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[PMID]:29339157
[Au] Autor:Teng Y; Pramanik S; Tateishi-Karimata H; Ohyama T; Sugimoto N
[Ad] Endereço:Frontier Institute for Biomolecular Engineering Research (FIBER), Konan University, 7-1-20 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan.
[Ti] Título:Drastic stability change of X-X mismatch in d(CXG) trinucleotide repeat disorders under molecular crowding condition.
[So] Source:Biochem Biophys Res Commun;496(2):601-607, 2018 02 05.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The trinucleotide repeat d(CXG) (X = A, C, G or T) is the most common sequence causing repeat expansion disorders. The formation of non-canonical structures, such as hairpin structures with X-X mismatches, has been proposed to affect gene expression and regulation, which are important in pathological studies of these devastating neurological diseases. However, little information is available regarding the thermodynamics of the repeat sequence under crowded cellular conditions where many non-canonical structures such as G-quadruplexes are highly stabilized, while duplexes are destabilised. In this study, we investigated the different stabilities of X-X mismatches in the context of internal d(CXG) self-complementary sequences in an environment with a high concentration of cosolutes to mimic the crowding conditions in cells. The stabilities of full-matched duplexes and duplexes with A-A, G-G, and T-T mismatched base pairs under molecular crowding conditions were notably decreased compared to under dilute conditions. However, the stability of the DNA duplex with a C-C mismatch base pair was only slightly destabilised. Investigating different stabilities of X-X mismatches in d(CXG) sequences is important for improving our understanding of the formation and transition of multiple non-canonical structures in trinucleotide repeat diseases, and may provide insights for pathological studies and drug development.
[Mh] Termos MeSH primário: Pareamento Incorreto de Bases
DNA/genética
Repetições de Trinucleotídeos
[Mh] Termos MeSH secundário: Sequência de Bases
DNA/química
Quadruplex G
Conformação de Ácido Nucleico
Polietilenoglicóis/química
Termodinâmica
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
30IQX730WE (Polyethylene Glycols); 9007-49-2 (DNA)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180118
[St] Status:MEDLINE


  2 / 3758 MEDLINE  
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[PMID]:29346421
[Au] Autor:Higgins R; Kabbaj MH; Hatcher A; Wang Y
[Ad] Endereço:Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, Florida, United States of America.
[Ti] Título:The absence of specific yeast heat-shock proteins leads to abnormal aggregation and compromised autophagic clearance of mutant Huntingtin proteins.
[So] Source:PLoS One;13(1):e0191490, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The functionality of a protein depends on its correct folding, but newly synthesized proteins are susceptible to aberrant folding and aggregation. Heat shock proteins (HSPs) function as molecular chaperones that aid in protein folding and the degradation of misfolded proteins. Trinucleotide (CAG) repeat expansion in the Huntingtin gene (HTT) results in the expression of misfolded Huntingtin protein (Htt), which contributes to the development of Huntington's disease. We previously found that the degradation of mutated Htt with polyQ expansion (Htt103QP) depends on both ubiquitin proteasome system and autophagy. However, the role of heat shock proteins in the clearance of mutated Htt remains poorly understood. Here, we report that cytosolic Hsp70 (Ssa family), its nucleotide exchange factors (Sse1 and Fes1), and a Hsp40 co-chaperone (Ydj1) are required for inclusion body formation of Htt103QP proteins and their clearance via autophagy. Extended induction of Htt103QP-GFP leads to the formation of a single inclusion body in wild-type yeast cells, but mutant cells lacking these HSPs exhibit increased number of Htt103QP aggregates. Most notably, we detected more aggregated forms of Htt103QP in sse1Δ mutant cells using an agarose gel assay. Increased protein aggregates are also observed in these HSP mutants even in the absence Htt103QP overexpression. Importantly, these HSPs are required for autophagy-mediated Htt103QP clearance, but are less critical for proteasome-dependent degradation. These findings suggest a chaperone network that facilitates inclusion body formation of misfolded proteins and the subsequent autophagic clearance.
[Mh] Termos MeSH primário: Autofagia
Proteínas de Choque Térmico/metabolismo
Proteína Huntingtina/genética
Mutação
Proteínas de Saccharomyces cerevisiae/metabolismo
[Mh] Termos MeSH secundário: Saccharomyces cerevisiae/genética
Saccharomyces cerevisiae/metabolismo
Repetições de Trinucleotídeos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Heat-Shock Proteins); 0 (Huntingtin Protein); 0 (Saccharomyces cerevisiae Proteins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180119
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191490


