Добірка наукової літератури з теми "Aspetti monogenici"
Оформте джерело за APA, MLA, Chicago, Harvard та іншими стилями
Ознайомтеся зі списками актуальних статей, книг, дисертацій, тез та інших наукових джерел на тему "Aspetti monogenici".
Біля кожної праці в переліку літератури доступна кнопка «Додати до бібліографії». Скористайтеся нею – і ми автоматично оформимо бібліографічне посилання на обрану працю в потрібному вам стилі цитування: APA, MLA, «Гарвард», «Чикаго», «Ванкувер» тощо.
Також ви можете завантажити повний текст наукової публікації у форматі «.pdf» та прочитати онлайн анотацію до роботи, якщо відповідні параметри наявні в метаданих.
Статті в журналах з теми "Aspetti monogenici"
De Rycke, M. "C2 PGD for monogenic diseases: Molecular aspects." Reproductive BioMedicine Online 20 (May 2010): S1. http://dx.doi.org/10.1016/s1472-6483(10)62256-0.
Повний текст джерелаSpits, Claudia, and Karen Sermon. "PGD for monogenic disorders: aspects of molecular biology." Prenatal Diagnosis 29, no. 1 (December 19, 2008): 50–56. http://dx.doi.org/10.1002/pd.2161.
Повний текст джерелаMurphy, Rinki. "Monogenic diabetes and pregnancy." Obstetric Medicine 8, no. 3 (June 29, 2015): 114–20. http://dx.doi.org/10.1177/1753495x15590713.
Повний текст джерелаPeterkova, V. A., T. L. Kuraeva, S. A. Prokof’ev, A. O. Emel'yanov, E. Yu Zakharova, P. G. Tsygankova, and D. P. Grishina. "MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS." Annals of the Russian academy of medical sciences 67, no. 1 (January 22, 2012): 81–86. http://dx.doi.org/10.15690/vramn.v67i1.115.
Повний текст джерелаLachance, Carl-Hugo. "Practical Aspects of Monogenic Diabetes: A Clinical Point of View." Canadian Journal of Diabetes 40, no. 5 (October 2016): 368–75. http://dx.doi.org/10.1016/j.jcjd.2015.11.004.
Повний текст джерелаMorais, J., H. T. Le та W. Sprößig. "On some constructive aspects of monogenic function theory in ℝ4". Mathematical Methods in the Applied Sciences 34, № 14 (8 серпня 2011): 1694–706. http://dx.doi.org/10.1002/mma.1474.
Повний текст джерелаBallabio, E., A. Bersano, N. Bresolin, and L. Candelise. "Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach." Journal of Cerebral Blood Flow & Metabolism 27, no. 10 (June 20, 2007): 1649–62. http://dx.doi.org/10.1038/sj.jcbfm.9600520.
Повний текст джерелаKuchinskaya, E. M., E. N. Suspitsyn, and M. M. Kostik. "Genetic aspects of the pathogenesis of systemic lupus erythematosus in children." Modern Rheumatology Journal 14, no. 1 (March 22, 2020): 101–7. http://dx.doi.org/10.14412/1996-7012-2020-1-101-107.
Повний текст джерелаTesser, Alessandra, Alessia Pin, Elisabetta Mencaroni, Virginia Gulino, and Alberto Tommasini. "Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain." International Journal of Environmental Research and Public Health 18, no. 11 (May 24, 2021): 5585. http://dx.doi.org/10.3390/ijerph18115585.
Повний текст джерелаOrlando, Francesca, Germana Nardini, and Daniele De Brasi. "Le malattie autoinfiammatorie: aspetti patogenetici e clinici (Prima parte)." QUADERNI ACP 29, no. 3 (2022): 128. http://dx.doi.org/10.53141/qacp.2022.128-132.
Повний текст джерелаДисертації з теми "Aspetti monogenici"
Girardelli, Martina, and Martina Girardelli. "Ricerca di nuove varianti geniche associate alle malattie infiammatorie croniche intestinali." Doctoral thesis, Università degli studi di Trieste, 2015. http://hdl.handle.net/10077/10849.
