously described protocol, the iPS cells were directed to differentiate toward a retinal fate through a step-wise process that proceeds through all of the major stages of neuroretinal development. The differentiation process was monitored for a period of 70 days for the differentiation of retinal cell types and 150 days for astrocyte development. The different stages of differentiation and the individually derived somatic cell types were characterized by the expression of developmentally associated transcription factors specific to each cell type. Further approaches were undertaken to characterize the morphological differences between RGCs and other neuroretinal cell types derived in the process. The results of this study successfully demonstrated that Usher syndrome patient derived iPS cells differentiated to the affected photoreceptors of Usher syndrome along with other mature retinal cell types, chronologically analogous to the development of the cell types in a mature human retina. This study also established a robust method for the in vitro derivation of RGCs and astrocytes from human iPS cells and provided novel methodologies and evidence to characterize these individual somatic cell types. Overall, this study provides a unique insight into the application of human pluripotent stem cell biology by establishing a novel platform for future studies of in vitro disease modeling of the retinal degenerative diseases: Usher syndrome and glaucoma. In downstream applications of this study, the disease relevant cell types derived from human iPS cells can be used as tools to further study disease progression, drug screening and cell replacement strategies.
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Kuo, Hsiao-Ying, and 郭曉縈. "Genetic and Environmental-Risk Factor Mouse Model Studies for a Role of the Striatum in the Pathophysiology of Autism Spectrum Disorder." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/3t2n4b.

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Books on the topic "Genetic disorders Pathophysiology"

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Ahuja, Satpal. Usher syndrome: Pathogenesis, diagnosis, and therapy. Hauppauge, N.Y: Nova Science Publishers, 2011.

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Nicola, Cirillo. Techniques in epidermal biology: An integrated approach to autoimmune skin disease. Hauppauge, N.Y: Nova Science Publishers, 2011.

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Transcription factors and human disease. New York: Oxford University Press, 1998.

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Simmons Center International Conference on HLA-B27 Related Disorders (2nd 1991 Dallas, Tex.). HLA-B27⁺ Spondyloarthropathies: Proceedings of the second Simmons Center International Conference on HLA-B27 Related Disorders held April 10-14, 1991 in Dallas, Texas. Edited by Lipsky Peter E and Taurog Joel D. New York: Elsevier, 1991.

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Magne, Ueland Per, and Rozen Rima, eds. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience/ Eurekah.com, 2005.

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Cohen, Sidney. The chemical brain: The neurochemistry of addictive disorders. Irvine, Calif: CareInstitute, 1988.

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Fuchs, Jürgen, 1957 June 28-, Podda Maurizio 1965-, and Packer Lester, eds. Redox-genome interactions in health and disease. New York: M. Dekker, 2004.

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Steven, Whitney, ed. The addiction solution: Unraveling the mysteries of addiction through cutting-edge brain science. New York: Rodale, 2010.

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Lovelace, Robert E. Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics and therapy. Chichester: Wiley, 1990.

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International Conference on Charcot-Marie-Tooth Disease (2nd 1987 Harriman, N.Y.). Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics, and therapy. Edited by Lovelace Robert E and Shapiro Howard K. New York: Liss, 1990.

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Book chapters on the topic "Genetic disorders Pathophysiology"

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Barton, James C., Pauline L. Lee, and Corwin Q. Edwards. "Genetic Testing for Disorders of Iron Homeostasis." In Iron Physiology and Pathophysiology in Humans, 529–65. Totowa, NJ: Humana Press, 2011. http://dx.doi.org/10.1007/978-1-60327-485-2_26.

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Gunduz, Mehmet, Eyyup Uctepe, and Esra Gunduz. "Genetic Background of the Rhinologic Diseases." In Nasal Physiology and Pathophysiology of Nasal Disorders, 439–67. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-37250-6_32.

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Passos-Bueno, Maria Rita, Karina Griesi-Oliveira, Andrea Laurato Sertié, and Gerson Shigeru Kobayashi. "Stem Cells to Understand the Pathophysiology of Autism Spectrum Disorders." In Stem Cells in Modeling Human Genetic Diseases, 121–42. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-18314-5_8.

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Chauhan, Ved, and Abha Chauhan. "Contribution of Oxidative Stress to the Pathophysiology of Autism Spectrum Disorders: Impact of Genetic and Environmental Factors." In Oxidative Stress in Applied Basic Research and Clinical Practice, 89–120. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0440-2_4.

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Molven, Anders, Geir Helgeland, Tone Sandal, and Pål R. Njølstad. "The Molecular Genetics and Pathophysiology of Congenital Hyperinsulinism Caused by Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency." In Monogenic Hyperinsulinemic Hypoglycemia Disorders, 137–45. Basel: KARGER, 2012. http://dx.doi.org/10.1159/000334519.

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Gutensohn, W. "The Biochemical Basis and Pathophysiology of ADA and PNP Deficiencies." In Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism, 92–103. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-84962-6_14.

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Funder, John W. "The History, Biology, and Pathophysiology of Apparent Mineralocorticoid Excess." In Genetic Steroid Disorders, 247–49. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-416006-4.00018-1.

