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Статті в журналах з теми "Sindrome di williams beuren"
Hoang, Thi Ngoc Lan, Duc Thang Bui, Thu Giang Phan, Thi Tuyet Nhung Ngo, Thi Xuan Minh Bui, Thi My Anh Nguyen та Danh Cuong Tran. "Ứng dụng kỹ thuật BoBs để phát hiện một số bất thường nhiễm sắc thể trong chẩn đoán trước sinh". Tạp chí Phụ sản 16, № 3 (1 вересня 2019): 36–41. http://dx.doi.org/10.46755/vjog.2019.3.1069.
Повний текст джерелаДисертації з теми "Sindrome di williams beuren"
Merla, Giuseppe. "Insights into the pathogenic mechanisms of Williams Beuren syndrome through the functional analysis of TRIM50." Doctoral thesis, Università degli studi di Trieste, 2014. http://hdl.handle.net/10077/9987.
Повний текст джерелаLa microdelezione della regione cromosomica 7q11.23, che comprende circa 30 geni causa la sindrome di Williams-Beuren (WBS, OMIM 194050), una patologia genomica neurocomportamentale. Accanto ai sintomi cardiovascolari e ai dismorfismi facciali, il segno distintivo di questa sindrome è costituito dal profilo comportamentale e cognitivo unico che è caratterizzato da una forma moderata-grave di ritardo mentale associato a delle compromesse capacità visivo-spaziali. La dissezione genetica dei fenotipi associati a questa sindrome è effettuata mediante diverse strategie tra cui l’analisi clinica, psicologica e molecolare di pazienti con delezioni definite “atipiche” (più corte o più lunghe), modelli animali (soprattutto murini) e studi funzionali e biochimici sui singoli geni associati alla sindrome. In questo studio, utilizzando una combinazione di approcci biochimici e cellulari mostriamo che TRIM50 forma delle strutture citoplasmatiche (TRIM50 bodies) che rappresentano dei precursori degli Aggresomi. L’Aggresome è una struttura citoplasmatica che si forma a ridosso della membrana nucleare, in cui proteine danneggiate, misfolded e tossiche vengono conservate e modificate prima di essere degradate ed eliminate attraverso il Proteasoma o l’Autofagia. Noi dimostriamo che la proteina TRIM50, mediante la sua attività di E3 ubiquitina ligasi, promuove il reclutamento di proteine poliubiquitinate all’aggresoma e partecipa alla loro eliminazione. Inoltre abbiamo identificato e preliminarmente caratterizzato due proteine che interagiscono con TRIM50, HDAC6 e p62, entrambe coinvolte nei processi di ubiquitinazione e degradazione proteica. Inoltre abbiamo dimostrato che TRIM50 è acetilata da PCAF e p300 e deacetilata da HDAC6 e che l'acetilazione e ubiquitinazione competono per lo stesso residuo di lisina regolando l'attività e la stabilità di TRIM50. Nel complesso i dati ottenuti nel corso di questo progetto di dottorato suggeriscono che TRIM50 è una nuova proteina coinvolta nei processi cellulari di aggregazione ed eliminazione delle proteine danneggiate e non più utili alla cellula. Questo progetto di tesi, anche se studi più approfonditi sono necessari, apre la strada all’interessante ipotesi che la ridotta espressione di TRIM50, osservata nelle linee cellulari di pazienti con Sindrome di Williams, potrebbe causare alcuni fenotipi della Sindrome attraverso l’accumulo all’interno della cellula di proteine danneggiate e tossiche che non possono essere più degradate in modo corretto.
