Relevant bibliographies by topics / Oligogene

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Oligogene'

Author: Grafiati
Published: 10 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Oligogene"

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Hadden, T. J., and A. Sodja. "An Oligogene Family Encodes Actins in the Housefly, Musca domestica." Biochemical and Biophysical Research Communications 203, no. 1 (1994): 523–31. http://dx.doi.org/10.1006/bbrc.1994.2214.

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Hohmann, Margarete, Renate Schmelz, Jochen Hampe, and Sebastian Zeißig. "Sinnvolle genetische Untersuchungen in der Gastroenterologie." DMW - Deutsche Medizinische Wochenschrift 143, no. 20 (2018): 1477–80. http://dx.doi.org/10.1055/a-0588-1684.

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Was ist neu? Hereditäre Pankreatitis In den letzten Jahren konnten mehrere Genmutationen nachgewiesen werden, die ursächlich für die Ausbildung einer hereditären Pankreatitis sind. Sie spielen auch bei der Entstehung einer chronischen Pankreatitis anderer Ätiologie eine wichtige Rolle, wobei Lebensstilfaktoren hierbei in den Vordergrund treten. Chronisch entzündliche Darmerkrankungen Das Wissen um die komplexe und multifaktorielle Ätiologie des Morbus Crohn und der Colitis ulcerosa wurde in den letzten Jahren durch die Identifikation von bislang über 200 Risikogenvarianten erweitert. Diese tra
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Rohrschneider, Klaus, and Hanno Jörn Bolz. "Bardet-Biedl-Syndrom – Diagnose und klinischer Verlauf." Klinische Monatsblätter für Augenheilkunde 237, no. 03 (2020): 239–47. http://dx.doi.org/10.1055/a-1118-3748.

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ZusammenfassungDas Bardet-Biedl-Syndrom (BBS) ist eine seltene, erblich bedingte Ziliopathie, bei der neben einer Netzhautdystrophie, meist in Form einer Stäbchen-Zapfen-Dystrophie (Retinitis pigmentosa, RP), zahlreiche weitere Symptome bestehen, vor allem Stammfettsucht, Polydaktylie, Nierenveränderungen und Lernbehinderung bzw. Intelligenzminderung. Mindestens 25 ursächliche Gene, die für Proteine mit wichtiger Rolle bei Entwicklung und Funktion primärer Zilien kodieren, sind bisher bekannt. Die Störung der mit zahlreichen Entwicklungssignalwegen assoziierten Zilien erklärt die in unterschie
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Marwood, M., K. Visser, L. A. Salamonsen, and E. Dimitriadis. "Interleukin-11 and Leukemia Inhibitory Factor Regulate the Adhesion of Endometrial Epithelial Cells: Implications in Fertility Regulation." Endocrinology 150, no. 6 (2009): 2915–23. http://dx.doi.org/10.1210/en.2008-1538.

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Embryo implantation requires the closely harmonized processes of apposition, attachment, and adhesion of the conceptus to the maternal endometrial epithelium. IL-11 and leukemia inhibitory factor (LIF), two IL-6 family cytokines, are produced by the endometrium and are absolutely required for implantation in mice. We examined the effect of IL-11 and LIF on human endometrial epithelial cell adhesion. Both cytokines increased adhesion of primary human endometrial epithelial cells to fibronectin and collagen IV. IL-11 stimulated, whereas LIF had no effect on the adhesion of trophoblast to endomet
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Keogh, Michael J., Wei Wei, Juvid Aryaman, et al. "Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 8 (2018): 813–16. http://dx.doi.org/10.1136/jnnp-2017-317234.

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BackgroundSeveral studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series.MethodsWe analysed 980 neuropathologically characterised human brains with Alzheimer’s disease (AD), Parkinson’s disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls. Genetic variants were assessed using the American College of Medical
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Longo, Luca, Gian Paolo Tonini, Isabella Ceccherini, and Patrizia Perri. "Oligogenic inheritance in neuroblastoma." Cancer Letters 228, no. 1-2 (2005): 65–69. http://dx.doi.org/10.1016/j.canlet.2004.12.052.

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ZHANG, W., A. COLLINS, G. R. ABECASIS, L. R. CARDON, and N. E. MORTON. "Mapping quantitative effects of oligogenes by allelic association." Annals of Human Genetics 66, no. 3 (2002): 211–21. http://dx.doi.org/10.1046/j.1469-1809.2002.00111.x.

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Kousi, M., and N. Katsanis. "Genetic Modifiers and Oligogenic Inheritance." Cold Spring Harbor Perspectives in Medicine 5, no. 6 (2015): a017145. http://dx.doi.org/10.1101/cshperspect.a017145.

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Kuuluvainen, Liina, Karri Kaivola, Saana Mönkäre, et al. "Oligogenic basis of sporadic ALS." Neurology Genetics 5, no. 3 (2019): e335. http://dx.doi.org/10.1212/nxg.0000000000000335.

