Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders / K. LI in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Titre : Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders Type de document : Texte imprimé et/ou numérique Auteurs : K. LI, Auteur ; Z. FANG, Auteur ; G. ZHAO, Auteur ; B. LI, Auteur ; C. CHEN, Auteur ; L. XIA, Auteur ; L. WANG, Auteur ; T. LUO, Auteur ; X. WANG, Auteur ; Z. WANG, Auteur ; Y. ZHANG, Auteur ; Y. JIANG, Auteur ; Q. PAN, Auteur ; Z. HU, Auteur ; H. GUO, Auteur ; B. TANG, Auteur ; C. LIU, Auteur ; Z. SUN, Auteur ; K. XIA, Auteur ; J. LI, Auteur Article en page(s) : p.1299-1313 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR? En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders [Texte imprimé et/ou numérique] / K. LI, Auteur ; Z. FANG, Auteur ; G. ZHAO, Auteur ; B. LI, Auteur ; C. CHEN, Auteur ; L. XIA, Auteur ; L. WANG, Auteur ; T. LUO, Auteur ; X. WANG, Auteur ; Z. WANG, Auteur ; Y. ZHANG, Auteur ; Y. JIANG, Auteur ; Q. PAN, Auteur ; Z. HU, Auteur ; H. GUO, Auteur ; B. TANG, Auteur ; C. LIU, Auteur ; Z. SUN, Auteur ; K. XIA, Auteur ; J. LI, Auteur . - p.1299-1313. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1299-1313 Mots-clés : Autism Spectrum Disorder/genetics  Genetic Predisposition to Disease  Humans  Intellectual Disability/genetics  Mutation  Phenotype  Schizophrenia  Candidate gene  De novo mutation  Expression pattern  Functional network  Neuropsychiatric disorder Index. décimale : PER Périodiques Résumé : The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR? En ligne : http://dx.doi.org/10.1007/s10803-021-05031-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins / J. LI in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.4 Titre : Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins Type de document : Texte imprimé et/ou numérique Auteurs : J. LI, Auteur ; G. ZHAO, Auteur ; X. GAO, Auteur Article en page(s) : p.4 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders are classified as diseases that cause abnormal functions of the brain or central nervous system. Children with neurodevelopmental disorders show impaired language and speech abilities, learning and memory damage, and poor motor skills. However, we still know very little about the molecular etiology of these disorders. Recent evidence implicates the bromodomain-containing proteins (BCPs) in the initiation and development of neurodevelopmental disorders. BCPs have a particular domain, the bromodomain (Brd), which was originally identified as specifically binding acetyl-lysine residues at the N-terminus of histone proteins in vitro and in vivo. Other domains of BCPs are responsible for binding partner proteins to form regulatory complexes. Once these complexes are assembled, BCPs alter chromosomal states and regulate gene expression. Some BCP complexes bind nucleosomes, are involved in basal transcription regulation, and influence the transcription of many genes. However, most BCPs are involved in targeting. For example, some BCPs function as a recruitment platform or scaffold through their Brds-binding targeting sites. Others are recruited to form a complex to bind the targeting sites of their partners. The regulation mediated by these proteins is especially critical during normal and abnormal development. Mutant BCPs or dysfunctional BCP-containing complexes are implicated in the initiation and development of neurodevelopmental disorders. However, the pathogenic molecular mechanisms are not fully understood. In this review, we focus on the roles of regulatory BCPs associated with neurodevelopmental disorders, including mental retardation, Fragile X syndrome (FRX), Williams syndrome (WS), Rett syndrome and Rubinstein-Taybi syndrome (RTS). A better understanding of the molecular pathogenesis, based upon the roles of BCPs, will lead to screening of targets for the treatment of neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins [Texte imprimé et/ou numérique] / J. LI, Auteur ; G. ZHAO, Auteur ; X. GAO, Auteur . - p.4. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.4 Index. décimale : PER Périodiques Résumé : Neurodevelopmental disorders are classified as diseases that cause abnormal functions of the brain or central nervous system. Children with neurodevelopmental disorders show impaired language and speech abilities, learning and memory damage, and poor motor skills. However, we still know very little about the molecular etiology of these disorders. Recent evidence implicates the bromodomain-containing proteins (BCPs) in the initiation and development of neurodevelopmental disorders. BCPs have a particular domain, the bromodomain (Brd), which was originally identified as specifically binding acetyl-lysine residues at the N-terminus of histone proteins in vitro and in vivo. Other domains of BCPs are responsible for binding partner proteins to form regulatory complexes. Once these complexes are assembled, BCPs alter chromosomal states and regulate gene expression. Some BCP complexes bind nucleosomes, are involved in basal transcription regulation, and influence the transcription of many genes. However, most BCPs are involved in targeting. For example, some BCPs function as a recruitment platform or scaffold through their Brds-binding targeting sites. Others are recruited to form a complex to bind the targeting sites of their partners. The regulation mediated by these proteins is especially critical during normal and abnormal development. Mutant BCPs or dysfunctional BCP-containing complexes are implicated in the initiation and development of neurodevelopmental disorders. However, the pathogenic molecular mechanisms are not fully understood. In this review, we focus on the roles of regulatory BCPs associated with neurodevelopmental disorders, including mental retardation, Fragile X syndrome (FRX), Williams syndrome (WS), Rett syndrome and Rubinstein-Taybi syndrome (RTS). A better understanding of the molecular pathogenesis, based upon the roles of BCPs, will lead to screening of targets for the treatment of neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

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