Interstitial deletion of 7q11.23 encompassing approximately 30 transcribed genes causes Williams-Beuren syndrome (WBS; OMIM 194050), a neurodevelopmental genomic disorder. Alongside cardiovascular symptoms and facial dysmorphism, the hallmark is a unique behavioural and cognitive profile that combines hypersociability with a form of mental retardation characterized by a severe impairment in visuospatial processing, counting and planning, pointing to this gene cluster as a central regulator of social behaviour and cognition. The genetic dissection of the phenotypes associated with WBS syndrome have been inferred with complementary strategies including clinical, psychological and molecular analysis of affected individuals with atypical (shorter or larger) deletions, knockout mice model, and functional and biochemical studies on single gene(s). Here we report insights on the function of TRIM50, one of the genes associated to WBS. By using a combination of biochemical and cellular approaches we show that TRIM50 forms cytoplasmic bodies that are aggresome precursors. Aggresome is an inclusion cytoplasmic body where damaged proteins are stored before being degraded through Proteasome or Autophagy-lysosome pathways. We demonstrate that the E3 ubiquitin ligase TRIM50 promotes the recruitment and aggregation of polyubiquitinated proteins to the aggresome and participates to their clearance. In addition we identified and preliminarily characterize the first two interactors of TRIM50 protein, HDAC6 and p62, both involved in protein ubiquitination and degradation processes. Furthermore we report that TRIM50 is acetylated by PCAF and p300 and de-acetylated by HDAC6 in a microtubule-dependent manner and that acetylation and ubiquitination compete for the same lysine residue regulating the activity and stability of TRIM50. Overall the data obtained during this PhD project suggest that TRIM50 is an emerging player of aggregation processes involving polyubiquitinated proteins and in the regulation of misfolded protein aggregates clearance. Interestingly enough, although extensive studies are required, this study opens the way to the interesting hypothesis that the proven haploinsufficiency of TRIM50 could account for certain WBS phenotypes through the accumulation of ubiquitinated proteins otherwise degraded.
XXVI Ciclo
1970
Rossi, Natalia Freitas [UNESP]. "Caracterização do fenótipo comportamental e de linguagem na síndrome de Williams-Beuren." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/102708.
Повний текст джерелаConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
A síndrome de Williams-Beuren (SWB) é um distúrbio neurodesenvolvimental causado por uma deleção hemizigótica de 1.5Mb na região cromossômica 7q11.23. Essa síndrome é reconhecida pelo comportamento sociável com fala fluente e favorecimento das habilidades auditivas se comparadas às visuais. O objetivo deste estudo foi caracterizar o fenótipo comportamental e da linguagem na SWB. A casuística geral desta pesquisa foi formada por 40 indivíduos com diagnóstico da SWB, positivos para a deleção do gene da Elastina na região cromossômica 7q11.23 confirmado pela técnica de Hibridização in situ por Fluorescência (FISH), sendo 30 falantes do Português do Brasil e 10 falantes do Português de Portugal. Também foram avaliados 30 indivíduos controles falantes do Português do Brasil e 10 falantes do Português de Portugal. Para responder ao objetivo, a pesquisa foi dividida em 3 estudos. O objetivo do estudo 1 foi investigar problemas comportamentais de crianças e adolescentes com a SWB, identificados pelos pais e correlacioná-los ao desempenho intelectual e de linguagem. No estudo 2, o objetivo foi caracterizar o perfil da fluência da fala em indivíduos com a SWB na situação de narrativa, comparando-os com indivíduos com desenvolvimento típico de linguagem e idade mental. O objetivo do estudo 3 foi comparar o desempenho de indivíduos com SWB com controles semelhantes por idade mental e cronológica em tarefas auditivas e visuais, além de investigar o perfil de habilidades auditivas comparadas às visuais. Foi aplicado o inventário comportamental Child Behavior Checklist (CBCL/6-18 anos), provas e testes de linguagem para o estudo 1. Foram aplicadas tarefas em situação de narrativa, com apresentação de figura de ação e figuras sequenciais para análise da fluência no estudo 2. O Teste Illinois de Habilidades Psicolinguísticas foi utilizado...