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ObjectiveTo characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanisms in disease penetrance.MethodsAn index patient with autopsy-proven ALS was discovered to have the SOD1 p.Ala90Val mutation, which was screened in 2 Finnish ALS cohorts (n = 453). Additional contributing variants were analyzed from whole-genome or whole-exome sequencing data.ResultsSeven screened patients (1.5%) were found to carry the SOD1 heteroz
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Bell, G. "The Oligogenic View of Adaptation." Cold Spring Harbor Symposia on Quantitative Biology 74 (January 1, 2009): 139–44. http://dx.doi.org/10.1101/sqb.2009.74.003.

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Dissertations / Theses on the topic "Oligogene"

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Papadimitriou, Sofia. "Towards multivariant pathogenicity predictions: Using machine-learning to directly predict and explore disease-causing oligogenic variant combinations." Doctoral thesis, Universite Libre de Bruxelles, 2020. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/312576.

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The emergence of statistical and predictive methods able to analyse genomic data has revolutionised the field of medical genetics, allowing the identification of disease-causing gene variants (i.e. mutations) for several human genetic diseases. Although these approaches have greatly improved our understanding of Mendelian «one gene – one phenotype» genetic models, studying diseases related to more intricate models that involve causative variants in several genes (i.e. oligogenic diseases) still remains a challenge, either due to the lack of sufficient methodologies and disease-specific cohorts
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Gazzo, Andrea. "Beyond monogenic diseases: a first collection and analysis of digenic diseases." Doctoral thesis, Universite Libre de Bruxelles, 2018. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/272617.

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In the next generation sequencing era many bioinformatics tools have been developed for assisting scientists in their studies on the molecular basis of genetic diseases, often with the aim of identifying the pathogenic variants. As a consequence, in the last decades more than one hundred new disease-gene associations have been discovered. Nevertheless, the genetic basis of many genetic diseases yet remains undisclosed. It has been shown that many diseases considered as monogenic with an imperfect genotype-phenotype correlation or incomplete penetrance are, on the contrary, caused or modulated
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CERMINARA, MARIA. "Studio di meccanismi oligogenici alla base di patologie complesse dello sviluppo: disturbi del neurosviluppo e sindrome di Poland." Doctoral thesis, Università degli studi di Genova, 2022. http://hdl.handle.net/11567/1080195.

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I disturbi del neurosviluppo (NDD) sono un gruppo eterogeneo di disordini che coinvolgono il sistema nervoso, tra cui i disordini dello spettro autistico (ASD), che colpiscono circa l'1-3% dei bambini. Sono state rilevate differenti varianti causative a carico di molti geni, a evidenziare una eterogeneità genetica, ma per molti pazienti l’origine genetica rimane ancora sconosciuta. Emergono sempre più evidenze a sostegno di un’origine più complessa, caratterizzata da meccanismi oligogenici che vedono coinvolti due o più geni, con diverso impatto (major gene o modifier). La presenza in uno stes
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Basili, R. "La componente verticale della tettonica plio-quaternaria dell'Appennino Centrale." Thesis, 1999. http://hdl.handle.net/2122/366.

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This study combines different approaches in order to evaluate the vertical component of tectonic movements of the upper crust in regions of active mountain building. The study area covers a NE oriented, 40 km wide, and 220 km long strip of land which crosses the Central Apennines, from the Tyrrhenian to the Adriatic shorelines, and is aligned between the cities of Rome and S. Benedetto del Tronto. The Central Apennine is an East-verging fold-and-thrust mountain belt overriding and accreting on the subducting Adria plate. Compressional tectonics originated in Late Oligocene (25-30 Ma) and
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Quach, Steve Quan. "Maternity and cyclical oligogyny in a colony of Parachartergus colobopterus." Thesis, 1997. http://hdl.handle.net/1911/17125.

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Genetic data was obtained from a colony of Parachartergus colobopterus using DNA microsatellites. A colony cycle referred to as cyclical oligogyny is believed to account for the high relatedness in this polygynous species. The genetic data was analyzed to support the presence of cyclical oligogyny and determine some of the specific mechanisms behind it. Specifically, queen reduction, increasing reproductive dominance, sexual specialization by queens, and maternity of males (worker vs. queen) were examined. There was evidence for queen reduction occurring in this colony. To the contrary, no sup
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Boudellioua, Imene. "Semantic Prioritization of Novel Causative Genomic Variants in Mendelian and Oligogenic Diseases." Diss., 2019. http://hdl.handle.net/10754/631708.

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Recent advances in Next Generation Sequencing (NGS) technologies have facilitated the generation of massive amounts of genomic data which in turn is bringing the promise that personalized medicine will soon become widely available. As a result, there is an increasing pressure to develop computational tools to analyze and interpret genomic data. In this dissertation, we present a systematic approach for interrogating patients’ genomes to identify candidate causal genomic variants of Mendelian and oligogenic diseases. To achieve that, we leverage the use of biomedical data available from extensi
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Books on the topic "Oligogene"

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Tülümen, Erol, and Martin Borggrefe. Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—short QT syndrome. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0150.

