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Relevant bibliographies by topics / Variable penetrance

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Academic literature on the topic 'Variable penetrance'

Author: Grafiati

Published: 4 June 2021

Last updated: 7 February 2022

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Journal articles on the topic "Variable penetrance"

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Semsarian, Christopher, and Caitlin R. Semsarian. "Variable Penetrance in Hypertrophic Cardiomyopathy." Journal of the American College of Cardiology 76, no. 5 (2020): 560–62. http://dx.doi.org/10.1016/j.jacc.2020.06.023.

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Wu, Jiang I., Rashmi Rajendra, Julius C. Barsi, et al. "Targeted disruption ofMib2 causes exencephaly with a variable penetrance." genesis 45, no. 11 (2007): 722–27. http://dx.doi.org/10.1002/dvg.20349.

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Li, Jianping, Oanh T. Tran, T. Blaine Crowley, et al. "Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia." JAMA Psychiatry 78, no. 8 (2021): 911. http://dx.doi.org/10.1001/jamapsychiatry.2021.0762.

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Barros, José, Teresa Coelho, Luísa Lobato, and Alda Sousa. "Unusual phenotypic variability within the same family: Variable penetrance and variable clinical expression." Neuromuscular Disorders 6 (February 1996): S39. http://dx.doi.org/10.1016/0960-8966(96)88863-8.

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Aigner, L., G. Uyanik, S. Couillard-Despres, et al. "Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders." Neurology 60, no. 2 (2003): 329–32. http://dx.doi.org/10.1212/01.wnl.0000042091.90361.d2.

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Mandola, Amarilla B., and Nigel Sharfe. "Novel heterozygous NFKB1 mutation—variable penetrance in a family cohort." LymphoSign Journal 6, no. 3 (2019): 95–105. http://dx.doi.org/10.14785/lymphosign-2019-0010.

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Background: Common variable immunodeficiency (CVID) is a term used to define a heterogeneous group of patients who commonly have hypogammaglobulinemia and variable degrees of modest T cell dysfunction. Recent advances made in next generation sequencing technologies have accelerated the identification of CVID disease-causing genes, including NFKB1, a component of the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathway. Objective: We sought to identify the genetic defect in a 3-generation family of patients with CVID who presented with cytopenias, eczema, and recurrent

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Robinson, R. L., D. Carpenter, P. J. Halsall, et al. "Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility." British Journal of Anaesthesia 103, no. 2 (2009): 220–25. http://dx.doi.org/10.1093/bja/aep108.

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Ahluwalia, Jasmine K., Manoj Hariharan, Rhishikesh Bargaje, Beena Pillai, and Vani Brahmachari. "Incomplete penetrance and variable expressivity: is there a microRNA connection?" BioEssays 31, no. 9 (2009): 981–92. http://dx.doi.org/10.1002/bies.200900066.

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Parton, Matthew J., Peter M. Andersen, Wendy J. Broom, and Christopher E. Shaw. "Compound heterozygosity and variable penetrance inSOD1 amyotrophic lateral sclerosis pedigrees." Annals of Neurology 50, no. 4 (2001): 553. http://dx.doi.org/10.1002/ana.1151.

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RUVINSKY, A. O. "Inheritance of dominant genes with variable penetrance: An evolutionary aspect." Journal of Animal Breeding and Genetics 105, no. 1-6 (1988): 103–11. http://dx.doi.org/10.1111/j.1439-0388.1988.tb00279.x.

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Dissertations / Theses on the topic "Variable penetrance"

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Hoshi, Malcolm. "Unveiling Mechanisms Involved in Non-Traditional Cases of Inherited Cardiac Channelopathies." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1434188844.

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Chai, Shin Luen Chai. "Novel Genetic Modifiers in a Monogenic Cardiac Arrhythmia." Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1516618028568975.

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Greenwood, Celia Margaret Theodora. "Models for variable and age-dependent penetrances in genetic linkage analysis." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ35167.pdf.

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Books on the topic "Variable penetrance"

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Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Joz

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Greenwood, Celia M. T. Models for variable and age-dependent penetrances in genetic linkage analysis. 1998.

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Book chapters on the topic "Variable penetrance"

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Franca, M. M., AAL Jorge, LR Carvalho, GA Vasques, BB Mendonca, and IJP Arnhold. "Three NovelGLI2Mutations (L788fsX794, L694fsX732 and E380X) Presenting as Variable Penetrance of Pituitary Hormone Deficiencies without Holoprosencephaly." In The Endocrine Society's 92nd Annual Meeting, June 19–22, 2010 - San Diego. Endocrine Society, 2010. http://dx.doi.org/10.1210/endo-meetings.2010.part3.or2.or43-5.

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Mazzanti, Andrea, Riccardo Maragna, and Silvia G. Priori. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—long QT syndrome." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0149_update_001.

