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Статті в журналах з теми "Genetic disorders Pathophysiology"
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.
Повний текст джерелаCharoenngam, 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.
Повний текст джерелаHimmerich, 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.
Повний текст джерелаWandile, Pranali. "Fibromyalgia Management with Homeopathy." Homœopathic Links 30, no. 04 (December 2017): 245–49. http://dx.doi.org/10.1055/s-0037-1608614.
Повний текст джерелаGavryutina, 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.
Повний текст джерелаClerici, 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.
Повний текст джерелаMiller, 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.
Повний текст джерелаKeir, 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.
Повний текст джерелаMusambil, 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.
Повний текст джерелаYadav, 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.
Повний текст джерелаДисертації з теми "Genetic disorders Pathophysiology"
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.
Повний текст джерелаENGLISH 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)
Chen, Yuanyuan. "Epigenetic alteration by prenatal alcohol exposure in developing mouse hippocampus and cortex." Thesis, 2014. http://hdl.handle.net/1805/5810.
Повний текст джерелаFetal 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.
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.
Повний текст джерелаHuman 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.
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.
Повний текст джерелаКниги з теми "Genetic disorders Pathophysiology"
Ahuja, Satpal. Usher syndrome: Pathogenesis, diagnosis, and therapy. Hauppauge, N.Y: Nova Science Publishers, 2011.
Знайти повний текст джерелаNicola, Cirillo. Techniques in epidermal biology: An integrated approach to autoimmune skin disease. Hauppauge, N.Y: Nova Science Publishers, 2011.
Знайти повний текст джерелаTranscription factors and human disease. New York: Oxford University Press, 1998.
Знайти повний текст джерелаSimmons 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.
Знайти повний текст джерелаMagne, Ueland Per, and Rozen Rima, eds. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience/ Eurekah.com, 2005.
Знайти повний текст джерелаCohen, Sidney. The chemical brain: The neurochemistry of addictive disorders. Irvine, Calif: CareInstitute, 1988.
Знайти повний текст джерелаFuchs, Jürgen, 1957 June 28-, Podda Maurizio 1965-, and Packer Lester, eds. Redox-genome interactions in health and disease. New York: M. Dekker, 2004.
Знайти повний текст джерелаSteven, Whitney, ed. The addiction solution: Unraveling the mysteries of addiction through cutting-edge brain science. New York: Rodale, 2010.
Знайти повний текст джерелаLovelace, Robert E. Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics and therapy. Chichester: Wiley, 1990.
Знайти повний текст джерелаInternational 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.
Знайти повний текст джерелаЧастини книг з теми "Genetic disorders Pathophysiology"
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.
Повний текст джерелаGunduz, 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.
Повний текст джерелаPassos-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.
Повний текст джерелаChauhan, 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.
Повний текст джерелаMolven, 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.
Повний текст джерелаGutensohn, 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.
Повний текст джерелаFunder, 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.
Повний текст джерелаBenz, 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.
Повний текст джерелаTalreja, 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.
Повний текст джерелаS. 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.
Повний текст джерелаТези доповідей конференцій з теми "Genetic disorders Pathophysiology"
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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