Relevant bibliographies by topics / Incomplete penetrance

Academic literature on the topic 'Incomplete penetrance'

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Published: 4 June 2021
Last updated: 20 February 2023

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Journal articles on the topic "Incomplete penetrance"

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Seymen, F., K. E. Lee, M. Koruyucu, K. Gencay, M. Bayram, E. B. Tuna, Z. H. Lee, and J. W. Kim. "ENAM Mutations with Incomplete Penetrance." Journal of Dental Research 93, no. 10 (August 20, 2014): 988–92. http://dx.doi.org/10.1177/0022034514548222.

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Otto, P. A., O. Frota-Pessoa, and S. P. Polcan. "Snyder's Ratios With Incomplete Penetrance." Journal of Heredity 85, no. 4 (July 1994): 331–35. http://dx.doi.org/10.1093/oxfordjournals.jhered.a111473.

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Shieh, Joseph T. C. "Genomic Sequencing Expansion and Incomplete Penetrance." Pediatrics 143, Supplement 1 (January 2019): S22—S26. http://dx.doi.org/10.1542/peds.2018-1099e.

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Caporali, Leonardo, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, and Valerio Carelli. "Incomplete penetrance in mitochondrial optic neuropathies." Mitochondrion 36 (September 2017): 130–37. http://dx.doi.org/10.1016/j.mito.2017.07.004.

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Plaisancié, Julie, Dominique Brémond-Gignac, Bénédicte Demeer, Véronique Gaston, Alain Verloes, Lucas Fares-Taie, Sylvie Gerber, Jean-Michel Rozet, Patrick Calvas, and Nicolas Chassaing. "Incomplete penetrance of biallelic ALDH1A3 mutations." European Journal of Medical Genetics 59, no. 4 (April 2016): 215–18. http://dx.doi.org/10.1016/j.ejmg.2016.02.004.

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Liu, Aijie, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, et al. "Mosaicism and incomplete penetrance of PCDH19 mutations." Journal of Medical Genetics 56, no. 2 (October 4, 2018): 81–88. http://dx.doi.org/10.1136/jmedgenet-2017-105235.

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BackgroundMutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.ObjectiveWe aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19-related epilepsy.MethodsTwo male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing. Forty female patients with PCDH19 variants were identified by Sanger sequencing and Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used to quantify the mutant allelic fractions (MAFs) in 20 families with PCDH19 variants.ResultsFive mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred PCDH19 variant identified by Sanger sequencing and MLPA, Sanger sequencing revealed two mosaic fathers (9%, 2/22), one with two affected daughters and the other with an affected child. Two asymptomatic mosaic fathers were confirmed as gonosomal mosaicism, with MAFs ranging from 4.16% to 37.38% and from 1.27% to 19.13%, respectively. In 11 families with apparent de novo variants, 1 female patient was identified as a mosaic with a blood MAF of 26.72%.ConclusionOur study provides new insights into phenotype-genotype correlations in PCDH19 related epilepsy and the finding of high-frequency mosaicism has important implications for genetic counselling.
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Raj, Arjun, Scott A. Rifkin, Erik Andersen, and Alexander van Oudenaarden. "Variability in gene expression underlies incomplete penetrance." Nature 463, no. 7283 (February 2010): 913–18. http://dx.doi.org/10.1038/nature08781.

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Todarello, Giovanna, Ningping Feng, Bhaskar S. Kolachana, Chao Li, Radhakrishna Vakkalanka, Alessandro Bertolino, Daniel R. Weinberger, and Richard E. Straub. "Incomplete penetrance of NRXN1 deletions in families with schizophrenia." Schizophrenia Research 155, no. 1-3 (May 2014): 1–7. http://dx.doi.org/10.1016/j.schres.2014.02.023.

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Legeai-Mallet, Laurence, Arnold Munnich, Pierre Maroteaux, and Martine Le Merrer. "Incomplete penetrance and expressivity skewing in hereditary multiple exostoses." Clinical Genetics 52, no. 1 (June 28, 2008): 12–16. http://dx.doi.org/10.1111/j.1399-0004.1997.tb02508.x.

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Fanin, Marina, Enrico Peterle, Chiara Fritegotto, Anna C. Nascimbeni, Elisabetta Tasca, Annalaura Torella, Vincenzo Nigro, and Corrado Angelini. "Incomplete penetrance in limb-girdle muscular dystrophy type 1F." Muscle & Nerve 52, no. 2 (June 7, 2015): 305–6. http://dx.doi.org/10.1002/mus.24539.

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Dissertations / Theses on the topic "Incomplete penetrance"

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Burga, Ramos Alejandro Raúl 1985. "The Consequences of stochastic gene expression in the nematode Caenorhabditis elegans." Doctoral thesis, Universitat Pompeu Fabra, 2012. http://hdl.handle.net/10803/104484.