  3 / 3758 MEDLINE  
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[PMID]:29254307
[Au] Autor:Goren A; Shapiro J; Naccarato T; Situm M; Kovacevic M; Lonky N; Lotti T; McCoy J
[Ad] Endereço:Applied Biology, Inc., Irvine, CA, USA.
[Ti] Título:Social selection favours offspring prone to the development of androgenetic alopecia.
[So] Source:J Biol Regul Homeost Agents;31(4):1013-1016, 2017 Oct-Dec.
[Is] ISSN:0393-974X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:In recent years, dermatologists have observed an increase in the incidence of male androgenetic alopecia (AGA). In a survey of 41 dermatologists, 88% reported an increase in incidence of AGA in men younger than 30 years. This phenomenon has no apparent explanation. However, due to the strong genetic inheritance component of AGA, a social or environmental factor which favours the inheritance of genes that increase the risk of developing AGA is suspected. To date, the strongest predictor of AGA in men has been the length of the CAG repeat located in the androgen receptor gene (AR gene) on the X chromosome. The same genetic variant in women is associated with ovulation at a later age, higher antral follicle count, and lower risk for premature ovarian failure. This led us to theorize that, due to social pressure to conceive later in life, women carriers of the short CAG repeat in the AR gene would have a selective advantage to conceive later in life and would thus favour male offspring exhibiting AGA.
[Mh] Termos MeSH primário: Alopecia/genética
Predisposição Genética para Doença
Herança Materna
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Alopecia/diagnóstico
Cromossomos Humanos X/química
Cromossomos Humanos X/metabolismo
Feminino
Fertilização/genética
Expressão Gênica
Seres Humanos
Masculino
Folículo Ovariano/citologia
Folículo Ovariano/fisiologia
Ovulação/genética
Receptores Androgênicos/química
Seleção Genética
Fatores Socioeconômicos
Repetições de Trinucleotídeos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE


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[PMID]:29324753
[Au] Autor:Langfelder P; Gao F; Wang N; Howland D; Kwak S; Vogt TF; Aaronson JS; Rosinski J; Coppola G; Horvath S; Yang XW
[Ad] Endereço:Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States of America.
[Ti] Título:MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice.
[So] Source:PLoS One;13(1):e0190550, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In Huntington's disease (HD) patients and in model organisms, messenger RNA transcriptome has been extensively studied; in contrast, comparatively little is known about expression and potential role of microRNAs. Using RNA-sequencing, we have quantified microRNA expression in four brain regions and liver, at three different ages, from an allelic series of HD model mice with increasing CAG length in the endogenous Huntingtin gene. Our analyses reveal CAG length-dependent microRNA expression changes in brain, with 159 microRNAs selectively altered in striatum, 102 in cerebellum, 51 in hippocampus, and 45 in cortex. In contrast, a progressive CAG length-dependent microRNA dysregulation was not observed in liver. We further identify microRNAs whose transcriptomic response to CAG length expansion differs significantly among the brain regions and validate our findings in data from a second, independent cohort of mice. Using existing mRNA expression data from the same animals, we assess the possible relationships between microRNA and mRNA expression and highlight candidate microRNAs that are negatively correlated with, and whose predicted targets are enriched in, CAG-length dependent mRNA modules. Several of our top microRNAs (Mir212/Mir132, Mir218, Mir128 and others) have been previously associated with aspects of neuronal development and survival. This study provides an extensive resource for CAG length-dependent changes in microRNA expression in disease-vulnerable and -resistant brain regions in HD mice, and provides new insights for further investigation of microRNAs in HD pathogenesis and therapeutics.
[Mh] Termos MeSH primário: Proteína Huntingtina/genética
Doença de Huntington/genética
MicroRNAs/genética
Repetições de Trinucleotídeos
[Mh] Termos MeSH secundário: Animais
Encéfalo/metabolismo
Seres Humanos
Camundongos
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; VALIDATION STUDIES
[Nm] Nome de substância:
0 (HTT protein, human); 0 (Huntingtin Protein); 0 (MicroRNAs)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190550


