Bibliografie tematiche / Molecular genetics

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Letteratura scientifica selezionata sul tema "Molecular genetics"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 29 luglio 2024

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Articoli di riviste sul tema "Molecular genetics"

1

G. Ushakiran, S. Ganga Sai Pradeepa, S. Lavanya, T. Sahithi Priya e P Krishna Kumari. "Molecular genetics". World Journal of Advanced Research and Reviews 20, n. 3 (30 dicembre 2023): 1035–39. http://dx.doi.org/10.30574/wjarr.2023.20.3.2057.

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Molecular genetics, is the study of the biochemical mechanisms of It is the study of the biochemical nature of the genetic material and it’s control of phenotype. It is the study of the connection between genotype and phenotype the connection was a chemical one. Molecular genetics often applies an "investigative approach" to determine the structure and function of genes in an organism's genome using genetic screens. Molecular genetics is a powerful methodology for linking mutations to genetic conditions that may aid the search for treatments for various genetics diseases. This field has provided insights into various biological processes, including gene regulation, heredity, evolution, and disease development. Molecular genetics techniques, such as PCR, DNA sequencing, and gene editing, have revolutionized our ability to manipulate and study genes. The integration of molecular genetics with other disciplines, like genomics and proteomics, has paved the way for advancements in personalized medicine and biotechnology .It involves analyzing the DNA and RNA molecules to understand how genetic information is stored, replicated, and expressed.
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D, Bhuvana. "Innovations in Molecular Biology-Cutting-Edge Breakthroughs in Molecular Genetics". Annals of Experimental and Molecular Biology 6, n. 1 (24 gennaio 2024): 1–4. http://dx.doi.org/10.23880/aemb-16000121.

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The field of molecular biology has experienced significant breakthroughs in recent years, driven by cutting-edge technologies and innovative research strategies. This abstract provides a concise overview of some key advancement that has shaped the landscape of molecular biology. One prominent area of progress involves the CRISPR-Cas9 gene editing system, which has revolutionized genetic manipulation. Researchers have refined and expanded its applications, enabling precise modifications to the genome for therapeutic purposes, functional genomics, and the development of genetically modified organisms. In the realm of nucleic acid sequencing, the advent of third-generation sequencing technologies has enhanced the accuracy and efficiency of deciphering complex genomes. Single-cell sequencing techniques have provided unprecedented insights into cellular heterogeneity, unraveling diverse cell populations within tissues and shedding light on the intricacies of developmental processes and disease progression. The integration of omics technologies, such as genomics, transcriptomics, proteomics, and metabolomics, has propelled systems biology to new heights. This holistic approach allows for a comprehensive understanding of biological systems, unveiling intricate molecular networks and signaling pathways. Advanced computational methods and artificial intelligence applications have played a pivotal role in processing and interpreting the vast amounts of data generated by these high-throughput techniques. Furthermore, the exploration of the microbiome's role in health and disease has gained momentum. Advances in metagenomics have enabled a deeper understanding of microbial communities, their interactions, and their impact on host physiology. The identification of specific microbial signatures associated with various diseases has opened avenues for novel therapeutic interventions and personalized medicine. Conclusion: Recent advances in molecular biology have transformed the field, offering unprecedented opportunities for scientific discovery and medical applications. The integration of cutting-edge technologies and interdisciplinary approaches continues to propel molecular biology forward, paving the way for new insights into the complexities of life at the molecular level
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Athanasiou, Y., M. Zavros, M. Arsali, L. Papazachariou, P. Demosthenous, I. Savva, K. Voskarides et al. "GENETIC DISEASES AND MOLECULAR GENETICS". Nephrology Dialysis Transplantation 29, suppl 3 (1 maggio 2014): iii339—iii350. http://dx.doi.org/10.1093/ndt/gfu162.

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Stekrova, J., J. Reiterova, V. Elisakova, M. Merta, M. Kohoutova, V. Tesar, S. Suvakov et al. "Genetic diseases and molecular genetics". Clinical Kidney Journal 4, suppl 2 (1 giugno 2011): 4.s2.28. http://dx.doi.org/10.1093/ndtplus/4.s2.28.

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Legendre, C., D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber et al. "Genetic diseases and molecular genetics". Nephrology Dialysis Transplantation 28, suppl 1 (1 maggio 2013): i309—i321. http://dx.doi.org/10.1093/ndt/gft126.

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Wierzbicki, Anthony S. "Genetics and molecular biology: Genetic epidemiology". Current Opinion in Lipidology 15, n. 6 (dicembre 2004): 699–701. http://dx.doi.org/10.1097/00041433-200412000-00011.

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Vázquez, José. "Molecular Genetics". American Biology Teacher 65, n. 8 (1 ottobre 2003): 634. http://dx.doi.org/10.2307/4451575.

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Vázquez, José. "Molecular Genetics". American Biology Teacher 68, n. 4 (1 aprile 2006): 253–54. http://dx.doi.org/10.2307/4451977.