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Benz, Fee, Elisabeth Hertenstein, Anna Johann, and Dieter Riemann. "Insomnia Disorder—Pathophysiology." In Management of Sleep Disorders in Psychiatry, edited by Amit Chopra, Piyush Das, and Karl Doghramji, 89–102. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780190929671.003.0008.

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Insomnia disorder is defined as persistent difficulty with initiating or maintaining sleep, or early morning awakening accompanied by daytime impairment. Although insomnia disorder is a highly prevalent disorder and a major public health burden, the pathophysiology of the disorder is still not fully understood. Neurobiological as well as psychological models have been suggested highlighting genetic, behavioral, cognitive, emotional, and neurobiological factors. While psychological perspectives emphasize the role of dysfunctional sleep-related cognitions and a selective attention toward sleep-related stimuli, neurobiological perspectives particularly look at physiological alterations such as brain circuits that may be involved in the pathophysiology of insomnia. Relevant models explaining how insomnia develops and how it becomes chronic are described, and the evidence is summarized. Thus, this chapter provides an overview of important etiological models and further approaches dealing with the pathophysiology of insomnia disorder.
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Talreja, Neetu, and Ronald Dahl. "Genetic Disorders and Asthma." In Asthma, 115–38. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199918065.003.0010.

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Primary ciliary dyskinesia, cystic fibrosis, and α‎1-antitrypsin deficiency are autosomal recessive hereditary diseases. These diseases should always be considered in cases of asthma. The diagnosis and management of these diseases, particularly with asthma, is an important challenge for clinicians. However, the diagnosis of these chronic diseases is evolving with better definition of phenotypic features and expansion of diagnostic tests. Optimizing and expanding access to the nongenetic tests is critical for ensuring a timely and accurate diagnosis. Early diagnostic strategies, better understanding of the complex interactions underlying the pathophysiology of lung disease, and emerging treatments show great promise for the future. The discovery of genetic and biomarker studies that will predict individuals at risk to develop the clinical manifestations of these diseases can lead to more personalized treatment strategies and a better prognosis.
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S. Khan, Mosin, Suhail S. Lone, Sunia Faiz, Iqra Farooq, and Sabhiya Majid. "Graves’ Disease: Pathophysiology, Genetics and Management." In Graves' Disease [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.98238.

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Graves’ disease is an autoimmune disorder in which hyperthyroidism (over active thyroid) is caused by the autoantibodies against the TSH receptor. It is mainly characterized by the appearance of goiter. The symptoms are wide ranging as thyroid hormone affects many body systems. It is common in women and in people with age below than 40. Graves’ disease is caused by a combination of genetic and environmental factors while genetics being the main cause. Graves’ disease is not a single gene defect but has a complex pattern of inheritance. Today it is clear that genetic predisposition to Graves’ disease is caused by multiple genes. HLA gene is one the most studied gene predisposing to Graves’ disease. Lot of polymorphisms in this gene has been to be associated with the disease. Lymphoid tyrosine phosphatase encoded by the gene PTPN22 has been found to increase the risk of many autoimmune diseases including Graves’ disease. The best documented association of PTPN22 variants to autoimmune disorders including GD is rs2476601 (C1858T). Other genes associated with the risk of GD are thyrotropin receptor (TSHR), thyroglobulin gene, FCRL3, SCGB3A2, and CTLA4. This chapter will discuss in detail the genetics, pathophysiology, diagnosis and treatment of Graves’ hyperthyroidism.
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Conference papers on the topic "Genetic disorders Pathophysiology"

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Albuquerque, Pedro José Honório de, Laura Guerra Lopes, Jordy Silva de Carvalho, Luzilene Pereira de Lima, and Marina Galdino da Rocha Pitta. "Emerging therapies for amyotrophic lateral sclerosis applied to drug discovery." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.021.

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Background: Amyotrophic Lateral Sclerosis (ALS) is a progressive neuromuscular disease mainly caused by genetic disorders. This progressive disorder involves the degeneration of motor neurons at various levels. Drugs have been studied, and they show improvement in survival and reduced progression of the disease, they are riluzole and edaravone. Objectives: Investigate emerging therapies for the treatment of ALS. Methods: The Pubmed database was used to conduct the research, and the keywords were “Amyotrophic Lateral Sclerosis”, “Emerging”, “Therapies”,”Drugs”, all present in Mesh. Articles from 2016 to 2021 were used. And the survey was conducted on May 2, 2021. Results: Only two drugs have been approved yet by the Food and Drug Administration for the treatment of ALS, riluzole and edaravone, and each one offers modest benefits in mortality and/or function. On the other hand, 88 studies of clinical intervention trials are active using different drugs. Current therapies under development include oral tyrosine kinase inhibitors (masitinib, trametinib); the antisense oligonucleotide (tofersen); the human monoclonal antibody inhibitor (ravulizumab); and mesenchymal stem cells (MSC); among others (RT001, Enoxacin, Engensis, ANX005, Deferiprone). Conclusions: Due to gaps in the knowledge of the specific pathophysiology of ALS, the definitive treatment is still a mystery. The drugs currently in use, riluzole and edaravone, are the most promising in terms of delaying the progression of the disease.
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