Повний текст джерела2013/2014
Le malattie infiammatorie croniche intestinali (MICI), sono un gruppo di malattie eterogenee ad eziologia multifattoriale. Sono caratterizzate da uno stato infiammatorio a carico della mucosa del tratto gastrointestinale e comprendono il Morbo di Crohn (MC), la Rettocolite ulcerosa (RCU) e la Colite indeterminata (CI) i cui quadri istopatologici differiscono tra loro per tipo di lesione, localizzazione della malattia e complicanze associate. Le MICI insorgono tipicamente durante l’adolescenza o in età adulta come il risultato della combinazione di tutti i fattori predisponenti che concorrono in egual misura nella determinazione della malattia. L’insorgenza delle MICI può avvenire anche in età molto precoce, entro i 10 anni ma anche entro i 2 anni e in maniera ancora più grave. In questi casi di esordio precoce si ipotizza che il peso maggiore sia da attribuire alla componente genetica piuttosto che a fattori ambientali e microbici. Solitamente i pazienti con esordio precoce sono caratterizzati da un fenotipo malattia più severo e difficilmente controllabile con le terapie convenzionali. Per gli aspetti differenti che si osservano in termini di predisposizione, caratteristiche fenotipiche, fattori coinvolgenti e geni interessati, le MICI possono essere contestualizzate da una parte come malattie multifattoriali e dall’altra come patologie “monogeniche". Nel contesto della multifattorialità, i numerosi studi di associazione son stati importantissimi in quanto hanno individuato numerosi geni relativi a distinte pathway (barriera intestinale, regolazione dell’immunità innata dell’epitelio, autofagia, sistema fagocitario e stress) coinvolte nella patogenesi delle MICI (ad oggi 163 loci). Nel lavoro di dottorato l’attenzione e l’interesse si è focalizzato sullo studio delle MICI ad insorgenza precoce e uno dei primi obiettivi della tesi è stato quello di indagare in 36 pazienti pediatrici, geni noti dalla letteratura per essere associati alla malattia (NOD2, ATG16L1, IL23R, IL10, IL10RA, IL10RB e XIAP), con il fine di identificare una possibile correlazione genotipo-fenotipo. Anche se non è stato possibile identificare un unico filo conduttore che ci ha permesso di correlare il fenotipo dei pazienti ai genotipi individuati, sono state identificate nuove varianti missenso e introniche. Tutte le varianti individuate sono state analizzate da un punto di vista bioinformatico per valutare la predizione di patogenicità: in base alle predizioni ottenute l’attenzione si è focalizzata su due varianti nel gene NOD2 sulle quali sono stati allestiti saggi funzionali per valutare il loro impatto sulla corretta sintesi e funzionamento della proteina. Un importante dato che emerge sempre più spesso dalla letteratura è l’evidenza che lesioni infiammatorie a carico del tratto gastrointestinale e il fenotipo tipico delle MICI, possono presentarsi molto precocemente (entro i 2 anni di vita) come prime o a volte anche come uniche manifestazioni cliniche in un contesto patologico più ampio che sottende allo sviluppo di gravi immunodeficienze (MICI-like). In questi casi le mutazioni a carico del gene malattia sono molto rare e generalmente considerate come mutazioni “private” e causative del fenotipo malattia che si osserva. Nell’ambito delle MICI in un contesto che possiamo definire monogenico, sono stati analizzati pazienti pediatrici con una sintomatologia MICI-like mediante analisi di sequenza di nuova generazione “Whole Exome Sequencing (WES)”. Sono state ricercate specificamente mutazioni in un determinato set di geni accuratamente selezionati (60 geni) in quanto responsabili di patologie monogeniche che presentano, all’esordio della malattia, una sintomatologia MICI-like. L’obiettivo è quello di riuscire ad effettuare in tempi rapidi l’identificazione di mutazioni in specifici geni malattia, per permettere al clinico di diagnosticare altrettanto rapidamente la malattia e poter intraprendere la terapia più adeguata e specifica per ciascun paziente. Così come sono state individuate numerose varianti presenti nei database e note per la loro associazione alle MICI, sono state identificate anche nuove varianti, mai descritte prima in letteratura. Alcune varianti sono state analizzate con saggi funzionali in vitro in modo da poter comprendere il rispettivo effetto sulla proteina. Per testare l’effetto della variante intronica rs104895421 (c.74-7T>A), situata a monte dell’esone 2 del gene NOD2, è stato