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&NA;. "Molecular genetics". Current Opinion in Cardiology 12, n. 3 (maggio 1997): B91. http://dx.doi.org/10.1097/00001573-199705000-00017.

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Towbin, Jeffrey A. "Molecular genetics". Current Opinion in Cardiology 16, n. 3 (maggio 2001): 187. http://dx.doi.org/10.1097/00001573-200105000-00005.

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Tesi sul tema "Molecular genetics"

1

Bruiners, Natalie. "Molecular genetic analysis of preterm labour". Thesis, Stellenbosch : Stellenbosch University, 2007. http://hdl.handle.net/10019.1/17741.

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Thesis (MSc)--University of Stellenbosch, 2007.
ENGLISH ABSTRACT: The World Health Organisation (WHO) has defined preterm labour as the onset of labour before 37 completed weeks of gestation with an incidence ranging between 5-10%. Although patient care has improved, the rate of preterm birth has slowly been increasing and currently impacts significantly on maternal and fetal mortality and morbidity. The complex condition of preterm labour involves multiple etiologies and risk factors, which complicates the search for candidate markers and / or biomarkers. The aim of this prospective study was to investigate potential genetic associations with preterm labour. The study cohort consisted of consecutive first-time booking, low-risk primigravid pregnant women from a restricted geographical region. The study cohort comprised 421 [306 Coloured and 115 Black] pregnant women presenting at the Paarl Hospital Obstetric clinic. Subsequently, DNA was extracted from whole blood and investigated for a range of known polymorphisms in pro-inflammatory and anti-inflammatory cytokines, as well as the novel LGALS13 gene, for potential variants that may impact on pregnancy outcome. Screening techniques involve combinations of allele-specific PCR amplification, Multiphor SSCP/HD analysis, restriction enzyme analyses and DNA sequencing. A significant association was demonstrated between the IL-1RN*2-allele and adverse pregnancy outcome, mainly in the preterm labour and hypertension group. The presence TNFα-308 A-allele was associated with overall adverse pregnancy outcome and preterm labour. In addition to this, a novel IL-1RN allele was identified in the control group. Mutation screening and subsequent statistical methods revealed an association between a novel LGALS13 exonic variant, 221delT, and preterm labour in Coloured women. Two previouslydocumented intronic variants (IVS2-22A/G and IVS3+72T/A) demonstrated linkage disequilibrium, signifying evolutionary conservation of exon three. Additionally, two novel intronic variants, IVS2-36 G/A and IVS2-15 G/A, demonstrated no association with adverse pregnancy outcome. In this study we identified rare novel exonic variants; two non-synonymous variants in exon three (M44V, [N=2] and K87R, [N=1]) and a silent variant in exon four (P117P, [N=1]) - all identified in individuals from the control cohort. Within coding exon three, an interesting variant [“hotspot”] was identified, which represents six polymorphic bases within an 11bp stretch. No associations were demonstrated with these variants and pregnancy outcome. Furthermore, a previously documented 5' “‘promoter” variant, -98 A/C, was identified and demonstrated no association with adverse pregnancy outcome. However, subdivision of lateonset pre-eclamptic cases revealed a significant association with the A-allele and late-onset preeclampsia. Genotype-phenotype investigation demonstrated association between the IL-10 -1082 A/G, IL-4 C/T and 221delT loci and poor pregnancy progress which manifested as (i) delivery of infants weighing <2000g, (ii) before 37 weeks of gestation. The findings of this study will strengthen our understanding of the pathophysiology underlying pregnancy complications and facilitate the further development of effective treatment strategies to reduce maternal and fetal morbidity and mortality.