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Genetically identical cells and organisms growing in homogenous environmental conditions can show significant phenotypic variation. Furthermore, mutations often have consequences that vary among individuals (incomplete penetrance). Biochemical processes such as those involved in gene expression are subjected to fluctuations due to their inherent probabilistic nature. However, it is not clear how these fluctuations affect multicellular organisms carrying mutations and if stochastic variation in gene expression among individuals could confer any advantage to populations. We have investigated the consequences of stochastic gene expression using the nematode Caenorhabditis elegans as a model. Here we show that inter-individual stochastic variation in the induction of both specific and more general buffering systems combine to determine the outcome of inherited mutations in each individual. Also, we demonstrate that genetic and environmental robustness are coupled in C. elegans. Individuals with higher induction of stress response are more robust to the effect of mutations, however they incur a fitness cost, thus suggesting that variation at the population level could be beneficial in unpredictable environments.
Células y organismos genéticamente idénticos y creciendo en un ambiente homogéneo pueden mostrar diferencias en sus fenotipos. Además, una misma mutación puede afectar de un modo distinto a individuos de una misma población. Es sabido que los procesos bioquímicos responsables de la expresión de genes están sujetos a fluctuaciones debido a su inherentemente naturaleza probabilística. Sin embargo, el rol que juegan estas fluctuaciones en individuos portadores de mutaciones ha sido poco estudiado, así cómo si la expresión estocástica de genes puede conferir alguna ventaja al nivel poblacional. Para investigar las consecuencias de la expresión estocástica de genes usamos como modelo al nemátodo Caenorhabditis elegans. En este trabajo demostramos que existe variación entre individuos en la inducción de mecanismos (tanto gen-específicos como globales) que confieren robustez al desarrollo. En consecuencia, diferencias fenotípicas entre mutantes están determinadas por su variación. También, demostramos que la robustez a perturbaciones genéticos y ambientales están estrechamente ligadas en C. elegans. Individuos que inducen estocásticamente una mayor respuesta a stress, están fenotípicamente mejor protegidos al efecto de mutaciones pero incurren en un costo reproductivo importante. Eso sugiere, que variaciones estocásticas al nivel poblacional pueden ser benéficas cuando las poblaciones afrontan ambientes impredecibles.
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Shinlapawittayatorn, Krekwit. "Modulations of Sodium Channel Long QT and Brugada Syndrome Mutations by a Common Sodium Channel Polymorphism." Case Western Reserve University School of Graduate Studies / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=case1315329659.

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Saliou, Philippe. "Hémochromatose HFE : influence de facteurs génétiques et non génétiques sur l'expression phénotypique." Thesis, Brest, 2014. http://www.theses.fr/2014BRES0101/document.

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L’hémochromatose HFE est une maladie du métabolisme du fer liée au gène HFE dont la principale mutation est C282Y. L’objectif général de ce travail était d’étudier l’influence de facteurs génétiques et non génétiques sur l’expression phénotypique de patients atteints d’hémochromatose HFE. Cette étude prospective incluait les patients C282Y/C282Y etC282Y/H63D inclus en protocole de saignées entre janvier 2004 et décembre 2011 au centre de santé brestois de l’EFS-Bretagne. Dans un premier temps, nous avons étudié l’influence du génotype C282Y/H63D sur la survenue d’une surcharge en fer. Nous avons confirmé que le variant H63D doit être considéré comme un facteur de susceptibilité dont l’expression est liée à la présence de co-facteurs responsables d’une hyper ferritinémie. Ensuite, nous avons étudié le rôle des grossesses et de l’alimentation sur l’expression phénotypique du génotype C282Yhomozygote. Nous avons montré qu’il existe bien une différence d’expressivité clinique liée au sexe chez les patients C282Y/C282Y. Cependant, nos données n’ont pas confirmé l’effet protecteur typiquement attribué aux grossesses pour expliquer la plus lente accumulation de fer chez les femmes. Cette étude a également mis en évidence une association modérée entre la consommation d’aliments riches en fer et le degré de surcharge en fer des patients C282Yhomozygotes traités par phlébotomies. Ce travail contribue à mieux comprendre l’hétérogénéité phénotypique observée dans l’hémochromatose HFE. La finalité est de pouvoir repérer précocement les sujets les plus à risque de développer les surcharges en fer les plus sévères et par conséquent des complications cliniques
HFE hemochromatosis is a disorder of iron metabolism related to the HFE gene whose mainmutation is C282Y. The overall aim of this study was to investigate the influence of genetic and non genetic factors on phenotypic expression of patients with HFE hemochromatosis. This prospective study included the C282Y/C282Y and C282Y/H63D patients enrolled in a phlebotomy program between 2004 and 2011 in a blood centre of western Brittany (Brest, France). First, weassessed the weight of the C282Y/H63D genotype in the occurrence of iron overload. We confirmed that H63D is a discrete genetic susceptibility factor whose expression is most visible in association with other co-factors responsible for hyper ferritinemia. Then we investigated the effect of pregnancies and iron-rich diet on phenotypic expressivity of the C282Y/C282Y genotype. We have shown that there is a difference in clinical expression related to gender in C282Y/C282Ypatients. However our findings did not confirm that pregnancies protect against iron accumulationin women. This study established a moderate link between dietary iron intake and the degree of iron overload in HFE hemochromatosis patients who come to medical attention. This work contributes to a better understanding of the phenotypic heterogeneity observed in HFE hemochromatosis. The purpose is to identify precociously subjects the most at risk of developing iron overload and therefore clinical complications
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Stewart, Heather G. "Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features." Doctoral thesis, Umeå : Dept. of Pharmacology and Clinical Neurosciences, Umeå University, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-638.