allestito il saggio del minigene ibrido. L’esperimento ha messo in evidenza che tale sostituzione nucleotidica altera il corretto funzionamento del meccanismo di splicing, provocando, anche se non con una efficienza del 100% l’esclusione dell’esone. Nel contesto di MICI come malattie monogeniche, sono state individuate due importanti mutazioni, in due pazienti con sintomatologia MICI-like ad esordio molto precoce. La prima è una mutazione, ovvero una delezione di due nucleotidi, identificata nel gene XIAP (c.1021_1022delAA fs p.N341fsX7). Questa delezione determina la sintesi di una proteina tronca provocando un’alterazione strutturale della proteina che ne la funzionalità. Il risultato di tale lavoro ha permesso al clinico di fare finalmente la corretta diagnosi e il paziente è stato curato grazie ad un trapianto di midollo. La seconda mutazione degna di interesse è una mutazione missenso identificata in omozigozi nel gene NOD2 (c.G1277A p.R426H), in seguito all’analisi dell’esoma. Dalle indagini funzionali si evince che tale mutazione altera il normale funzionamento del recettore intracellulare NOD2, e quindi potrebbe spiegare il fenotipo malattia osservato nel giovane paziente (“gain of function”). In questo caso, il confronto con il clinico, in base alle evidenze ottenute dai test eseguiti, deve ancora avere luogo ma sarà di fondamentale importanza per fare una diagnosi e iniziare la terapia idonea. Questa tesi ha incrementato, seppur con piccoli tasselli, le conoscenze riguardo alcuni varianti in geni conosciuti dalla letteratura per la loro associazione con le MICI. I risultati ottenuti hanno avuto inoltre un impatto traslazionale molto importante permettendo ai clinici di fare la corretta diagnosi e iniziare la terapia idonea per migliorare la qualità e l’aspettativa di vita del paziente.
XXVII Ciclo
XXVII Ciclo
1985
Choquet, Hélène. "Contribution du gène PCSK1 aux formes monogéniques et polygéniques d’obésité." Thesis, Lille 2, 2010. http://www.theses.fr/2010LIL2S012/document.
Повний текст джерелаFour whole genome studies basing on positional cloning approach revealed a region ofchromosome 5q linked to traits related to obesity, this region contained the gene coding forthe prohormone convertase 1 named PCSK1. Pc1 mutation in mice has been associated withobesity, hyperphagia and increased metabolic efficiency. In human, PCSK1 deficiency is amonogenic form of obesity. The first case of complete PCSK1 deficiency has been identifiedin 1997 and since two other cases were discovered. Deleterious PCSK1 mutations carrierswere either homozygous or compound heterozygous and presented severe phenotypes, such asobesity, intestinal troubles and endocrine disorders. Surprisingly, the family members whowere heterozygous for these mutations appeared clinically unaffected. Overall of these studieshighlighted PCSK1 as a candidate gene for obesity.We have therefore decided to assess the contribution of PCSK1 gene to polygenicobesity risk. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tagsingle nucleotide polymorphisms in a total of 13,659 European individuals from eightindependent case-control or family-based cohorts. The non-synonymous variants rs6232,encoding N221D, and cluster rs6234-rs6235, encoding the Q665E-S690T pair, wereconsistently associated with obesity in adults and children (P=7.27 x 10-8 and P=2.31 x 10-12,respectively). Functional analysis revealed a significant impairment of the N221D mutant onPC1/3 protein catalytic activity.In continuity of this study we decided to assess the involvement of PCSK1 gene inmonogenic obesity, knowing that only three cases of complete PCSK1 deficiency have beenreported up to now. The objectives of this study were to evaluate the prevalence of rarePCSK1 mutations contributing to human obesity and to investigate the mode of inheritance ofobesity in the context of PCSK1 deficiency. We sequenced exons of the PCSK1 gene in 845non-consanguineous extremely obese subjects of European origin and we identified eightnovel PCSK1 non-synonymous mutations in eight carriers, all heterozygous. Wecharacterized the functional consequences of the detected mutations on PC1/3 protein and wefound that 62.5% of mutations detected were predicted to be deleterious in silico and werevealed that 87.5% of mutations had an effect on the autoactivation or on the enzymaticactivity of PC1/3 in vitro. In order to estimate the degree of penetrance for the sevenpathogenic mutations, we genotyped 