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a hemizygous deletion of 1.5Mb in chromosome region 7q11.23. WBS phenotype has been described as social behavior, fluent speech and superior auditory abilities despite visuospatial impairments. The purpose of this study was to characterize the WBS behavioral and language phenotype. The present study was composed of 40 WBS, positive for Elastin gene deletion on chrosome 7q11.23 confirmed by Fluorescent in Situ Hybridization (FISH), involving 30 Portuguese speakers from Brazil and 10 Portuguese speakers from Portugal. Thirty typically development Portuguese speakers' individuals from Brazil and 10 from Portugal were also involved. To meet the goal, three studies were conducted in this research. In the study 1 the purpose was to investigate behavioral problems according to WBS parents report and to correlate it with the intellectual and language performance. The purpose of the study 2 was to characterize the speech fluency profile of WBS individuals in narrative task and compare to typically development and finally in study 3, was to compare performance of individuals with WBS to chronological aged-matched and mental age matched group on auditory and visual processing. The Child Behavior Checklist (CBCL/6-18 years old) and language tests were applied for study 1. In the study 2, a single-picture and a picture-sequence were applied to assess narrative and speech fluency profile. The Illinois Test of Psycholinguistic Abilities was study 3. Results showed that social and attention problems were mentioned by WBS' parents. The correlation analysis suggested that behavioral problems identified by parents were more directly related to language performance (Study 1). Significant differences were observed in speech fluency profile, especially on common breakdowns (non-stuttered) and pauses often more frequently in the WBS group... (Complete abstract click electronic access below)
Rossi, Natalia Freitas. "Caracterização do fenótipo comportamental e de linguagem na síndrome de Williams-Beuren /." Botucatu : [s.n.], 2010. http://hdl.handle.net/11449/102708.
Повний текст джерелаBanca: Cláudia Aparecida Rainho
Banca: Niura Aparecida de Moura Ribeiro Padula
Banca: Antônia Paula Marques de Faria
Banca: Suelly Cecilia Olivan Limongi
Resumo: A síndrome de Williams-Beuren (SWB) é um distúrbio neurodesenvolvimental causado por uma deleção hemizigótica de 1.5Mb na região cromossômica 7q11.23. Essa síndrome é reconhecida pelo comportamento sociável com fala fluente e favorecimento das habilidades auditivas se comparadas às visuais. O objetivo deste estudo foi caracterizar o fenótipo comportamental e da linguagem na SWB. A casuística geral desta pesquisa foi formada por 40 indivíduos com diagnóstico da SWB, positivos para a deleção do gene da Elastina na região cromossômica 7q11.23 confirmado pela técnica de Hibridização in situ por Fluorescência (FISH), sendo 30 falantes do Português do Brasil e 10 falantes do Português de Portugal. Também foram avaliados 30 indivíduos controles falantes do Português do Brasil e 10 falantes do Português de Portugal. Para responder ao objetivo, a pesquisa foi dividida em 3 estudos. O objetivo do estudo 1 foi investigar problemas comportamentais de crianças e adolescentes com a SWB, identificados pelos pais e correlacioná-los ao desempenho intelectual e de linguagem. No estudo 2, o objetivo foi caracterizar o perfil da fluência da fala em indivíduos com a SWB na situação de narrativa, comparando-os com indivíduos com desenvolvimento típico de linguagem e idade mental. O objetivo do estudo 3 foi comparar o desempenho de indivíduos com SWB com controles semelhantes por idade mental e cronológica em tarefas auditivas e visuais, além de investigar o perfil de habilidades auditivas comparadas às visuais. Foi aplicado o inventário comportamental Child Behavior Checklist (CBCL/6-18 anos), provas e testes de linguagem para o estudo 1. Foram aplicadas tarefas em situação de narrativa, com apresentação de figura de ação e figuras sequenciais para análise da fluência no estudo 2. O Teste Illinois de Habilidades Psicolinguísticas foi utilizado... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a hemizygous deletion of 1.5Mb in chromosome region 7q11.23. WBS phenotype has been described as social behavior, fluent speech and superior auditory abilities despite visuospatial impairments. The purpose of this study was to characterize the WBS behavioral and language phenotype. The present study was composed of 40 WBS, positive for Elastin gene deletion on chrosome 7q11.23 confirmed by Fluorescent in Situ Hybridization (FISH), involving 30 Portuguese speakers from Brazil and 10 Portuguese speakers from Portugal. Thirty typically development Portuguese speakers' individuals from Brazil and 10 from Portugal were also involved. To meet the goal, three studies were conducted in this research. In the study 1 the purpose was to investigate behavioral problems according to WBS parents report and to correlate it with the intellectual and language performance. The purpose of the study 2 was to characterize the speech fluency profile of WBS individuals in narrative task and compare to typically development and finally in study 3, was to compare performance of individuals with WBS to chronological aged-matched and mental age matched group on auditory and visual processing. The Child Behavior Checklist (CBCL/6-18 years old) and language tests were applied for study 1. In the study 2, a single-picture and a picture-sequence were applied to assess narrative and speech fluency profile. The Illinois Test of Psycholinguistic Abilities was study 3. Results showed that social and attention problems were mentioned by WBS' parents. The correlation analysis suggested that behavioral problems identified by parents were more directly related to language performance (Study 1). Significant differences were observed in speech fluency profile, especially on common breakdowns (non-stuttered) and pauses often more frequently in the WBS group... (Complete abstract click electronic access below)
Doutor
Vilardell, Nogales Mireia. "Desarrollo de nuevos métodos estadísticos y/o bioinformáticos para la detección de variaciones en el número de copias (CNVs) y su relación con enfermedades humanas." Doctoral thesis, Universitat Pompeu Fabra, 2008. http://hdl.handle.net/10803/7117.