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Gopinath, Sumana. "Finding new genes causing motor neuron diseases." University of Sydney, 2006. http://hdl.handle.net/2123/1624.

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Doctor of Philosophy
Abstract Neurodegenerative disorders are a diverse group of disorders that affect specific subsets of neurons. Motor neuron diseases, neurodegenerative disorders of motor neurons, are seen commonly as sporadic cases and less frequently as familial disease forms. The familial forms show genetic and phenotypic heterogeneity. Clinically motor neuron diseases may be seen as rapidly progressive disorders like amyotrophic lateral sclerosis, ALS or slowly progressive disorders like hereditary motor neuropathies, HMN. The only proven causes for motor neuron diseases are gene mutations that lead to motor neuron degeneration in familial disease forms. Only some of these genes have been identified and have contributed greatly to our understanding of the neurobiology of familial and sporadic disease forms. Identification of additional disease causing genes would help enhance our knowledge of the pathophysiological mechanisms underlying all forms of motor neuron disorders, which would lead to early diagnoses, effective prophylaxis and efficient therapies for these disorders. This study aimed to find gene mutations that cause rapid and slowly progressive familial motor neuron disorders in Australian families and to determine their relevance to sporadic forms of motor neuron disease. The familial forms of ALS show reduced disease penetrance, that is, not all gene mutation carriers manifest the disease. This study examines ALS penetrance in a group of Australian families. The most frequently observed mutations in ALS families are cytosolic superoxide dismutase/SOD1 gene mutations. In a collection of ALS families in our centre, families without the common SOD1 gene mutations were genotyped for other ALS genes and loci and studied using genetic linkage and haplotype analyses. Studies in a large Australian ALS family further confirmed genetic heterogeneity in non-SOD familial ALS, all known autosomal dominant ALS genes and chromosomal loci were excluded as cause of disease in this family. Such families can be studied further to identify additional disease genes and loci mapped in other ALS families. These families represent powerful resources for identification of additional ALS genes. Identifying the pathogenic genes in families with reduced disease penetrance may be more relevant to sporadic forms of disease. dHMN is a chronic neurodegenerative disorder predominantly affecting motor neurons. In a large Australian dHMN family, all the known dHMN genes and chromosomal loci were excluded as cause of disease. A genome wide microsatellite screen was performed in this family and genetic linkage was established to a novel 12.98 Mb locus on chromosome 7q34.2-q36. Candidate genes in this large interval will be screened based on their function and expression profile. Identification of a new dHMN locus provides the basis for future identification of a novel gene involved in motor neuron degeneration. Genes in dHMN have been shown to be pathogenic in ALS and Charcot Marie Tooth syndromes. The new locus for dHMN mapped in this project would lead to identification of a novel dHMN gene, which may elucidate the pathogenesis underlying a wide range of neurodegenerative disorders.
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Kerner, Gaspard. "Recherche de mutations pathogéniques par analyses d'exomes de larges échantillons de patients : application à la tuberculose." Thesis, Université de Paris (2019-....), 2020. http://www.theses.fr/2020UNIP7069.