AFRIKAANSE OPSOMMING: Die Wêreld Gesondheid Organisasie (WHO) klassifiseer voortydse kraam as kontraksie voor 37 volledige weke, met ‘n insidensie tussen 5-10%. Alhoewel pasiënte-sorg verbeter het, neem die tempo van voortydse geboorte steeds toe, wat ‘n groot impak het op moederstrefte en fetale mortaliteit en morbiditeit. Die komplekse kondisie van voortydse kraam sluit veelvoudige oorsake en risiko faktore in, wat die navorsing van kandidaat en / of biologiese merkers kompliseer. Die doel van hierdie prospektiewe studie, was die potensiële navorsing van genetiese assosiasies met voortydse kraam. Die studie kohort bevat opeenvolgende eerste bespreking van lae risiko primigravida swanger vrouens vanaf ‘n beperkte geografiese omgewing. Die studie kohort beslaan 421 [306 Kleurling en 115 Swart] swanger vrouens teenwoordig by die Paarl Hospitaal Verloskunde kliniek. Vervolgens was DNS geëkstraeer van bloedmonsters en geondersoek vir ‘n verskeidenheid van bekende polimorfismes in pro-inflammatoriese en antiinflammatoriese sitokiene, insluitend die nuwe sifting van die LGALS13 geen potensiaal vir variante wat ‘n impak op swangerskap uitkomste sal hê. Die siftings tegnieke toegepas, sluit in ‘n kombinasie van alleel-spesifieke amplifikasie, Multiphor enkelstring konformasie polimorfisme / heterodupleks analise, restriksie ensiem verterings en volgorde bepalings tegnieke. ‘n Betekenisvolle assosiasie was gedemonstreer tussen die IL-1RN*2-alleel en nadelige swangerskap, beperk tot voortydse kraam en die hipertensie groep. Die teenwoordigheid van die TNFα-308 A-alleel was geassosieer met algehele nadelige uitkomste en voortydse kraam. Daarby, was ‘n nuwe IL-1RN alleel geïdentifiseer in die kontrole groep. Mutasie sifting en opeenvolgende statistiese metodes, het ‘n assosiasie getoon tussen ‘n nuwe LGALS13 koderende variant, 221delT, en voortydse kraam in Kleurling vrouens. Twee voorafbeskryfde introniese variante (IVS2-22 A/G en IVS3+72 T/A), het ‘n betekenisvolle bewys opgelewer dat daar koppelings-onewewig bestaan tussen hierdie variante, en toon evolusionêre konservasie van ekson drie. Addisioneel was twee nuwe introniese variante ontdek, IVS2-36 G/A en IVS2-15 G/A, wat geen assosiasie getoon nie. In hierdie studie het ons ‘n nuwe seldsame koderende variante geïdentifiseer in die kontrole groep, waarvan twee nie-sinonieme variante was in ekson drie (M44V, N=2 en K87R, N=1) en ‘n stil variasie in ekson vier (P117P, N=1). Geleë in die koderende area van ekson drie, was ’n interessante variant [“hotspot’] ontdek, waarvan ses basisse in ‘n 11 basis paar area polimorfies is. Geen assosiasie was getoon met hierdie variante en swangerskap uitkomste nie. Verder was ‘n voorafbeskryfde 5' ‘promotor’ variant, -98 A/C, geïdentifiseer wat geen assosiasie getoon met nadelige swangerskap uitkomste nie. Onderverdeling van laat-aanvangs preeklampsie, het getoon dat die A-alleel ‘n betekenisvolle assosiasie getoon het met die ontwikkeling van laat pre-eklampsie. Genotipe-fenotipe interaksies het ’n assosiasie getoon tussen die IL-10 -1082 A/G, IL-4 C/T en 221delT lokusse en nadelige swangerskap uitkomste, wat manifesteer as (i) kraam van suigelinge wat <2000g weeg, (ii) geboorte voor 37 weke. Die bevindings van hierdie studie sal ons basiese kennis verbeter oor die patologie beskrywend aan swangerskap komplikasies, asook die fasilitering en ontwikkeling van effektiewe behandelings strategieë, om moederstrefte en fetale mortaliteit en morbiditeit te verminder.
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Fourie, Mariesa. "Molecular characterization and further shortening of recombinant forms of the Lr19 translocation". Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/189.