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[PMID]:28814542
[Au] Autor:Bailey DB; Berry-Kravis E; Gane LW; Guarda S; Hagerman R; Powell CM; Tassone F; Wheeler A
[Ad] Endereço:Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina; dbailey@rti.org.
[Ti] Título:Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
[So] Source:Pediatrics;139(Suppl 3):S216-S225, 2017 Jun.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. METHODS: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of carrier gene expansions, study the consent process, and describe early development and behavior of identified children. RESULTS: A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening. CONCLUSIONS: The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families.
[Mh] Termos MeSH primário: Síndrome do Cromossomo X Frágil/diagnóstico
Síndrome do Cromossomo X Frágil/genética
Triagem Neonatal
[Mh] Termos MeSH secundário: Adaptação Psicológica
Alelos
Estudos Transversais
Técnicas de Apoio para a Decisão
Diagnóstico Precoce
Intervenção Médica Precoce
Feminino
Seguimentos
Proteína do X Frágil de Retardo Mental/genética
Síndrome do Cromossomo X Frágil/psicologia
Triagem de Portadores Genéticos
Seres Humanos
Recém-Nascido
Masculino
Triagem Neonatal/psicologia
Consentimento dos Pais
Pais/psicologia
Aceitação pelo Paciente de Cuidados de Saúde
Projetos Piloto
Repetições de Trinucleotídeos/genética
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (FMR1 protein, human); 139135-51-6 (Fragile X Mental Retardation Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1542/peds.2016-1159H


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[PMID]:28814538
[Au] Autor:Wheeler A; Raspa M; Hagerman R; Mailick M; Riley C
[Ad] Endereço:RTI International, Research Triangle Park, North Carolina; acwheeler@rti.org.
[Ti] Título:Implications of the Premutation for Children, Adolescents, Adults, and Their Families.
[So] Source:Pediatrics;139(Suppl 3):S172-S182, 2017 Jun.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVES: Given the nature of gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an premutation, including possible implications into adulthood. METHODS: A structured electronic literature search was conducted on pre- and full mutations, yielding a total of 306 articles examined. Of these, 116 focused primarily on the premutation and are included in this review. RESULTS: Based on the literature review, 5 topic areas are discussed: genetics and epidemiology; phenotypic characteristics of individuals with the premutation; implications for carrier parents of children with FXS; implications for the extended family; and implications for pediatricians. CONCLUSIONS: Although the premutation phenotype is typically less severe in clinical presentation than in FXS, premutation carriers are much more common and are therefore more likely to be seen in a typical pediatric practice. In addition, there is a wide range of medical, cognitive/developmental, and psychiatric associated features that individuals with a premutation are at increased risk for having, which underscores the importance of awareness on the part of pediatricians in identifying and monitoring premutation carriers and recognizing the impact this identification may have on family members.
[Mh] Termos MeSH primário: Expansão das Repetições de DNA/genética
Proteína do X Frágil de Retardo Mental/genética
Síndrome do Cromossomo X Frágil/genética
Predisposição Genética para Doença/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Ataxia/diagnóstico
Ataxia/genética
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico
Transtorno do Deficit de Atenção com Hiperatividade/genética
Transtorno do Espectro Autista/diagnóstico
Transtorno do Espectro Autista/genética
Criança
Comorbidade
Variações do Número de Cópias de DNA/genética
Função Executiva
Feminino
Síndrome do Cromossomo X Frágil/diagnóstico
Síndrome do Cromossomo X Frágil/epidemiologia
Triagem de Portadores Genéticos
Testes Genéticos
Seres Humanos
Lactente
Fenótipo
Insuficiência Ovariana Primária/diagnóstico
Insuficiência Ovariana Primária/genética
Fatores de Risco
Tremor/diagnóstico
Tremor/genética
Repetições de Trinucleotídeos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (FMR1 protein, human); 139135-51-6 (Fragile X Mental Retardation Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1542/peds.2016-1159D