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Le cadre général de mon projet se situe dans la recherche de gènes contribuant à la prédisposition ou à la résistance à la tuberculose en se servant des exomes non seulement de patients tuberculeux mais aussi de ceux de patients MSMD. Il s’agit en particulier de comprendre pourquoi, lorsque des individus sont infectés par M. tuberculosis, certains (~10%) vont développer la maladie clinique (qui peut être plus ou moins sévère) alors que d’autres (~90%) ne présentent aucune symptomatologie (infection latente). Nous décrivons dans cette thèse la découverte d’une nouvelle étiologie génétique du MSMD au sein du gène IFNG, gouvernant le seul axe immunologique de défense anti-mycobactérienne connu. Nous rapportons aussi la première étiologie monogénique relativement commune de la tuberculose. Cette découverte est un des premiers exemples faisant le lien entre étiologies monogéniques à effets forts et variants communs obtenus par analyses GWAS. Compte tenu de l’histoire de la tuberculose, ce variant aurait pu être responsable à lui tout seul de la mort de 10 millions d’individus au cours des 2,000 dernières années. Finalement, nous étendons l’horizon d’étude de la tuberculose par la recherche d’étiologies digéniques à partir du développement d’une nouvelle méthode statistique. Elle est appropriée à l’étude de maladies dites monogéniques qui ne sont pourtant pas complètement expliquées par une seule lésion monogénique. La robustesse et la puissance de cette approche à identifier des interactions entre deux régions génétiques indépendantes ont été démontrées et réalisées tant sur des données simulées comme sur des données réelles (craniosynostose)
The thesis aimed at finding new genetic etiologies of tuberculosis disease using whole exome sequencing data of tuberculosis patients as well as MSMD patients. Since the beginning of the XXth century researchers have tried to understand why infected individuals would (~10%) in some cases develop diseases while others (~90%) would remain asymptomatic. We herein describe the first genetic etiology of MSMD in the IFNG gene, the core gene controlling host’s immune systeme against mycobacterial infections. We also describe the first common monogenic etiology of tuberculosis in the TYK2 gene, bridging the gap between monogenic variants with strong effect and more common variants obtained with GWAS. Looking back at the history of TB, it would be estimated that about 10 million people died due to this one TYK2 mutation. We finally expanded the study of the genetics of tuberculosis by developing a new methodology to study digenic effects on disease susceptibility. It is in particular appropriate to the study of so far assumed monogenic diseases that are not fully explained by a monogenic lesion. Robustness and power of this approach to find interaction between independent genomic regions were shown in both extensive simulated data and real exome data (craniosynostosis)
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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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Villoutreix, Paul. "Aléatoire et variabilité dans l’embryogenèse animale, une approche multi-échelle." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015PA05T016/document.

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Nous proposons dans cette thèse de caractériser quantitativement la variabilité à différentes échelles au cours de l'embryogenèse. Pour ce faire, nous utilisons une combinaison de modèles mathématiques et de résultats expérimentaux. Dans la première partie, nous utilisons une petite cohorte d'oursins digitaux pour construire une représentation prototypique du lignage cellulaire, reliant les caractéristiques des cellules individuelles avec les dynamiques à l'échelle de l'embryon tout entier. Ce modèle probabiliste multi-niveau et empirique repose sur les symétries des embryons et sur les identités cellulaires; cela permet d'identifier un niveau de granularité générique pour observer les distributions de caractéristiques cellulaires individuelles. Le prototype est défini comme le barycentre de la cohorte dans la variété statistique correspondante. Parmi plusieurs résultats, nous montrons que la variabilité intra-individuelle est impliquée dans la reproductibilité du développement embryonnaire. Dans la seconde partie, nous considérons les mécanismes sources de variabilité au cours du développement et leurs relations à l'évolution. En nous appuyant sur des résultats expérimentaux montrant une pénétrance incomplète et une expressivité variable de phénotype dans une lignée mutante du poisson zèbre, nous proposons une clarification des différents niveaux de variabilité biologique reposant sur une analogie formelle avec le cadre mathématique de la mécanique quantique. Nous trouvons notamment une analogie formelle entre l'intrication quantique et le schéma Mendélien de transmission héréditaire. Dans la troisième partie, nous étudions l'organisation biologique et ses relations aux trajectoires développementales. En adaptant les outils de la topologie algébrique, nous caractérisons des invariants du réseaux de contacts cellulaires extrait d'images de microscopie confocale d'épithéliums de différentes espèces et de différents fonds génétiques. En particulier, nous montrons l'influence des histoires individuelles sur la distribution spatiales des cellules dans un tissu épithélial
We propose in this thesis to characterize variability quantitatively at various scales during embryogenesis. We use a combination of mathematical models and experimental results. In the first part, we use a small cohort of digital sea urchin embryos to construct a prototypical representation of the cell lineage, which relates individual cell features with embryo-level dynamics. This multi-level data-driven probabilistic model relies on symmetries of the embryo and known cell types, which provide a generic coarse-grained level of observation for distributions of individual cell features. The prototype is defined as the centroid of the cohort in the corresponding statistical manifold. Among several results, we show that intra-individual variability is involved in the reproducibility of the developmental process. In the second part, we consider the mechanisms sources of variability during development and their relations to evolution. Building on experimental results showing variable phenotypic expression and incomplete penetrance in a zebrafish mutant line, we propose a clarification of the various levels of biological variability using a formal analogy with quantum mechanics mathematical framework. Surprisingly, we find a formal analogy between quantum entanglement and Mendel’s idealized scheme of inheritance. In the third part, we study biological organization and its relations to developmental paths. By adapting the tools of algebraic topology, we compute invariants of the network of cellular contacts extracted from confocal microscopy images of epithelia from different species and genetic backgrounds. In particular, we show the influence of individual histories on the spatial distribution of cells in epithelial tissues
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Phillips, Wenona Anne. "Embryonic chick edema : inheritance and an explanation for incomplete penetrance." Thesis, 2003. http://hdl.handle.net/1957/31600.