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Hedmark, Eva. "Conservation Genetics of Scandinavian Wolverines". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6636.

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Howell, Viive Maarika. "Molecular Genetics of Hyperparathyroidism". University of Sydney, 2005. http://hdl.handle.net/2123/6022.

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Doctor of Philosophy(PhD)
Hyperparathyroidism, a disease of the parathyroid glands, is one of the most common endocrinopathies, having a prevalence of 1 – 3 per 1000 individuals. It is characterised by calcium insensitive hypersecretion of parathyroid hormone, and increased cell proliferation. While the treatment for familial as well as many sporadic tumours associated with hyperparathyroidism includes parathyroidectomy, the extent of surgery and the follow-up monitoring regime, are dependent on accurate clinical and histopathological classification of the lesion. However, overlaps in histopathological and morphological features confound distinctions between the three main classifications of adenoma, hyperplasia and carcinoma and differential diagnosis of these lesions remains challenging. At the start of this candidature in January 2002, the genes associated with two familial syndromes in which hyperparathyroidism may feature, Multiple Endocrine Neoplasia (MEN) 1 and 2 had been identified, respectively MEN1 and RET. In addition, overexpression or translocation of cyclin D1 had been identified in both benign and malignant sporadic lesions, indicating a role for cyclin D1 in parathyroid tumorigenesis. However, the underlying events leading either directly, or indirectly, to the development of a large proportion of parathyroid lesions are still largely unknown. The work described in this thesis has contributed to the understanding of parathyroid lesions and the diagnosis and prognosis of affected individuals. During this candidature, constitutive mutation of HRPT2 was associated with Hyperparathyroidism–Jaw Tumour syndrome (HPT-JT). HRPT2 mutation analysis and loss of heterozygosity studies at 1q24-32 in parathyroid tumours presented in this thesis identified the strong association of HRPT2 mutation with sporadic parathyroid malignancy. In addition, 2-hits affecting HRPT2 were identified in several tumours suggestive of a role for HRPT2 as a tumour suppressor gene in sporadic parathyroid tumorigenesis. Microarray analysis of parathyroid tumours presented in this thesis identified three broad clusters of tumours. Cluster 1 comprised predominantly hyperplastic specimens and also included the normal tissue. Cluster 2, the most robust of the clusters, consisted of tumours harbouring HRPT2 mutations. The HPT-JT-associated tumours, both benign and malignant, and sporadic carcinomas, comprised this cluster. Cluster 3 contained the majority of the sporadic adenoma specimens, some hyperplasia, as well as all of the MEN 1-associated tumours. The cluster data is strongly suggestive that parathyroid tumours with somatic HRPT2 mutation, or tumours developing on a background of germline HRPT2 mutation, follow pathways distinct from those involved in mutant MEN 1-related parathyroid tumours. The results of this work provide strong evidence for an adenoma to carcinoma progression model for parathyroid tumorigenesis in the presence of a germline HRPT2 mutation. With the knowledge that both HRPT2 and MEN1 have significant roles in familial as well as sporadic parathyroid tumorigenesis, assays for mutation screening of these two genes have been developed as part of this thesis. These assays will facilitate a rapid molecular diagnosis for patients with one of these familial syndromes. Furthermore, novel putative biomarkers for different parathyroid tumour subtypes have also been identified. VCAM1 and UCHL1 (PGP9.5) were found to be significantly overexpressed in tumours harbouring an HRPT2 mutation at both the transcript and protein level. These two molecules are suggested as putative biomarkers for the discrimination of sporadic carcinoma or HPT-JT-associated tumours. RALDH2 transcript and protein were highly significantly overexpressed in the hyperplasia class relative to the adenoma class, and this molecule is suggested as a putative biomarker for discrimination of these classes of parathyroid tumours. These biomarkers may assist in the accurate diagnosis and prognosis of hyperparathyroidism. Large cohort studies of these putative biomarkers will be required to determine their robustness in discriminating parathyroid tumour subtypes. Further studies of their putative role in parathyroid tumorigenesis may identify them as novel molecular targets for future therapeutics to treat both hyperplastic and neoplastic parathyroid lesions.
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Wallace, Robyn. "Molecular genetics of epilepsy /". Title page, contents and summary only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09phw193.pdf.

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Thesis (Ph. D.)--University of Adelaide, Dept. of Paediatrics, 1997.
Errata pasted onto back end-paper. Copies of author's previously published articles inserted. Includes bibliographical references (leaves 157-176).
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Busfield, Frances. "Molecular genetics of dementia". Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336329.

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Hill, Margaret J. "Molecular genetics of tabtoxin". Thesis, University of East Anglia, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.292600.

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Asumalahti, Kati. "Molecular genetics of psoriasis". Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/asumalahti/.

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Law, Bic-fai Fian, e 羅璧輝. "Molecular genetics of esophageal squamous cell carcinoma". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3660446X.

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Sjödin, Per. "Effects of Selection and Demography on DNA Polymorphism in Black Mustard (Brassica nigra)". Doctoral thesis, Uppsala universitet, Evolutionär funktionsgenomik, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6633.

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The evolution of three genes from the CONSTANS-LIKE gene family is studied in Brassica nigra. We use a combination of population genetic and phylogenetic techniques in order to assess the relative importance of selection and demography on the pattern of DNA variation. The analysis is complicated by the fact that they are recent duplicates of each other and hence there is a potential redundancy factor that has to be considered. The relationship between two of the genes, COa and COb, is however much closer than between any relationship to the third gene, COL1. The three genes are all suspected to play a part in the natural variation of flowering time of B. nigra. The thesis consists of four papers. The first paper is a technical paper concerning when and if the existence of an effective population size can be assumed. More specifically, the impact of population structure and a fluctuating (census) population size on the standard coalescent is studied. The second paper is a population genetic study of B. nigra using micro-satellites and RFLP. The resulting population genetic structure is argued to reflect the early spread of agriculture in Europe. In the third paper the general evolution of the three genes is studied. We find that not all aspects of the data could be accounted for by demography or redundancy effects, but that selection most likely played a part in the evolution of these genes. The fourth paper concerns the functional status of COb, whether it is a pseudogene or not. The most likely scenario is that COb recently became non-functional due to the fixation of a deleterious mutation during a recent bottleneck.
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Libri sul tema "Molecular genetics"

1

Hancock, J. T. Molecular genetics. Oxford: Butterworth-Heinemann, 1999.

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Smith-Keary, Peter. Molecular Genetics. London: Macmillan Education UK, 1991. http://dx.doi.org/10.1007/978-1-349-11732-1.

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D, Dickson. Molecular genetics. Uxbridge: Brunel University, 1994.