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Long QT syndrome(s) (LQTS) includes a group of inherited arrhythmogenic disorders characterized by a prolonged cardiac repolarization that predisposes to the development of life-threatening arrhythmias, typically in conditions of adrenergic activation (exercise, emotions). LQTS can show both autosomal dominant and autosomal recessive transmission with variable penetrance. Several genes have been causally linked to the disease phenotype, all coding for ion channel proteins and their regulatory partners that control cardiac action potentials duration. To date, 17 genes have been identified. Still, the first three genotypes discovered in the early nineties (LQT1, LQT2, and LQT3) account for the large majority of mutation-positive cases (approximately 80–90%). Genotype-negative LQTS subjects still represent an area of investigation: large duplications and deletions, undetectable to standard screening methodologies and, more recently, polygenic inheritance and the role of modifiers are emerging as possible players for (apparently) genotype-negative LQTSx1. Knowing the genotype of a LQTS patient can provide a relevant contribution for the clinical management by supporting the diagnostic process, the risk stratification, and the choice of therapy.

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Vallverdú-Prats, Marta, Mireia Alcalde, Georgia Sarquella-Brugada, et al. "Update on Genes Associated with Arrhythmogenic Cardiomyopathy." In Cardiomyopathy - Disease of the Heart Muscle [Working Title]. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.95332.

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Arrhythmogenic cardiomyopathy is a rare genetic entity characterized by progressive fibro-fatty replacement of myocardium leading to malignant arrhythmias, syncope, and sudden cardiac death. Mostly it affects the right ventricle, but cases have also been described with biventricular and even isolated left ventricular involvement. The disease affects mainly young males and arrhythmias are usually induced by exercise. Arrhythmogenic cardiomyopathy has a genetic origin and is basically caused by deleterious alterations in genes encoding desmosomal proteins, especially plakophilin-2. To date, more than 400 rare genetic alterations have been identified in 18 genes, mainly with autosomal dominant inheritance, but some recessive forms have also been reported (Naxos disease and Carvajal syndrome). A comprehensive genetic analysis identifies a rare variant as potential cause of the disease in around 60% of patients, suggesting the existence of unknown genes as well as other genome alterations not yet discovered. Genetic interpretation classifies some of these rare variants as ambiguous, playing an uncertain role in arrhythmogenic cardiomyopathy. This makes a proper translation of genetic data into clinical practice difficult. Moreover, incomplete penetrance and variable phenotypic expression makes it difficult to arrive at the correct diagnosis. In the present chapter, we focus on recent advances in the knowledge regarding the genetic basis of arrhythmogenic cardiomyopathy.

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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 times higher burden of rare variants in this gene compared to controls. Rare pathogenic variants have also been reported in several sodium, potassium, and calcium channel genes, pacemaker genes, and sodium channel interacting genes. Given the minor collective contribution of these additional BrS-associated genes to the total genetic diagnostic yield, the hypothesis has been raised that other (genetic) determinants are involved. Indeed, the monogenic nature of BrS has been questioned and more support has recently been gained for the hypothesis of a complex inheritance based on genome-wide and gene panel studies. Probably, the BrS inheritance pattern is a continuum ranging from a monogenic, over an oligogenic towards even a polygenic spectrum. This, however, further impedes the interpretation of the contribution of (likely) pathogenic variants to the phenotype and urges for a cautious policy in a prenatal and preimplantation genetic diagnostic context: in many cases disease prevention will imply a risk reduction instead of an elimination of disease (development).

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Conference papers on the topic "Variable penetrance"

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Majhi, Prabin Dhangada, Nicholas B. Griner, Shannon Compton, et al. "Abstract 1368: Variable penetrance of mammary tumors in mouse models of Li-Fraumeni syndrome is linked to replication-associated repair." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-1368.

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Flanagan, F., P. Agrawal, S. O. Vargas, B. A. Raby, M. P. Fishman, and M. Mullen. "Novel Intronic TBX4 Mutation Associated with Lung Disease, Pulmonary Arterial Hypertension and Skeletal Abnormalities with Variable Penetrance in a Single Family." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1981.

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Kanska, Justyna, Kruttika Dabke, Zachary Schwartz, Norma Rodriquez-Malave, Nikoo Safi, and Simon Gayther. "Abstract 1734: Crispr/Cas9 screening of Brca1 and Brca2 susceptibility genes in breast and ovarian cancer precursor cells can identify phenotypically different mutants with variable penetrance." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1734.

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Kanska, Justyna, Kruttika Dabke, Zachary Schwartz, Norma Rodriquez-Malave, Nikoo Safi, and Simon Gayther. "Abstract 1734: Crispr/Cas9 screening of Brca1 and Brca2 susceptibility genes in breast and ovarian cancer precursor cells can identify phenotypically different mutants with variable penetrance." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1734.

