FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1979417095> ?p ?o ?g. }

• W1979417095 endingPage "264" @default.
• W1979417095 startingPage "263" @default.
• W1979417095 abstract "To the Editor: As a medical geneticist, I always face the difficulty of explaining variable penetrance and expressivity in a genetic disorder to my patients. This means that the same disease causing mutation may produce significantly variable manifestations of the disorder (from asymptomatic to severely affected) even in members of the same family as well as in monozygotic twins. Indeed, elegant phrases, such as stochastic or variable gene expression/regulation as well as noise in gene regulation may be found in the literature that may explain this phenomenon.1.Raser J.M. O'Shea E.K. Noise in gene expression: origins, consequences, and control.1:CAS:528:DC%2BD2MXhtVWntLvO10.1126/science.1105891Science. 2005; 309: 2010-2013Google Scholar,2.Bratsun D. Volfson D. Tsimring L.S. Hasty J. Delay-induced stochastic oscillations in gene regulation.1:CAS:528:DC%2BD2MXhtFKjsLfM10.1073/pnas.0503858102Proc Natl Acad Sci U S A. 2005; 102: 14593-14598Google Scholar The source of these genetic fluctuations can be extrinsic (environmental) and/or intrinsic (arising in the cells or the organism). Complicated equations are utilized to describe this probability in gene expression. Nonetheless, the conclusion is discouraging during genetic counseling since, for instance, an asymptomatic carrier of an autosomal dominant pathogenic mutation may have a 50% chance of transmitting a disorder with unpredictable severity. One has to admit that despite of the tremendous advancement in unraveling the genetic basis of human diseases; probability and chance complicate our knowledge and significantly affect our capability for prognosis. Consequently, while there is much wisdom in Albert Einstein's comment that “God does not play dice with the universe,” it is humbling to experience our limitations in understating the stochastic elements in nature. Despite his earlier comment, Einstein himself beautifully phrased this wonder later in his life: “The most beautiful and deepest experience a man can have is the sense of the mysterious. It is the underlying principle of religion as well as all serious endeavors in art and science. He who never had this experience seems to me, if not dead, then at least blind. To sense that behind anything that can be experienced there is something that our mind cannot grasp and whose beauty and sublimity reaches us only indirectly and as a feeble reflection, this is religiousness. In this sense I am religious. To me it suffices to wonder at these secrets and to attempt humbly to grasp with my mind a mere image of the lofty structure of all that is there.”3.Torrance T. Einstein and God. Center of Theological Inquiry, Princeton (NJ), 2002-2004. Available at: http://www.ctinquiry.org/publications/reflections_volume_1/torrance.htm. Accessed February 21, 2006.Google Scholar How true this is for the medical genetics of our era." @default.
• W1979417095 created "2016-06-24" @default.
• W1979417095 creator A5006728046 @default.
• W1979417095 date "2006-04-01" @default.
• W1979417095 modified "2023-09-25" @default.
• W1979417095 title "Probability in gene expression" @default.
• W1979417095 cites W2044692345 @default.
• W1979417095 cites W2062404235 @default.
• W1979417095 doi "https://doi.org/10.1097/01.gim.0000214454.70349.6f" @default.
• W1979417095 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16617250" @default.
• W1979417095 hasPublicationYear "2006" @default.
• W1979417095 type Work @default.
• W1979417095 sameAs 1979417095 @default.
• W1979417095 citedByCount "2" @default.
• W1979417095 countsByYear W19794170952020 @default.
• W1979417095 countsByYear W19794170952021 @default.
• W1979417095 crossrefType "journal-article" @default.
• W1979417095 hasAuthorship W1979417095A5006728046 @default.
• W1979417095 hasBestOaLocation W19794170951 @default.
• W1979417095 hasConcept C104317684 @default.
• W1979417095 hasConcept C126322002 @default.
• W1979417095 hasConcept C127716648 @default.
• W1979417095 hasConcept C137916694 @default.
• W1979417095 hasConcept C15744967 @default.
• W1979417095 hasConcept C199360897 @default.
• W1979417095 hasConcept C200544954 @default.
• W1979417095 hasConcept C2776738285 @default.
• W1979417095 hasConcept C2777910003 @default.
• W1979417095 hasConcept C2779134260 @default.
• W1979417095 hasConcept C2909352501 @default.
• W1979417095 hasConcept C41008148 @default.
• W1979417095 hasConcept C501734568 @default.
• W1979417095 hasConcept C54355233 @default.
• W1979417095 hasConcept C71924100 @default.
• W1979417095 hasConcept C80227256 @default.
• W1979417095 hasConcept C86803240 @default.
• W1979417095 hasConcept C90559484 @default.
• W1979417095 hasConcept C92811239 @default.
• W1979417095 hasConceptScore W1979417095C104317684 @default.
• W1979417095 hasConceptScore W1979417095C126322002 @default.
• W1979417095 hasConceptScore W1979417095C127716648 @default.
• W1979417095 hasConceptScore W1979417095C137916694 @default.
• W1979417095 hasConceptScore W1979417095C15744967 @default.
• W1979417095 hasConceptScore W1979417095C199360897 @default.
• W1979417095 hasConceptScore W1979417095C200544954 @default.
• W1979417095 hasConceptScore W1979417095C2776738285 @default.
• W1979417095 hasConceptScore W1979417095C2777910003 @default.
• W1979417095 hasConceptScore W1979417095C2779134260 @default.
• W1979417095 hasConceptScore W1979417095C2909352501 @default.
• W1979417095 hasConceptScore W1979417095C41008148 @default.
• W1979417095 hasConceptScore W1979417095C501734568 @default.
• W1979417095 hasConceptScore W1979417095C54355233 @default.
• W1979417095 hasConceptScore W1979417095C71924100 @default.
• W1979417095 hasConceptScore W1979417095C80227256 @default.
• W1979417095 hasConceptScore W1979417095C86803240 @default.
• W1979417095 hasConceptScore W1979417095C90559484 @default.
• W1979417095 hasConceptScore W1979417095C92811239 @default.
• W1979417095 hasIssue "4" @default.
• W1979417095 hasLocation W19794170951 @default.
• W1979417095 hasLocation W19794170952 @default.
• W1979417095 hasOpenAccess W1979417095 @default.
• W1979417095 hasPrimaryLocation W19794170951 @default.
• W1979417095 hasRelatedWork W1838339954 @default.
• W1979417095 hasRelatedWork W1979417095 @default.
• W1979417095 hasRelatedWork W2001606742 @default.
• W1979417095 hasRelatedWork W2011011958 @default.
• W1979417095 hasRelatedWork W2026289475 @default.
• W1979417095 hasRelatedWork W2049717280 @default.
• W1979417095 hasRelatedWork W2050051737 @default.
• W1979417095 hasRelatedWork W2334330884 @default.
• W1979417095 hasRelatedWork W2364100128 @default.
• W1979417095 hasRelatedWork W2771534113 @default.
• W1979417095 hasVolume "8" @default.
• W1979417095 isParatext "false" @default.
• W1979417095 isRetracted "false" @default.
• W1979417095 magId "1979417095" @default.
• W1979417095 workType "article" @default.