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J, Benz Edward, a cura di. Molecular genetics. Edinburgh: Churchill Livingstone, 1989.

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J, Benz Edward, a cura di. Molecular genetics. Edinburgh: Churchill Livingstone, 1989.

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Ian, Sudbery, a cura di. Human molecular genetics. 3a ed. Harlow, England: Pearson Prentice Hall, 2009.

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Sudbery, Peter. Human molecular genetics. Harlow, Essex: Longman, 1998.

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Strachan, Tom. Human molecular genetics. Oxford: BIOS Scientific, 1996.

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Dale, Jeremy. Molecular genetics of bacteria. 2a ed. Chichester: J. Wiley, 1994.

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Dale, Jeremy. Molecular genetics of bacteria. 4a ed. Chichester, West Sussex, England: John Wiley & Sons, 2004.

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Capitoli di libri sul tema "Molecular genetics"

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le Maire, Marc, Raymond Chabaud e Guy Hervé. "Molecular Genetics". In Laboratory Guide to Biochemistry, Enzymology, and Protein Physical Chemistry, 17–24. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3820-2_2.

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Reuter, Martin, Andrea Felten e Christian Montag. "Molecular Genetics". In Neuroeconomics, 443–61. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-642-35923-1_23.

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Hangay, George, Susan V. Gruner, F. W. Howard, John L. Capinera, Eugene J. Gerberg, Susan E. Halbert, John B. Heppner et al. "Molecular Genetics". In Encyclopedia of Entomology, 2455. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6359-6_4660.

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Jeffery, Austin. "Molecular Genetics". In Encyclopedia of Personality and Individual Differences, 2962–67. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-24612-3_777.

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Jeffery, Austin. "Molecular Genetics". In Encyclopedia of Personality and Individual Differences, 1–5. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-28099-8_777-1.

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Gorczyca, Wojciech. "Molecular Genetics". In Atlas of Differential Diagnosis in Neoplastic Hematopathology, 183–205. 4a ed. Boca Raton: CRC Press, 2021. http://dx.doi.org/10.1201/9781003120445-08.

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Graf, Ulrich, Nancy van Schaik e Friedrich E. Würgler. "Molecular Biology". In Drosophila Genetics, 189–202. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76805-7_8.

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Foroud, Tatiana, e Daniel L. Koller. "Genetic Inheritance and Population Genetics". In Molecular Genetic Pathology, 393–403. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-405-6_14.

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Foroud, Tatiana, e Daniel L. Koller. "Genetic Inheritance and Population Genetics". In Molecular Genetic Pathology, 111–27. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-4800-6_5.

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Twfieg, Mohammed-Elfatih, e M. Dawn Teare. "Molecular Genetics and Genetic Variation". In Methods in Molecular Biology, 3–12. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60327-416-6_1.

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Atti di convegni sul tema "Molecular genetics"

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Giannelli, B. F. "MOLECULAR GENETICS OF HAEMOPHILIA". In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643981.

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Haemophilia B, an X-linked recessive disease with an incidence of 1/30,000 newborn males, is due to defects in the gene for coagulation factor IX, which is on the long am of the X chromosome at band Xq27.1. This gene consists of approximately 34 Kb and contains 8 exons which specify a mRtfc of 2803 residues coding for a protein of 415 aa preceded by a prepro signal peptide of 46 aa. Coripanson of the functional domains of the factor IX protein with the exon structure of the gene supports the exon/protein domain hypothesis of gene evolution. The factor IX gene seems to be formed by a number of functionally and evolutionally independent modules. The signal peptide and the gla (γcarboxy-glutamic) region encoded in the first three exons are homologous to those of factor X, protein C and prothrombin. Thevfourth and fifth exons which code for the connecting peptide are homologous to one another and to the epidermal growth factor, a module that has been used in the construction of a great variety of proteins including different members of the coagulation and fibrinolytic pathways. The sixth exon encodes the activation peptide region, while the catalytic region of factor IX is coded by the seventh and eighth exon. This is at variance with other serine protease genes that have different exons for the segments containing the cardinal ami no-acids of the active centre (histidine, aspartic acid and serine).Natural selection acts against detrimental mutations of the factor IX gene and at each generation a proportion of haemophilia B genes is eliminated, as a significant number of patients does not reproduce. There appears to be no selective advantage to the heterozygote and therefore haemophilia B is maintained in the population by new mutations. Consequently, a significant proportion of patients should be born to non-carrier mothers, and unrelated patients should carry different gene defects, as recently verified by detailed analysis of individual haemophilia B genes.The defects of factor IX described so far comprise both point mutations and gene deletions. The latter affect either part or the whole of the gene and are often associated with the development of antibodies against therapeutically adninistered factor IX (the inhibitor complication). Since gene deletions may result in the complete absenceof factor IX synthesis or in the production of an extremely abnormal product, it has been suggested that mutationspreventing the synthesis of a factor IX gene product capable of inducing immune tolerance to normal factor IX is important in predisposing to the inhibitor complication.Among the point mutations described so far, those affecting the signal peptide are of particular interest. Substitutions of the arginine at positions -4 and -1 cause failure of propeptide cleavage. Thus they indicate that the propeptide consists of 18 aa an(lthat lts excision is necessary for factor IX function. It appears also that the propeptide contains a signal for γcarboxylation which has been conserved during the evolution of different γcarboxylated proteins.In spite of coagulant treatment, haemophilia B is a serious disease and one for which genetic counselling is required. Paramount for this is the detection of carriers and the diagnosis ofaffected male fetuses. DNA probes derived from the cloned factor IX gene have been used for this purpose. Carrier and first or second trimester prenatal diagnoses have been done using factors IX gene markers to follow the transmission of haemophilia B genes. Six sequence variations causing restriction fragment length polymorphisms (RFLP) in the factor IX gene have been detected and used as markers for such indirect diagnoses The efficiency of the above markers is reduced by linkage disequilibrium but, nevertheless, they offer definite carrier and nremtal diagnoses in 75-80% of the relatives of familial cases of haemophilia B.The indirect detection of gene defects is of modest help in the counselling of individuals from the families of isolated patients, but new methods for the direct detection of gene mutations promise better results in such families and also the attainment of % diagnostic success in relatives of familial cases.Finally the successful expression of recombinant factor IX genes in tissue culture and transgenic mammals raises hopes of therapeutic advances.
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2

