Search results for "Expressivity"
showing 10 items of 17 documents
Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations
2020
Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
2005
Hereditary predisposition to retinoblastoma is caused by germ line mutations in the RB1 gene. Genetic counseling of affected individuals and accurate risk prediction for their families requires identification of the disease causing mutation. Furthermore, the nature of a mutation can determine genetic penetrance, disease presentation and prognosis. We describe, and functionally characterize here, a novel mutant allele of RB1 present in the germ line of a patient with sporadic bilateral retinoblastoma. The mutation generates an operational splice acceptor site resulting in a predicted protein product with loss of 81 amino acids from its carboxy terminus. We demonstrate that the aberrantly spl…
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
(De)terminologisation processes in wine tasting notes : How expressive are canonical and non-canonical hedonic markers?
2022
Following the proposal of Gautier (2018), an important part of the “terminology” of wine tasting notes is made up by hedonic markers that cannot always be treated as terms – in the traditional meaning of technical/specialised terms – as they lack a consensual definition acknowledged by field experts. The main challenges of such markers concern at least the following three dimensions: (i) they are directly linked to the gustative experience of the taster/speaker and his/her experiential memory; (ii) they are also linked to the field knowledge and the degree of expertise of the taster/speaker – be it a “true” knowledge or his/her ability to imitate expert discourse and (iii) they are mostly s…
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
2018
AbstractPurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations.ResultsThe number of rare secondary mutations in functionally intolerant genes (second-hits) correlated with the expressivity of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in probands with autism carrying gene-disruptive mutations (n=184, p=0.03) compared to …
Improvising on Emotion Terms: Students’ Strategies, Emotional Communication, and Aesthetic Value
2021
Studies in musical improvisation show that musicians and even children are able to communicate intended emotions to listeners at will. To understand emotional expressivity in music as an art form, communicative success needs to be related to improvisers’ thought processes and listeners’ aesthetic judgments. In the present study, we used retrospective verbal protocols to address college music students’ strategies in improvisations based on emotion terms. We also subjected their improvisations to expert ratings in terms of heard emotional content and aesthetic value. A qualitative analysis showed that improvisers used both generative strategies (expressible in intramusical terms) and imagina…
Expresivitatea limbajului popular în romanul haiducesc „Iancu Jianu, zapciu de plasă” și „Iancu Jianu, căpitan de haiduci” de Nicolae D. Popescu
2021
This paper analyzes the expressivity of popular language from the novels ”Iancu Jianu, Head of Administration” and ”Iancu Jianu, Captain of the Hajduks” by N.D. Popescu. The popular language is a language specific aspect, a language version and a main component of the oral version of the national language. In literary works, the popular language has a stylistic purpose. The aesthetic value of the text is the result of the process by which the expressiveness of the writer`s language is converted into an individual literary rule. The stylistic processes and brands encountered in popular language are national specific and they reflect the history, the way of thinking and the feelings of Romani…
Influence of expressive versus mechanical musical performance on short-term memory for musical excerpts
2012
Recognition memory for details of musical phrases (discrimination between targets and similar lures) improves for up to 15 s following the presentation of a target, during continuous listening to the ongoing piece. This is attributable to binding of stimulus features during that time interval. The ongoing-listening paradigm is an ecologically valid approach for investigating short-term memory, but previous studies made use of relatively mechanical MIDI-produced stimuli. The present study assessed whether expressive performances would modulate the previously reported finding. Given that expressive performances introduced slight differences between initially presented targets and their target…
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
2006
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…
La guerre en Syrie dans la presse en ligne : quelle expressivité dans les commentaires publics?
2018
A war is defined as a conflict between two or more countries, states, social groups, individuals, with or without an armed struggle. Currently the Western media, including online press, are very interested in the Syrian war. The Syrian civil war broke out in the context of the Arab Spring, starting with mostly peaceful demonstrations in favour of democracy and against the Baathist regime led by president Bashar al-Assad. It quickly turned into an armed rebellion that demanded the intervention of some Western countries, thus provoking much discussion. In this paper we try to understand how the phenomenon of war can intervene in the choice of identity disclosure of internet users. It should b…