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The concept of genetic penetrance, "the frequency of manifestation of a genetic factor," was introduced by Timofeef-Ressovsky (Naturwissenschaften 19:493,1931). Incomplete penetrance has been used to explain the absence of phenotypic expression when otherwise anticipated. Studies of Embryonic Chick Edema, ECE (Poultry Sci. 77(suppl. 1):69, 1998) have been conducted in order to determine the origins for incomplete penetrance of this disorder. ECE was originally reported as the expression of two autosomal recessive loci with incomplete penetrance. Pedigreed inter se mating of ECE individuals have resulted in familial incidences ranging for 0 to 100% with a mean of 48.2% in the most recent generation selected. With consideration of a third contributing locus, current data and 2 sets of previous data were evaluated. Heterogeneity and pooled chi square tests when applied to the data sets support the hypothesis that ECE was the result of two completely dominant loci and one homozygous recessive locus.
Graduation date: 2004
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Murdoch-Kinch, Carol Anne. "Cephalometric analysis of families with dominantly inherited Crouzon syndrome a genotype/phenotype correlation study to establish and redefine the concept of incomplete penetrance /." 1996. http://catalog.hathitrust.org/api/volumes/oclc/48072875.html.

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Books on the topic "Incomplete penetrance"

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Deegan, Patrick. Porphyria. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0179.

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This chapter discusses six diseases caused by inborn errors of metabolism affecting the biosynthesis of haem. Haem is a tetracyclic metal-binding compound involved in oxygen transport (in haemoglobin and myoglobin) and redox reactions (e.g. in the cytochrome P450 system). Each of these conditions is caused by a single gene defect in one of the enzymes involved in the biosynthesis of haem. Inheritance is usually autosomal dominant with incomplete penetrance. The enzyme defect results in disease, not as a result of deficiency of the reaction product, but as a result of accumulation of precursors. Early, soluble precursors, 5-aminolaevulinic acid, and porphobilinogen (not porphyrins as such) are neurotoxic and, when present in great excess, as occurs when flux through the haem synthetic pathway is increased in response to particular medications or hormones, lead to acute neurovisceral crises. Later cyclical precursors (porphyrins) in the pathway are also water soluble and excreted in urine, but are susceptible to activation by electromagnetic radiation in the visible spectrum and are converted to free-radical metabolites that cause pain, inflammation, and tissue damage in the skin. The final haem precursors (also porphyrins) are hydrophobic and excreted in the bile and faeces and are also activated by light to toxic metabolites.
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Rucker, James J. H., and Peter McGuffin. Copy Number Variation in Neuropsychiatric Disorders. Edited by Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.005.

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It has long been known that the human genome is subject to deletion and duplication of genetic material by various molecular mechanisms. Until recently, such events were assumed to be relatively rare phenomena. It is now known that submicroscopic deletions or duplications calledcopy number variants(CNVs) are a major source of genomic variation. Rare CNVs (defined as occurring in less than 1 percent of the population) have been implicated in schizophrenia and autism. Measured in terms of odds ratios, individual CNVs have been shown to have large effects, some increasing the risk of disorder several-fold. But they are incompletely penetrant, no one CNV is either necessary or sufficient to cause the disorder. The findings are less clear-cut with bipolar disorder but, here, too, rare CNVs probably play a role. In unipolar depression, initial evidence suggests an overall increase in rare CNVs that disrupt exons, the coding regions of genes.
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Book chapters on the topic "Incomplete penetrance"

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Marchant, Ali, and Kristine O. Evans. "Incomplete Penetrance." In Encyclopedia of Animal Cognition and Behavior, 1–2. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-47829-6_373-1.

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Marchant, Ali, and Kristine O. Evans. "Incomplete Penetrance." In Encyclopedia of Animal Cognition and Behavior, 3393–94. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_373.

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Eyries, Mélanie, Barbara Girerd, David Montani, David-Alexandre Tregouët, Marc Humbert, and Florent Soubrier. "Pulmonary hypertension genes as major diagnostic tools." In ESC CardioMed, edited by Marc Humbert, 2490–93. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0577.

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A few genes have been shown to be major predisposing factors for pulmonary hypertension and are responsible for heritable forms of the disease. However, for nearly all genes described, not all mutation carriers develop the disease (autosomal transmission with incomplete penetrance) explaining the presence of genetic mutations in apparently sporadic cases. Beside mutations in major genes (BMPR2 for pulmonary arterial hypertension and EIF2AK4 for recessive heritable pulmonary veno-occlusive disease), other genes have been involved in a very limited number of cases (KCNK3, CAV1, and Smad8). Gene mutations are also been found as part of syndromic diseases (ACVRL1 mutations in hereditary haemorrhagic telangiectasia and TBX4 in small patella syndrome).
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Martínez-Barrios, Estefanía, José Cruzalegui, Sergi Cesar, Fredy Chipa, Elena Arbelo, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada, and Oscar Campuzano. "Short QT Syndrome: Update on Genetic Basis." In Rare Diseases - Recent Advances [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.106808.