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[PMID]:28814537
[Au] Autor:Raspa M; Wheeler AC; Riley C
[Ad] Endereço:RTI International, Research Triangle Park, North Carolina; and mraspa@rti.org.
[Ti] Título:Public Health Literature Review of Fragile X Syndrome.
[So] Source:Pediatrics;139(Suppl 3):S153-S171, 2017 Jun.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS: An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS: The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS: The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.
[Mh] Termos MeSH primário: Síndrome do Cromossomo X Frágil/genética
Saúde Pública
[Mh] Termos MeSH secundário: Adulto
Cuidadores/psicologia
Criança
Estudos Transversais
Análise Mutacional de DNA
Assistência à Saúde
Deficiências do Desenvolvimento/diagnóstico
Deficiências do Desenvolvimento/genética
Diagnóstico Diferencial
Feminino
Proteína do X Frágil de Retardo Mental/genética
Síndrome do Cromossomo X Frágil/diagnóstico
Síndrome do Cromossomo X Frágil/psicologia
Síndrome do Cromossomo X Frágil/terapia
Testes Genéticos
Seres Humanos
Transtornos do Desenvolvimento da Linguagem/diagnóstico
Transtornos do Desenvolvimento da Linguagem/genética
Transtornos do Desenvolvimento da Linguagem/psicologia
Transtornos do Desenvolvimento da Linguagem/terapia
Masculino
Poder Familiar/psicologia
Fenótipo
Prognóstico
Ajustamento Social
Repetições de Trinucleotídeos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (FMR1 protein, human); 139135-51-6 (Fragile X Mental Retardation Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171001
[Lr] Data última revisão:
171001
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1542/peds.2016-1159C


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[PMID]:28811219
[Au] Autor:Guo H; Kazadaeva Y; Ortega FE; Manjunath N; Desai TJ
[Ad] Endereço:Center of Emphasis in Infectious Disease, Department of Biomedical Sciences, Texas Tech University Health Sciences Center, El Paso, TX 79905, United States.
[Ti] Título:Trinucleotide repeat containing 6c (TNRC6c) is essential for microvascular maturation during distal airspace sacculation in the developing lung.
[So] Source:Dev Biol;430(1):214-223, 2017 10 01.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GW182 (also known asTNRC6) family members are critically involved in the final effector phase of miRNA-mediated mRNA repression. The three mammalian paralogs, TNRC6a, b and c, are thought to be redundant based on Argonaute (Ago) binding, tethering assays, and RNAi silencing of individual members in cell lines. To test this idea, we generated TNRC6a, b and c knockout mice. TNRC6a mutants die at mid-gestation, while b- and c- deleted mice are born at a Mendelian ratio. However, the majority of TNRC6b and all TNRC6c mutants die within 24h after birth, the latter with respiratory failure. Necropsy of TNRC6c mutants revealed normal-appearing airways that give rise to abnormally thick-walled distal gas exchange sacs. Immunohistological analysis of mutant lungs demonstrated a normal distribution of bronchiolar and alveolar cells, indicating that loss of TNRC6c did not abrogate epithelial cell differentiation. The cellular kinetics and relative proportions of endothelial, epithelial, and mesenchymal cells were also not altered. However, the underlying capillary network was simplified and endothelial cells had failed to become tightly apposed to the surface epithelium in TNRC6c mutants, presumably causing the observed respiratory failure. TGFß family mutant mice exhibit a similar lung phenotype of thick-walled air sacs and neonatal lethality, and qRT-PCR confirmed dynamic downregulation of TGFß1 and TGFßR2 in TNRC6c mutant lungs during sacculation. VEGFR, but not VEGF-A ligand, was also lower, likely reflecting the overall reduced capillary density in TNRC6c mutants. Together, these results demonstrate that GW182 paralogs are not functionally redundant in vivo. Surprisingly, despite regulating a general cellular process, TNRC6c is selectively required only in the distal lung and not until late in gestation for proper expression of the TGFß family genes that drive sacculation. These results imply a complex and indirect mode of regulation of sacculation by TNRC6c, mediated in part by dynamic transcriptional repression of an inhibitor of TGFß family gene expression.
[Mh] Termos MeSH primário: Autoantígenos/metabolismo
Pulmão/irrigação sanguínea
Pulmão/embriologia
Microvasos/embriologia
Microvasos/metabolismo
Organogênese
Proteínas de Ligação a RNA/metabolismo
Repetições de Trinucleotídeos/genética
[Mh] Termos MeSH secundário: Animais
Autoantígenos/genética
Diferenciação Celular
Células Epiteliais/citologia
Células Epiteliais/metabolismo
Gases/metabolismo
Deleção de Genes
Regulação da Expressão Gênica no Desenvolvimento
Células Germinativas/metabolismo
Pulmão/metabolismo
Mesoderma/embriologia
Mesoderma/metabolismo
Camundongos
Camundongos Knockout
Organogênese/genética
Proteínas de Ligação a RNA/genética
Reprodutibilidade dos Testes
Homologia de Sequência de Aminoácidos
Fator de Crescimento Transformador beta/genética
Fator de Crescimento Transformador beta/metabolismo
Fator A de Crescimento do Endotélio Vascular/genética
Fator A de Crescimento do Endotélio Vascular/metabolismo
Gravação em Vídeo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Autoantigens); 0 (Gases); 0 (RNA-Binding Proteins); 0 (Transforming Growth Factor beta); 0 (Vascular Endothelial Growth Factor A); 0 (trinucleotide repeat containing 6a protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171111
[Lr] Data última revisão:
171111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170817
[St] Status:MEDLINE