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Bounameaux, H., Ph de Moerloose, J. Vogel, G. Reber, B. Krahenbuhl, and C. Bouvier. "NORMAL PREGNANCY AND DELIVERY IN A PATIENT WITH SEVERE PROTEIN C DEFICIENCY AND PREVIOUS DEEP-VEIN THROMBOSIS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644312.

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Congenital protein C (PC) deficiency is associated with thrombophilia. Heterozygotes with about half-normal plasma PC levels may present with venous thromboembolic events usually beginning during adolescence or young adulthood. A 26-year-old swiss woman had experienced an iliofemoral deep-vein thrombosis without obvious etiology six years.ago. In June, 1986 very low levels of PC antigen (25 %) and activity (27 %) were found when she was six-month pregnant. Three other family members (62, 24 and 19-year-old) had PC levels around 50 % but were symptomfree. Because of the post-thrombotic~syndrome

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Sessions, John W., Brad W. Hanks, Tyler E. Lewis, Brian D. Jensen, Dallin L. Lindstrom, and Sandra H. Burnett. "Saline Solution Effects on Propidium Iodide Uptake in Nanoinjected HeLa Cells." In ASME 2014 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/detc2014-35431.

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Being able to deliver molecular loads to the intracellular space of mammalian cells is a key initial step of genetic engineering. In the following work, experimentation with nanoinjection, a non-viral molecular load delivery technique, was examined in regards to transmembrane delivery of propidium iodide (PI), a dye that cannot penetrate the cell membrane and fluoresces when bound to genetic material. Investigation includes two environmental factors: peak pulse amplitude (1.5 to 3, 5, 7, or 9 V) and saline type (HBSS, PBS with potassium, and PBS without potassium). Results indicate that PBS wi

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Kratzberg, Jarin A., William Barnhart, Jafar Golzarian, and Madhavan L. Raghavan. "The Effect of Aortic Endovascular Graft Oversizing on Barb Penetration and Fixation Strength." In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-192928.

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Endovascular repair of abdominal aortic aneurysm (AAA), where an endovascular graft (EVG) — a stented vascular graft — is implanted intraluminally into the AAA has shown excellent short term outcome. However, long term outcome of implanted EVGs is fraught with new complications, the most severe of which is endoleak from graft migration, which can lead to re-pressurization of the AAA and potentially rupture. Graft migration is defined as the distal drift of an implanted EVG of 5mm or more from its initial anchor site (Figure 1). There have been many design changes to help decrease the rate of E

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Dahlstro¨m, Stefan, and Lars Lindkvist. "Contact Modelling in Method of Influence Coefficient for Variation Simulation of Sheet Metal Assemblies." In ASME 2004 International Mechanical Engineering Congress and Exposition. ASMEDC, 2004. http://dx.doi.org/10.1115/imece2004-61550.

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Sheet metal assembly is a common manufacturing process for several products such as automobiles and airplanes. Since all manufacturing processes are affected by variation and products need to have a high geometric quality, geometry related production problems must be analyzed during early design phases. Often, the analysis is done by using FEA (Finite Element Analysis) to include the compliant behavior of the parts. There are many variables that affect the geometric quality and to include many of them in a FEA simulation is often very time-consuming. One way of performing the simulations relat

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Al-Badour, Fadi, Abdulrahman Alghamdi, Akeem Y. Adesina, Rami K. Suleiman, and Neçar Merah. "Friction Stir Diffusion Bonding of Magnesium Alloy ZK 60 to Steel." In ASME 2021 16th International Manufacturing Science and Engineering Conference. American Society of Mechanical Engineers, 2021. http://dx.doi.org/10.1115/msec2021-60179.

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Abstract Friction stir diffusion bonding (FSDB); a derived process from friction stir lap welding, was used in this investigation to produce a solid-state lap joint between magnesium alloy ZK 60-T5 and steel ASTM A 516-70. In FSDB, a conventional friction stir welding tool was used where the tool pin did not penetrate the substrate. The developed heat due to friction and forging forces exerted by the tool facilitated the diffusion process between the lapped sheets. In this work, the effects of process conditions on fabricated joints strength and microstructural changes were studied. The design

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Green, D., R. D. Smith, J. P. Taggart, D. Beardsmore, and S. Robinson. "Fatigue Crack Initiation and Growth in Stainless Steel Pipe Welds." In ASME 2009 Pressure Vessels and Piping Conference. ASMEDC, 2009. http://dx.doi.org/10.1115/pvp2009-77986.

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Thermal fatigue cracks have been found in austenitic pipe work in many pressurised water reactors, caused by thermal cycling due to the passage of water at different temperatures along the pipe inner surface. The rates of crack initiation and growth for this situation are not well understood because of the stochastic nature of the temperature fluctuations. Therefore, large allowances must be made when assessing the integrity of this pipe work to this failure mechanism. Improved assessment of crack initiation and growth could enable increased plant availability, and better safety cases. A progr

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