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Short QT syndrome (SQTS) is an extremely rare inherited arrhythmogenic entity. Nowadays, less than 200 families affected worldwide have been reported. This syndrome is characterized by the presence of a short QT interval leading to malignant ventricular tachyarrhythmias, syncope and sudden cardiac death. It is one of the most lethal heart diseases in children and young adults. Both incomplete penetrance and variable expressivity are hallmarks of this entity, making it difficult to diagnose and manage. Currently, rare variants in nine genes have been associated with SQTS (CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5, SLC4A3 and SCN5A). However, only pathogenic variants in four genes (KCNH2, KCNQ1, KCNJ2 and SLC4A3) have been found to definitively cause SQTS. The remaining genes lack a clear association with the disease, making clinical interpretation of the variants challenging. The diagnostic yield of genetic tests is currently less than 30%, leaving most families clinically diagnosed with SQTS without a conclusive genetic diagnosis. We reviewed and updated the main genetic features of SQTS, as well as recent evidence on increasingly targeted treatment.
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Vallverdú-Prats, Marta, Mireia Alcalde, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Josep Brugada, Ramon Brugada, and Oscar Campuzano. "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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Barge-Schaapveld, Daniela Q. C. M., Marco C. DeRuiter, Conny C. van Munsteren, and Monique R. M. Jongbloed. "Structural diseases of the heart: genetics of congenital heart diseases." In ESC CardioMed, 716–19. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0161.

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Congenital heart defects are the most common congenital defects. As a substantial number of patients with congenital heart disease (CHD) now reach reproductive age, the cardiologist dealing with grown-up patients with CHD is confronted with questions from patients regarding the impact of their CHD on pregnancy and offspring, and genetic counselling is becoming more relevant to clinical practice. Developments in the field of clinical genetics do not always facilitate clinicians’ knowledge and reasoning. Interpretation of the often large DNA datasets is challenging, especially in the light of phenotypic heterogeneity and incomplete penetrance, and requires specific expertise. In this chapter, the genetics of CHD are addressed. An overview of ‘causative’ genes is provided, that is, genes with a high likelihood to be involved in the development of human CHD and found so far to harbour (likely) pathogenic mutations in patients. In addition, the challenges and limitations in determining such genes are addressed and pitfalls in interpreting DNA variants in these genes discussed. The fact that single genes may in some instances be associated with different forms of CHD, may be explained by the broad range of cellular contributions during embryology, which will be briefly addressed. Finally, practical recommendations in addressing the genetics of CHD are provided.
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Barge-Schaapveld, Daniela Q. C. M., Marco C. DeRuiter, Conny C. van Munsteren, and Monique R. M. Jongbloed. "Genetics of CV diseases." In ESC CardioMed, 716–19. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0161_update_001.

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Congenital heart defects (CHD) are the most common congenital defects. As a substantial number of patients with CHD now reach the reproductive age, the cardiologist dealing with grown up patients with CHD is confronted with questions of patients regarding impact of their CHD on pregnancy and offspring, and genetic counselling is becoming more relevant to clinical practice. Developments in the field of clinical genetics do not always facilitate the clinicians' knowledge and reasoning. Interpretation of the often-large DNA datasets is challenging, especially in the light of phenotypic heterogeneity and incomplete penetrance, and requires specific expertise. In this chapter the genetics of CHD are addressed. An overview of 'causative' genes is provided, i.e. genes with a high likelihood to be involved in the development of human CHD and found so far to harbour (likely) pathogenic mutations in patients. In addition, the challenges and limitations in determining such genes are addressed and pitfalls in interpreting DNA variants in these genes discussed. The fact that single genes may in some instances be associated with different forms of CHD, may be explained by the broad range of cellular contribution during embryology, which will be briefly addressed. Finally, practical recommendations in addressing the genetics of CHD are provided.
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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, 679–82. 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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Eickelmann, Nancy. "A Comparative Analysis of the Balanced Scorecard as Applied in Government and Industry Organizations." In Information Technology Evaluation Methods and Management, 253–68. IGI Global, 2001. http://dx.doi.org/10.4018/978-1-878289-90-2.ch017.

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Organizations have become increasingly dependent on information technologies to conduct daily operations, achieve competitive advantage and to create and penetrate new markets. This dependence has come at a high price, in 1990 U.S. companies spent over $154 billion on information technologies. However, organizations have found it difficult to measure the value added from these investments. Survey results found four significant barriers to measuring financial performance related to information technologies including: • Difficulty of measuring economic benefits • Inability to determine returns • Lack of good metrics • Incomplete records/accounting of investments The Balanced Scorecard framework provides part of the structure required to overcome these barriers. How organizations can overcome these barriers and successfully measure performance with respect to achieving strategic plans is the focus of this chapter. This chapter provides a comparison of results of two case studies regarding the use of the Balanced Scorecard measurement framework. The application of the Balanced Scorecard (BSC) is evaluated for a Fortune 500 information technology organization and a government organization. Both organizations have a business focus of software development. The BSC framework is applied and reviewed in both contexts to provide insight into unique organizational characteristics for government and contract software environments. A specific focus is to inform the use of financial measures such as Return On Investment (ROI) in the government context. The BSC framework provides the necessary structure to evaluate quantitative and qualitative information and identify the critical linkages between financial measures of past performance and key measures of future performance.
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Conference papers on the topic "Incomplete penetrance"