  9 / 3758 MEDLINE  
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[PMID]:28720120
[Au] Autor:Liu Q; Zhang P; Wang D; Gu W; Wang K
[Ad] Endereço:Institute for Genomic Medicine, Columbia University, New York, NY, 10032, USA.
[Ti] Título:Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing.
[So] Source:Genome Med;9(1):65, 2017 Jul 18.
[Is] ISSN:1756-994X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing data. Evaluation on simulation data, real amplicon sequencing data on two repeat expansion disorders, and whole-genome sequencing data generated by PacBio and Oxford Nanopore technologies showed superior performance over competing approaches. We concluded that long-read sequencing coupled with RepeatHMM can estimate repeat counts on microsatellites and can interrogate the "unsequenceable" genomic trinucleotide repeat disorders.
[Mh] Termos MeSH primário: Algoritmos
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Análise de Sequência de DNA/métodos
Repetições de Trinucleotídeos
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170720
[St] Status:MEDLINE
[do] DOI:10.1186/s13073-017-0456-7


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[PMID]:28700917
[Au] Autor:Pan F; Man VH; Roland C; Sagui C
[Ad] Endereço:Department of Physics, North Carolina State University, Raleigh, North Carolina.
[Ti] Título:Structure and Dynamics of DNA and RNA Double Helices of CAG and GAC Trinucleotide Repeats.
[So] Source:Biophys J;113(1):19-36, 2017 Jul 11.
[Is] ISSN:1542-0086
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CAG trinucleotide repeats are known to cause 10 late-onset progressive neurodegenerative disorders as the repeats expand beyond a threshold, whereas GAC repeats are associated with skeletal dysplasias and expand from the normal five to a maximum of seven repeats. The TR secondary structure is believed to play a role in CAG expansions. We have carried out free energy and molecular dynamics studies to determine the preferred conformations of the A-A noncanonical pairs in (CAG) and (GAC) trinucleotide repeats (n = 1, 4) and the consequent changes in the overall structure of the RNA and DNA duplexes. We find that the global free energy minimum corresponds to A-A pairs stacked inside the core of the helix with anti-anti conformations in RNA and (high-anti)-(high-anti) conformations in DNA. The next minimum corresponds to anti-syn conformations, whereas syn-syn conformations are higher in energy. Transition rates of the A-A conformations are higher for RNA than DNA. Mechanisms for these various transitions are identified. Additional structural and dynamical aspects of the helical conformations are explored, with a focus on contrasting CAG and GAC duplexes. The neutralizing ion distribution around the noncanonical pairs is described.
[Mh] Termos MeSH primário: DNA
Conformação de Ácido Nucleico
RNA
Repetições de Trinucleotídeos
[Mh] Termos MeSH secundário: Cátions/química
DNA/química
Concentração de Íons de Hidrogênio
Simulação de Dinâmica Molecular
Análise de Componente Principal
RNA/química
Sódio/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cations); 63231-63-0 (RNA); 9007-49-2 (DNA); 9NEZ333N27 (Sodium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE



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