MENDLEWICZ, J. "MOLECULAR GENETICS IN PSYCHIATRY RESEARCH". In IX World Congress of Psychiatry. WORLD SCIENTIFIC, 1994. http://dx.doi.org/10.1142/9789814440912_0004.

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3

Sari, Lili Nur Indah, e Elza Ibrahim Auerkari. "Molecular Genetics and Epigenetics of Ankyloglossia". In 11th International Dentistry Scientific Meeting (IDSM 2017). Paris, France: Atlantis Press, 2018. http://dx.doi.org/10.2991/idsm-17.2018.14.

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Monica, Monica, e Elza Ibrahim Auerkari. "Molecular Genetics of Peutz-Jegher Syndrome". In 11th International Dentistry Scientific Meeting (IDSM 2017). Paris, France: Atlantis Press, 2018. http://dx.doi.org/10.2991/idsm-17.2018.19.

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5

Utami, Wulan Sri, Ferry Pergamus Gultom, Harismanto e Elza Ibrahim Auerkari. "Molecular genetics and epigenetics of ameloblastoma". In ADVANCES IN INTELLIGENT APPLICATIONS AND INNOVATIVE APPROACH. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0140214.

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6

"Molecular phylogeny of plant 14-3-3 proteins family". In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-133.

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7

"Molecular, сytogenetic, and morphological features of primary octoploid triticale". In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-055.

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8

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

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Hemophilia A is a common X linked hereditary disorder of blood coagulation due to deficiency of factor 8. The gene for factor 8 has been cloned and characterized (Nature 312:326-342, 1984). It is divided into 26 exons and 25 introns and spans 186 kb of DNA. The CGNA is 9 kb and codes for 2351 amino acids. The first 19 amino acids comprise the secretory leader peptide and the mature excreted polypeptide consists of 2332 amino acids. The nucleotide sequence of the exons and the exon-intron junctions is known and the complete amino acid sequence has been deducedSeveral laboratories have used cloned factor 8 DNA sequences as probes to characterized mutations that are responsible for hemophilia A in certain pedigrees. These mutations have been characterized by restriction analysis, oligonucleotide hybridization, cloning and sequencing of DNA from appropriate patientsIn about 500 patients with hemophilia A examined, the molecular defect has been recognized in 39. Both gross alterations (mainly deletions) and point mutations of the factor 8 gene have been found.A total of 19 different deletions have been observed. No two unrelated pedigrees share the same exact deletion.The size of the deleted DNA varies from 1.5 kb to more than 210 kb. All but one of these deletions are associated with severe hemophilia A. A deletion of 6 kb that contains exon 22 only is associated with moderate hemophilia. Some deletions are present in patients with inhibitors to factor 8. No correlation of the size or the position of the deletions can be found with the presence of inhibitors to factor 8.A total of 20 point mutations have been characterized. All are recognized by restriction analysis and involve Taq I sites. All are mutations of CpG dinucleotides and generate nonsense or missence codons. Unrelated pedigrees have the same single nucleotide change because of independent origin of the same mutation. In many instances de novo occurrence of a point mutation has been observed. CpG dinucleotides are hot spots for mutation to TG or CA presumably because of spontaneous deamination of methylcytosine. Some point mutations are present in patients with inhibitors but no correlation of the site of mutation and inhibitor formation has been found. The nonsense mutations are present in patients with severe hemophilia A. A missense mutation (Arg Gin) in exon 26 was found in a patient with mild hemophilia while another Arg Gin mutation in exon 24 has been observed in a patient with severe disease. The creation of a donor splice site in IVS 4 of factor 8 gene has been observed in a patient with mild hemophilia.Few DNA polymorphisms within the factor 8 gene and two other closely linked polymorphisms have been used for carrier detection and prenatal diagnosis of hemophilia A. These DNA markers are useful in more than 90% of families at risk for hemophilia A.The author thanks Drs. Gitschier, Din, Olek, Pirastou, Lawn for communication of their data prior to publication.The hemophilia project at Johns Hopkins was supported by an Institutional grant and NIH grant to S.S.A. and Haig H. Kazazian, Jr.
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Weitz, C., Y. Miyake, K. Shinzato, E. Montag e J. Nathans. "Studies on the molecular genetics of tritanopia". In OSA Annual Meeting. Washington, D.C.: Optica Publishing Group, 1990. http://dx.doi.org/10.1364/oam.1990.fm3.