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Ziora-Jakutowicz, Karolina, Iwona Stepniak, Grzegorz Witkowski, Anna Sulek, Ewelina Elert-Dobkowska, and Wioletta Krysa. "F69 Difficulties in interpreting the results of genetic tests in a patient with huntington`s disease and spinocerebellar ataxia type 17 due to CAG/CAA expansion with incomplete mutation penetrance- case report." In EHDN 2022 Plenary Meeting, Bologna, Italy, Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jnnp-2022-ehdn.160.

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Morales-Porras, Andres E., Markus E. Testorf, Robert V. McGahan, and Michael A. Fiddy. "Numerical considerations when imaging penetrable highly scattering objects from incomplete data." In International Symposium on Optical Science and Technology, edited by Michael A. Fiddy and Rick P. Millane. SPIE, 2000. http://dx.doi.org/10.1117/12.409271.

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Wang, Lixin, and Kevin A. Janes. "Abstract 293: Heterogeneous nucleocytoplasmic regulation of an incompletely penetrant ErbB2 onco-phenotype." 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.am2018-293.

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Choi, Woong-Sik, Jaecheol Kim, Yedidia Neumeier, and Jeff Jagoda. "Preliminary Study of a Low Power Plasma Radical Jet Generator for Combustion Systems." In ASME Turbo Expo 2006: Power for Land, Sea, and Air. ASMEDC, 2006. http://dx.doi.org/10.1115/gt2006-91254.

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A novel radical jet generator (RJG) was developed, whose purpose it is to supply concentrated, relatively low temperature radicals that penetrate into a flammable stream of reactants and trigger or modify a combustion process. The RJG is driven by a plasma whose power is only a fraction of a percent of the total power released in the combustor. In this approach, the plasma induces an incomplete combustion process in a small duct carrying a rich mixture of fuel and air. Results obtained using the developed RJG show that a jet, which consists of partially burnt reactants, some products and is, apparently, rich in radicals produced by the incomplete combustion process triggers extremely steady combustion in a fast moving combustible mixture whose flow rate far exceeds that of the RJG. Importantly, the results show that the jet, rich with radicals, that emerges from the RJG cavity at a temperature well below traditional ignition can ignite a fast moving stream of combustible mixture. Moreover, when injected normal to the main flow, this jet ignites the main stream at a location relatively far from the entrance point of the jet. This makes it possible to keep the combustion process away from solid walls while at the same time eliminating the need for solid flame holders. This in turn, provides an augmenter with reduced I.R signature. Finally, the results show a drastic effect of the RJG upon the flame dynamics in general and combustion instabilities in particular. Flames which displayed large, periodic pressure oscillations became completely stable when the plasma in the RJG was turned on. This suggests a novel use of the RJG to inhibit instabilities in combustors.
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Viana, Rayane Larissa de Melo, Maíza Radely Pereira Ferreira, and José Luiz Gustavo De Melo Viana. "ABORDAGENS TERAPÊUTICAS NO TRATAMENTO DE TUNGÍASE: UMA REVISÃO DE LITERATURA." In I Congresso Brasileiro de Doenças Infectocontagiosas On-line. Revista Multidisciplinar em Saúde, 2021. http://dx.doi.org/10.51161/rems/2142.