Повний текст джерелаCRIVELLI, DAVIDE. "Agentività in interazione. Neuropsicologia delle affordances sociali." Doctoral thesis, Università Cattolica del Sacro Cuore, 2013. http://hdl.handle.net/10280/1736.
Повний текст джерелаSocial interactions require an agent to be able to select and process relevant environmental information, to be situated in a complex context and to interact with other agents, according to the opportunities and boundaries of that context. Sensing ourselves and detecting others as intentional agents is a crucial step for the overall social understanding process and, in particular, for our ability to perceive others’ intentions and goals. Those social skills foster our physical, cognitive and affective development by promoting adaptive interactions. Consequently, a dysfunction of such skills can seriously affect the autonomy and quality of life. A distributed system is thought to subserve the perception of agency and others’ mental states, but the internal structure of processes that constitute our ability to understand our similars and interact adequately is still largely unknown. This project aimed at investigating early stages of those processes and, in particular, the initial elaboration of social cues (social affordances) for the detection of agentivity and opportunities for interaction in social situations. It is structured in three main empirical studies: the first one aimed at looking electrophysiological correlates (ERPs and source localization data) of visual information processing for the detection of agency in interactions; the second one aimed at looking for possible markers (ERPs) of the uneven profile of basic WS social understanding; the third one tested the causal role of rTPJ in mediating pre-reflective processing of agency and intentionality from observed behaviour by means of TMS.
CRIVELLI, DAVIDE. "Agentività in interazione. Neuropsicologia delle affordances sociali." Doctoral thesis, Università Cattolica del Sacro Cuore, 2013. http://hdl.handle.net/10280/1736.
Повний текст джерелаSocial interactions require an agent to be able to select and process relevant environmental information, to be situated in a complex context and to interact with other agents, according to the opportunities and boundaries of that context. Sensing ourselves and detecting others as intentional agents is a crucial step for the overall social understanding process and, in particular, for our ability to perceive others’ intentions and goals. Those social skills foster our physical, cognitive and affective development by promoting adaptive interactions. Consequently, a dysfunction of such skills can seriously affect the autonomy and quality of life. A distributed system is thought to subserve the perception of agency and others’ mental states, but the internal structure of processes that constitute our ability to understand our similars and interact adequately is still largely unknown. This project aimed at investigating early stages of those processes and, in particular, the initial elaboration of social cues (social affordances) for the detection of agentivity and opportunities for interaction in social situations. It is structured in three main empirical studies: the first one aimed at looking electrophysiological correlates (ERPs and source localization data) of visual information processing for the detection of agency in interactions; the second one aimed at looking for possible markers (ERPs) of the uneven profile of basic WS social understanding; the third one tested the causal role of rTPJ in mediating pre-reflective processing of agency and intentionality from observed behaviour by means of TMS.
Книги з теми "Sindrome di williams beuren"
Gemma, Calamandrei, ed. Identificazione e caratterizzazione della sindrome di Williams. Roma: Istituto superiore di sanità, 1997.
Знайти повний текст джерелаDire lo spazio: Linguaggio, spazialità e sindrome di Williams. Acireale (Catania): Bonanno, 2008.
Знайти повний текст джерела