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Tritanopia differs fundamentally from other inherited anomalies of color vision. Its autosomal dominant tranmission1 implies a mechanism unlike that of protanopia or deuteranopia. Because people with tritanopis lack a measurable blue-cone electroretinographic response,2 the defect is likely localized within blue-cone photoreceptors. These findings suggest that a mutant gene product actively interferes with blue-cone function or viability. Could a mutation in the gene encoding the blue-sensitive visual pigment3 be responsible for tritanopia? To test this hypothesis we have used the polymerase chain reaction and denaturing gradient gel electrophoresis to screen for sequence variation in this gene in members of five families in which tritanopia appears in more than one generation. We have found three different single-nucleotide changes in affected members of four families that were not detected in control subjects of appropriate ancestry (p = 0.001, p = 0.003, and p = 0.003, respectively). Two of the changes encode different singleamino-acid substitutions and the third, a single-nucleotide deletion, disrupts a sequence likely to be important for proper splicing of messenger RNA. Expression studies of visual-pigment DNA constructs bearing these sequence alterations are in progress.
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Neitz, Maureen. "Molecular genetics of red-green color vision". In OSA Annual Meeting. Washington, D.C.: Optica Publishing Group, 1990. http://dx.doi.org/10.1364/oam.1990.fm2.

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Genes encoding cone pigments sensitive to middle-to-long wavelengths lie in a head-to-tail tandem array on the X-chromosome. Although two X-encoded genes, one for long-wavelength-sensitive pigments and one for middle-wavelength-sensitive pigments, are sufficient to serve trichromatic color vision, most people have more than two such genes. The arrangement, location, and degree of homology of the pigment genes promote recombination within the tandem arrays. Such recombination events produce pigment-gene complements that differ in the number and sequences of individual genes and in the interrelationships between genes. The accumulation of recombination-generated changes over the span of evolutionary time has culminated in a large number of X-encoded photopigment gene complements in the human population. It is, thus, not surprising that there are widespread variations in human color vision.
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Rapporti di organizzazioni sul tema "Molecular genetics"

1

Beitz, Donald, Micha Ron, Albert E. Freeman, Moshe Shani, Alan Myers e B. T. McDaniel. Mitochondrial Molecular Genetics and Milk Production. United States Department of Agriculture, maggio 1993. http://dx.doi.org/10.32747/1993.7603822.bard.

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Cullen, D. Molecular genetics of ligninase expression. Progress report. Office of Scientific and Technical Information (OSTI), luglio 1995. http://dx.doi.org/10.2172/81012.

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3

Ow, David W. ow@pgec ams usda gov. Molecular Genetics of Metal Detoxification: Prospects for Phytoremediation. Office of Scientific and Technical Information (OSTI), settembre 2000. http://dx.doi.org/10.2172/781718.

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Ow, David W. Molecular Genetics of Metal Detoxification: Prospects for Phytoremediation. Office of Scientific and Technical Information (OSTI), giugno 1999. http://dx.doi.org/10.2172/828166.

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5

Chamovitz, Daniel A., e Zhenbiao Yang. Chemical Genetics of the COP9 Signalosome: Identification of Novel Regulators of Plant Development. United States Department of Agriculture, gennaio 2011. http://dx.doi.org/10.32747/2011.7699844.bard.