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Introdução: A tungíase é uma doença infecciosa causada por uma pulga ectoparasita da ordem Siphonatera, gênero Tunga e pela espécie penetrans, podendo atingir humanos e animais, sendo endêmica na América Latina, África, Índia, Caribe e tendo seu período de proliferação durante estação quente e seca. Essa patologia constitui um problema de saúde pública visto que ocorre com frequência em países em desenvolvimento, especialmente naqueles em que populações marginalizadas não tem acesso a condições de saneamento básico e saúde. Objetivos: realizar uma revisão de literatura acerca das abordagens terapêuticas utilizadas no tratamento de tungíase. Metodologia: foi realizado uma busca, em outubro de 2020, utilizando-se base de dados como PubMed, Cochrany Library e Lilacs, sintaxe com os seguintes descritores: tungiasis, tunga, drug therapy, treatment, plant oils, therapeutic use. Foram identificados 63 artigos, selecionados artigos independentes do idioma, limite temporal entre 2009 a 2019, encontrados na íntegra e que retratassem tratamento em humanos, como critérios de exclusão, estudos com animais, e metodologia incompleta. Desse modo, foram eleitos 13 artigos. Resultados: em um estudo no nordeste brasileiro, fatores ambientais influenciam na disseminação da tungíase somado à precariedade da população, favorecendo surtos da doença. Em uma comunidade do Quênia, foi realizado um ensaio clínico randomizado com óleo de coco e permanganato de potássio, o tratamento com os óleos foi mais eficaz, pois reduziu o nível de inflamação, dor e coceira. Somado a isso, um estudo mais recente, evidencia, através de ensaio clínico randomizado, que o uso de sapatos tem efeito protetor e o uso de óleos é preventivo na infestação. Conclusão: a utilização de óleos no tratamento da prevenção da tungíase mostrou-se eficaz, além de ser uma forma acessível a população, além de não oferecer riscos com a retirada manual da pulga.
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Zhang, Li, Vijaylaxmi Gumaste, Anindya Poddar, Luu Nguyen, and Gary Schulze. "Analytical and Experimental Characterization of Bonding Over Active Circuitry." In ASME 2005 Pacific Rim Technical Conference and Exhibition on Integration and Packaging of MEMS, NEMS, and Electronic Systems collocated with the ASME 2005 Heat Transfer Summer Conference. ASMEDC, 2005. http://dx.doi.org/10.1115/ipack2005-73328.

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Placing active circuitry directly underneath the bond pads is an effective way to reduce the die size, and hence to achieve lower cost per chip. The main concern with such design is the possible mechanical damage to the underlying circuitry during the wire bonding process. For example, the initial bond force and subsequent ultrasonic vibration may cause cracks within the dielectric layer. The cracks can penetrate through the active circuitry underneath, resulting in electrical failures to the silicon device. At the present time, most studies found in the literature rely heavily on experimental characterization to study pad integrity. The characterization typically involves building test devices and conducting real-life bonding test. On the other hand, while there are few studies attempting to describe the stress-strain behavior of the process by numerical simulations, most are based on either over-simplified models or incomplete analysis. Furthermore, nearly all of these studies failed to provide any correlation with real test data, and hence the accuracy of the analysis becomes questionable. In this paper, we have developed a finite element based methodology to study the stress behavior of bond pad structures during thermo-sonic wire bonding. Unlike most previous studies, which used 2-D models and plane-strain assumption, the current model captures the 3-D structure of the bond pad and gold ball. The incremental principal stress at the dielectric layer was used as the stress criterion to correlate with dielectric cracking, which is the dominant failure mode during our bonding experiments. The dynamic friction coefficient at the gold-aluminum interface is found to be responsible to the change in magnitude and location of the peak stress. To validate the simulation results, two engineering test chips were built and bonded. The dielectric cracks were found to correlate well with the incremental principal stress. Furthermore, we have shown that the interfacial friction model was able to account for the difference in crack pattern. The FE model is expected to study the relative crack resistance for other bonding over active circuitry pad structures currently under consideration.
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Mayer, A., J. Czerwinski, and M. Kasper. "Nanosize Metal Oxide Particle Emissions From Diesel- and Petrol-Engines." In ASME 2011 Internal Combustion Engine Division Fall Technical Conference. ASMEDC, 2011. http://dx.doi.org/10.1115/icef2011-60045.

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All internal combustion piston engines emit nanoparticles. Part of them are soot particles as a results of incomplete combustion of fuels, or lube oil. Another part are metal particles, most probably oxides, commonly called ash. A major source of metal particles is engine wear and corrosion. The lube oil reentraines these abraded particles into the combustion zone. There they are partially vaporized and ultrafine oxide particles formed through nucleation [1]. Other sources are metallic additives to the lube oil, or the fuel, and debris from the catalytic coatings in the exhaust-gas after-treatment. The formation process results in extremely fine particles, typically smaller than 50 nm. Thus they can intrude through the alveolar membranes directly into the human organism and can even penetrate the cell nucleus [5]. The consequent health risk necessitates a careful investigation of these emissions and effective curtailment. Substantial information is available on Diesel engine particulate emissions, [2, 3, 4] but there are almost no results for SI engines reported. Beside an example of metal oxide particles from a Diesel engine, [2], the present paper shows some preliminary results of particle mass and nanoparticle emissions of SI engines. Four SI engines were investigated: two older and two newer engines, comprising two car engines and two motorbikes. The tests were done on standard transient driving cycles, and steady-state at constant 50 km/h and idling because prior to this study high concentrations of ash were observed with Diesels during idling, [2]. All tests were done with particle samples collected from the CVS tunnel, during long operating periods, to have sufficient material for analyzing. At the steady-state points, the particle size spectra were measured and based on this the source as “ash” postulated. The results show that the older engines emit high concentrations of both soot and ash particles. The size distribution is bimodal for soot and ash particles. The newer engines’ emission results are less uniform and the concentrations are lower, as expected. Altogether, the concentrations of these ash particles in the exhaust gas of Diesel and SI-engines can be so high, that more detailed investigations are requiredy.
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