6,060 obese and 6,274 lean subjects. We assessed a 6-fold enrichment of these PCSK1 mutations in obese subjects (P = 0.007). We provided thefirst evidence of an increased obesity risk in heterozygous carriers of loss of functionmutations in PCSK1 gene, confirming a co-dominant mode of transmission of obesity withincomplete penetrance for this gene. The penetrance of obesity was estimated to 54.5% for108heterozygous carriers of deleterious PCSK1 mutations. Partial PCSK1 deficiency mightexplain ~ 0.83% of extreme obesity.To conclude, in addition of the syndromic forms of obesity due to a complete PCSK1deficiency, we provided the strong evidence of the contribution of common non-synonymousvariants in obesity risk and we highlighted that a partial PCSK1 deficiency is associated withan increased risk of obesity
Boucher, Sophie. "Génétique de la presbyacousie." Electronic Thesis or Diss., Sorbonne université, 2019. http://www.theses.fr/2019SORUS609.
Повний текст джерелаPresbycusis is a major public health issue worldwide with half of its variance due to genetic predisposition. The aim of this thesis was to identify presbycusis genes by whole exome sequencing (WES). We analysed 105 families, 122 simplex cases and 120 normal hearing controls. After an in silico bioinformatic analysis to select predicted pathogenic variants, and according to the autosomal dominant mode of inheritance in 95% of the families, we looked for very rare heterozygous variants (Minor allele frequency : MAF≤0.0001). We found a significative higher ratio of pathogenic variants in autosomal dominant deafness genes carried by 23,8% of mARHL and 27.8% of sARHL than controls (9,2%) (p=0,001). By studing a mouse model Tmc1N321I, we confirmed the pathogenicity of the mutation leading to congenital moderate hearing loss in homozygous mice due to reduced mechanotransduction current amplitude. The heterozygous mice present a progressive hearing loss beginning at 7 months and affecting first the high frequencies, validating also the mutation as responsible of a monogenic form of presbycusis. We discovered a new deafness gene, AP3M2, responsible of syndomic deafness if deleted and of hidden hearing loss if mutated (p.(Leu157Pro)). Lastly, we proposed Sirtuin 6 as implicated in hair cell function maintenance. WES unraveled that a large proportion of severe presbycusis is due to new mutations in autosomal dominant deafness genes arguing for a genetic continuum between early onset deafness and presbycusis. We demonstrated also the existence of monogenic forms of presbycusis that could be targeted by new personnalized therapies like gene therapy
Duclaux-Loras, Rémi. "Identification of two new genes causative of monogenic intestinal disorders Deficient function of the UNC45A-HSP90 chaperone complex impairs MYO5B expression in enterocytes and causes microvillus inclusion disease Biallelic loss-of-function mutations in IPO8 cause Loeys-Dietz-like syndrome and severe developmental defects in zebrafish." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCB087.
Повний текст джерелаMy PhD thesis project is part of the efforts led by our team to dissect Mendelian diseases causing severe intestinal disorders with the scientific goal to get insight into the molecular mechanisms of the human gut barrier and with the medical goal to improve the diagnosis and care of these rare but life-threatening diseases. In the first part of my thesis, I have participated to the analysis of data generated by targeted new generation sequencing or by whole exome sequencing in order to identify known monogenic intestinal disorders and next to identify new candidate genes. In the second part of my thesis, I have led functional studies to validate mutations in two new candidate genes. On the one hand, I am analysing the mechanism of the dramatic congenital diarrheoa observed in a girl carrying an homozygous missense mutation in UNC45, a gene very recently associated with congenital diarrhoea. On the other hand, I am characterizing the functional consequences of a homozygous mutation introducing an early stop codon in IPO8 in two siblings displaying a complex syndrome including intestinal inflammation and symptoms evocative of Loeys-Dietz syndrome. Given previous indication that IPO8 may be involved in the nuclear trafficking of Smad3, we aim at demonstrating impairment of signalling downstream TGFbeta
Redin, Claire. "NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ129/document.