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This was an exploratory one-year study to identify chemical regulators of the COP9 signalosome. Chemical Genetics uses small molecules to modify or disrupt the function of specific genes/proteins. This is in contrast to classical genetics, in which mutations disrupt the function of genes. The underlying concept is that the functions of most proteins can be altered by the binding of a chemical, which can be found by screening large libraries for compounds that specifically affect a biological, molecular or biochemical process. In addition to screens for chemicals which inhibit specific biological processes, chemical genetics can also be employed to find inhibitors of specific protein-protein interactions. Small molecules altering protein-protein interactions are valuable tools in probing protein-protein interactions. In this project, we aimed to identify chemicals that disrupt the COP9 signalosome. The CSN is an evolutionarily conserved eight-subunit protein complex whose most studied role is regulation of E3 ubiquitinligase activity. Mutants in subunits of the CSN undergo photomorphogenesis in darkness and accumulate high levels of pigments in both dark- and light-grown seedlings, and are defective in a wide range of important developmental and environmental-response pathways. Our working hypothesis was that specific molecules will interact with the CSN7 protein such that binding to its various interacting proteins will be inhibited. Such a molecule would inhibit either CSN assembly, or binding of CSN-interacting proteins, and thus specifically inhibit CSN function. We used an advanced chemical genetic screen for small-molecule-inhibitors of CSN7 protein-protein interactions. In our pilot study, following the screening of ~1200 unique compounds, we isolated four chemicals which reproducibly interfere with CSN7 binding to either CSN8 or CSN6.
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Konisky, J. Genetics and molecular biology of methanogen genes. Final report. Office of Scientific and Technical Information (OSTI), ottobre 1997. http://dx.doi.org/10.2172/555346.

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Cahaner, Avigdor, Susan J. Lamont, E. Dan Heller e Jossi Hillel. Molecular Genetic Dissection of Complex Immunocompetence Traits in Broilers. United States Department of Agriculture, agosto 2003. http://dx.doi.org/10.32747/2003.7586461.bard.

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Objectives: (1) Evaluate Immunocompetence-OTL-containing Chromosomal Regions (ICRs), marked by microsatellites or candidate genes, for magnitude of direct effect and for contribution to relationships among multiple immunocompetence, disease-resistance, and growth traits, in order to estimate epistatic and pleiotropic effects and to predict the potential breeding applications of such markers. (2) Evaluate the interaction of the ICRs with genetic backgrounds from multiple sources and of multiple levels of genetic variation, in order to predict the general applicability of molecular genetic markers across widely varied populations. Background: Diseases cause substantial economic losses to animal producers. Emerging pathogens, vaccine failures and intense management systems increase the impact of diseases on animal production. Moreover, zoonotic pathogens are a threat to human food safety when microbiological contamination of animal products occurs. Consumers are increasingly concerned about drug residues and antibiotic- resistant pathogens derived from animal products. The project used contemporary scientific technologies to investigate the genetics of chicken resistance to infectious disease. Genetic enhancement of the innate resistance of chicken populations provides a sustainable and ecologically sound approach to reduce microbial loads in agricultural populations. In turn, animals will be produced more efficiently with less need for drug treatment and will pose less of a potential food-safety hazard. Major achievements, conclusions and implications:. The PI and co-PIs had developed a refined research plan, aiming at the original but more focused objectives, that could be well-accomplished with the reduced awarded support. The successful conduct of that research over the past four years has yielded substantial new information about the genes and genetic markers that are associated with response to two important poultry pathogens, Salmonella enteritidis (SE) and Escherichia coli (EC), about variation of immunocompetence genes in poultry, about relationships of traits of immune response and production, and about interaction of genes with environment and with other genes and genetic background. The current BARD work has generated a base of knowledge and expertise regarding the genetic variation underlying the traits of immunocompetence and disease resistance. In addition, unique genetic resource populations of chickens have been established in the course of the current project, and they are essential for continued projects. The US laboratory has made considerable progress in studies of the genetics of resistance to SE. Microsatellite-marked chromosomal regions and several specific genes were linked to SE vaccine response or bacterial burden and the important phenomenon of gene interaction was identified in this system. In total, these studies demonstrate the role of genetics in SE response, the utility of the existing resource population, and the expertise of the research group in conducting such experiments. The Israeli laboratories had showed that the lines developed by selection for high or low level of antibody (Ab) response to EC differ similarly in Ab response to several other viral and bacterial pathogens, indicating the existence of a genetic control of general capacity of Ab response in young broilers. It was also found that the 10w-Ab line has developed, possibly via compensatory "natural" selection, higher cellular immune response. At the DNA levels, markers supposedly linked to immune response were identified, as well as SNP in the MHC, a candidate gene responsible for genetic differences in immunocompetence of chickens.
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Fox, Jacob, e Hassan Fathallan-Shaykh. Molecular Genetics Techniques to Develop New Treatments for Brain Cancers. Office of Scientific and Technical Information (OSTI), settembre 2006. http://dx.doi.org/10.2172/900310.

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Gunsalus, R. P. Molecular biology and genetics of the acetate-utilizing methanogenic bacteria. Office of Scientific and Technical Information (OSTI), gennaio 1991. http://dx.doi.org/10.2172/6967641.

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Robert P. Gunsalus. Molecular Biology and Genetics of the Acetate-Utilizing Methanogenic Bacteria. Office of Scientific and Technical Information (OSTI), luglio 2003. http://dx.doi.org/10.2172/859404.

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