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Short QT syndrome (SQTS) is a very rare, sporadic or autosomal dominant inherited channelopathy characterized by abnormally short QT intervals on the electrocardiogram and increased propensity to atrial and ventricular tachyarrhythmias and/or sudden cardiac death. Since its recognition as a distinct clinical entity in 2000, significant progress has been made in defining the clinical, molecular, and genetic basis of SQTS. To date, several causative gain-of-function mutations in potassium channel genes and loss-of-function mutations in calcium channel genes have been identified. The physiologica
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Schwartz, Peter J., and Lia Crotti. Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0152.

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-sympt
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Book chapters on the topic "Oligogene"

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Robinson, Jon F., and Nicholas Katsanis. "Oligogenic Disease." In Vogel and Motulsky's Human Genetics. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-540-37654-5_8.

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Singh, B. D., and A. K. Singh. "Linkage Mapping of Molecular Markers and Oligogenes." In Marker-Assisted Plant Breeding: Principles and Practices. Springer India, 2015. http://dx.doi.org/10.1007/978-81-322-2316-0_6.

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"oligogene, n." In Oxford English Dictionary, 3rd ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/6026494005.

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"Oligogenes." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_11815.

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"oligogenic, adj." In Oxford English Dictionary, 3rd ed. Oxford University Press, 2023. http://dx.doi.org/10.1093/oed/3806010573.

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Nunavath, Aswini, and T. Harisha. "Oligogenic and Polygenic Characters." In Elements of Plant Breeding. Iterative International Publishers, Selfypage Developers Pvt Ltd, 2024. http://dx.doi.org/10.58532/nbennurch216.

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Enormous progress has been made in this century about our knowledge of understanding of genetics and the rate of change is ever-increasing. Genetics has been fortunate in drawing the attention of exceptionally gifted individuals from all areas of science, including biology as well as chemistry, physics and mathematics. As a result, genetics has holding a central position in biology in the late 20th century. Insight has been gained from studying the inheritance, function and more recently, the molecular structure of individual genes from Mendel's work to that of modern molecular geneticists. Su
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Herbers, Joan M. "Ecological determinants of queen number in ants." In Queen Number and Sociality in Insects. Oxford University PressOxford, 1993. http://dx.doi.org/10.1093/oso/9780198540571.003.0012.

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Abstract I use the term polygyny to denote the peaceful coexistence of two or more mated egg-layers (queens) in the same nest site. Thus I will not consider a number of variants in reproductive structure, as reviewed by Keller and Vargo (this volume). In particular, my definition of polygyny does not include the problem of oligogyny (Holldobler and Carlin 1985), by which several queens cohabit in a domicile but maintain distinct territories, nor the problem of functional monogyny (Buschinger 1968), wherein several individuals who are capable of reproduction coexist, but in which only one femal
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Brunzell, John. "Oligogenic Syndromes Associated with Central Obesity and Insulin Resistance." In Polycystic Ovary Syndrome. Informa Healthcare, 2002. http://dx.doi.org/10.1201/9780203910948.ch14.

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Dooren, Sonia Van, Dorien Daneels, Gudrun Pappaert, Maryse Bonduelle, and Pedro Brugada. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—Brugada syndrome." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0151.

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The heritable arrhythmogenic disorder Brugada syndrome (BrS), a cardiac ion channelopathy first described in 1992, is inherited as an autosomal dominant trait characterized by incomplete penetrance, variable expression, and phenotypic overlap. These characteristics all complicate the elucidation of the underlying molecular genetic pathway. Clearly, SCN5A, the gene encoding the pore-forming alpha subunit of the cardiac sodium channel, is the major susceptibility gene associated with BrS: 20–30% of BrS patients harbour pathogenic variants in this gene and BrS patients have a more than eight time
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Renton, Alan E., Brian Fulton-Howard, Shea J. Andrews, Edoardo Marcora, and Alison M. Goate. "Genetics of Alzheimer’s Disease, Parkinson’s Disease, and Lewy Body Dementia." In Charney and Nestler's Neurobiology of Mental Illness, 6th ed., edited by Alison M. Goate. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197640654.003.0053.

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Abstract Genetic risk factors and pathogenic mechanisms underlying neurodegenerative diseases are being identified at unprecedented resolution, but larger and more diverse studies are needed. Increasing representation of non-European ancestry populations in neurodegenerative illness studies will enhance understanding of disease etiology and ameliorate health disparities. The genetic architecture of the neurodegenerative disorders Alzheimer’s disease (AD), Parkinson’s disease (PD), and Lewy body dementia (LBD) is primarily polygenic or oligogenic. Genetic, neuropathological, and clinical eviden
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Conference papers on the topic "Oligogene"

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Pohl, E., L. Richters, J. Hauke, et al. "Abstract P3-09-04: BeyondCHEK2in breast cancer: Search for additional moderately penetrant risk gene variants by analyzing the oligogenic disease course inCHEK2mutation carriers." In Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-p3-09-04.

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