Повний текст джерелаSome monogenic disorders are characterized by a vast genetic heterogeneity. In individuals with similar clinical phenotype, causative mutations can be found in one gene from a subset described as implicated in the disease. Such genetic heterogeneity limits considerably the diagnostic offer for the patients, and a majority is left without molecular diagnosis. We developed an alternative diagnostic approach by targeted high throughput sequencing (specific to the coding regions of genes of interest by a technique of exon capture) through three genetically heterogeneous disorders: Bardet-Biedl syndrome (19 genes reported), leukodystrophies (50 genes), and intellectual disability (>400 genes). In light of its efficiency, this approach has since been implemented in diagnostic routine for Bardet-Biedl syndrome and intellectual disability (80% and 25% of diagnostic yields respectively, significantly higher than those of previous methods). Beyond diagnosis, this approach allows unbiased means to assess the contribution of each gene in the disease and highlight recurrent genes, and establish new correlations genotype to phenotype, overall providing much insight in the genetics of a particular disease
Книги з теми "Aspetti monogenici"
Eli, Sprecher, ed. Progress in monogenic hair disorders. Hauppauge, New York: Nova Science Publishers, 2005.
Знайти повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.
Знайти повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.
Знайти повний текст джерелаPezzini, Alessandro. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0011.
Повний текст джерелаLennon, Rachel, and Neil Turner. The molecular basis of glomerular basement membrane disorders. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0320_update_001.
Повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.
Знайти повний текст джерелаUntil Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.
Знайти повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2016.
Знайти повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2010.
Знайти повний текст джерелаBrown, B. Ricardo. Until Darwin, Science, Human Variety and the Origins of Race. Taylor & Francis Group, 2015.
Знайти повний текст джерелаЧастини книг з теми "Aspetti monogenici"
Borstlap, A. C. "Tobacco mutants of amino acid membrane transport: Uptake of L-valine in leaf discs from the double mutant Valr-2 and its monogenic derivatives." In Fundamental, Ecological and Agricultural Aspects of Nitrogen Metabolism in Higher Plants, 115–17. Dordrecht: Springer Netherlands, 1986. http://dx.doi.org/10.1007/978-94-009-4356-8_15.
Повний текст джерелаRaeder, Helge, Silje Rafaelsen, and Robert Bjerknes. "Monogenic Phosphate Balance Disorders." In Contemporary Aspects of Endocrinology. InTech, 2011. http://dx.doi.org/10.5772/17841.
Повний текст джерелаFrise, Charlotte, and Sally Collins. "Diabetes mellitus." In Obstetric Medicine, 373–96. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198821540.003.0011.
Повний текст джерелаOwen, Katharine R. "Diagnosis of Non Type 1, Non Type 2 Forms of Diabetes." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple, 1965–70. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0249.
Повний текст джерелаChebib, Fouad T., and Vicente E. Torres. "Cystic Kidney Diseases." In Kidney Protection, edited by Vijay Lapsia, Bernard G. Jaar, and A. Ahsan Ejaz, 373–88. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190611620.003.0038.
Повний текст джерелаТези доповідей конференцій з теми "Aspetti monogenici"
Georgiev, S., J. Morais, Theodore E. Simos, George Psihoyios, Ch Tsitouras, and Zacharias Anastassi. "On Convergence Aspects of Spheroidal Monogenics." In NUMERICAL ANALYSIS AND APPLIED MATHEMATICS ICNAAM 2011: International Conference on Numerical Analysis and Applied Mathematics. AIP, 2011. http://dx.doi.org/10.1063/1.3637753.
Повний текст джерела