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[PMID]:28467379
[Au] Autor:Zhong J; Cheng CY; Gao BD; Zhou Q; Zhu HJ
[Ad] Endereço:Hunan Provincial Key Laboratory for Biology and Control of Plant Diseases and Insect Pests, Hunan Agricultural University, Nongda Road 1, Furong District, Changsha 410128, China. wzzhtx@sina.com.
[Ti] Título:Mycoviruses in the Plant Pathogen Ustilaginoidea virens Are Not Correlated with the Genetic Backgrounds of Its Hosts.
[So] Source:Int J Mol Sci;18(5), 2017 May 03.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:, the causal agent of rice false smut, is one of the most devastating grain diseases that causes loss of yield in most rice-growing areas worldwide. In this study, we performed a dsRNA screen to isolate mycoviruses from 35 strains. The results revealed that 34 of the tested isolates were infected by various dsRNA elements, displaying highly viral diversity and mixed infections. We characterized a 5.3 kbp dsRNA from a typical isolate containing dsRNA segments with sizes ranging from 0.5 to 5.3 kbp. Sequence analysis of its genomic properties indicated that it is a novel victorivirus, named RNA virus 5 (UvRV5), that belongs to the family . RT-PCR detection was performed and indicated that not all the dsRNA bands that were 5.3 kbp in size contained UvRV5. Moreover, the genetic relatedness of all the strains was estimated according to phylogenetic analysis of the partial intergenic spacer region (IGS) sequences. However, concordance was not found between the dsRNA profiles and the IGS-based genetic relatedness of their host fungi.
[Mh] Termos MeSH primário: Micovírus/genética
Interações Hospedeiro-Patógeno/genética
Hypocreales/genética
Hypocreales/virologia
Oryza/microbiologia
Doenças das Plantas/microbiologia
Totiviridae/genética
[Mh] Termos MeSH secundário: Patrimônio Genético
Genoma Fúngico
Genoma Viral
Filogenia
RNA de Cadeia Dupla/isolamento & purificação
Análise de Sequência de RNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Double-Stranded)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE


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[PMID]:29178656
[Au] Autor:Wada Y; Ohno S; Aiba T; Horie M
[Ad] Endereço:Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.
[Ti] Título:Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[So] Source:Mol Genet Genomic Med;5(6):639-651, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014. Seventy-five probands who fulfilled "definite" category according to the 2010 Task Force Criteria (TFC) were enrolled and followed up for 6.4 years. Sixty-four percent of probands had desmosomal mutations; DSG2 was predominant (48% of mutations) followed by PKP2 (38%). DSG2 mutations were almost missense, whereas over 90% of PKP2 mutations were truncating mutations. Lethal ventricular arrhythmias (VAs, sustained ventricular tachycardia/fibrillation) occurred in 57% of probands as the first manifestation and 71% at the end of follow-up. Five died during follow-up. Truncating mutation carriers exhibited earlier lethal VAs onset compared to missense mutation carriers or mutation negatives (age at onset 35 ± 12, 49 ± 16, and 50 ± 19 years, respectively, P < 0.05 in each). Cox proportional hazard analysis revealed for the first time that, compared to mutation negatives, truncating mutation carriers had higher risk for lethal VAs, and especially for onset by their 40s, in an age-dependent manner (RR = 4.6, P < 0.01 by their 40s; RR = 2.9, P = 0.01 by their 50s). CONCLUSION: The genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Grupo com Ancestrais do Continente Asiático/genética
[Mh] Termos MeSH secundário: Adulto
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/mortalidade
Estudos de Coortes
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Feminino
Seguimentos
Mutação da Fase de Leitura
Estudos de Associação Genética
Patrimônio Genético
Genótipo
Heterozigoto
Seres Humanos
Japão
Estimativa de Kaplan-Meier
Masculino
Meia-Idade
Mutação de Sentido Incorreto
Razão de Chances
Fenótipo
Placofilinas/genética
Modelos de Riscos Proporcionais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Plakophilins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.311


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[PMID]:29223359
[Au] Autor:Marshall CA; Watkins-Chow DE; Palladino G; Deutsch G; Chandran K; Pavan WJ; Erickson RP
[Ad] Endereço:Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ 85724-5073, United States.
[Ti] Título:In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.
[So] Source:Gene;643:117-123, 2018 Feb 15.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The Npc1 allele of Npc1 provides a mouse model for Niemann-Pick disease type C1 (NPC1), a genetic disease known to have a widely variable phenotype. The transfer of the Npc1 mutation from the C57BL/6J inbred strain to the BALB/cJ inbred strain increased the mean lifespan from 117.8days to 153.1days, confirming that the severity of the NPC1 phenotype is strongly influenced by genetic background. The transfer of another Npc1 allele, Npc1 , to this background also extended survival of the homozygotes indicating that the modifying effect of BALB/cJ is not limited to a single allele of Npc1. The increased longevity due to the BALB/cJ background did not map to a previously mapped modifier on chromosome 19, indicating the presence of additional genes impacting disease severity. The previously studied Glial Fibrillary Acidic Protein promoter-Npc1 cDNA transgene (GFAP-Npc1) which only expresses NPC1 in astrocytes further extended the lifespan of Npc1 homozygotes on a BALB/cJ background (up to 600days). Hydroxypropyl-ß-cyclodextrin (HPßCD) treatment, not previously tested in the Npc1 mutant, extended life in the Npc1 homozygotes but not the transgenic, Npc1 mice on the BALB/cJ background. In all cases, lack of weight gain and early cerebellar symptoms of loss of motor control were found. At termination, the one mouse sacrificed for histological studies showed severe, diffuse pulmonary alveolar proteinosis suggesting that pulmonary abnormalities in NPC1 mouse models are not unique to the Npc1 allele.
[Mh] Termos MeSH primário: Doença de Niemann-Pick Tipo C/metabolismo
Proteínas/genética
Proteínas/metabolismo
[Mh] Termos MeSH secundário: 2-Hidroxipropil-beta-Ciclodextrina
Alelos
Animais
Astrócitos/metabolismo
Cerebelo/citologia
Cerebelo/metabolismo
Modelos Animais de Doenças
Frequência do Gene/genética
Patrimônio Genético
Camundongos
Camundongos Endogâmicos BALB C
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Neuroglia/metabolismo
Doença de Niemann-Pick Tipo C/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Npc1 protein, mouse); 0 (Proteins); 1I96OHX6EK (2-Hydroxypropyl-beta-cyclodextrin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180123
[Lr] Data última revisão:
180123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171211
[St] Status:MEDLINE


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[PMID]:28886070
[Au] Autor:Rangrez AY; Hoppe P; Kuhn C; Zille E; Frank J; Frey N; Frank D
[Ad] Endereço:Department of Internal Medicine III (Cardiology, Angiology, Intensive Care), University Medical Center Kiel, Kiel, Germany.
[Ti] Título:MicroRNA miR-301a is a novel cardiac regulator of Cofilin-2.
[So] Source:PLoS One;12(9):e0183901, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Calsarcin-1 deficient mice develop dilated cardiomyopathy (DCM) phenotype in pure C57BL/6 genetic background (Cs1-ko) despite severe contractile dysfunction and robust activation of fetal gene program. Here we performed a microRNA microarray to identify the molecular causes of this cardiac phenotype that revealed the dysregulation of several microRNAs including miR-301a, which was highly downregulated in Cs1-ko mice compared to the wild-type littermates. Cofilin-2 (Cfl2) was identified as one of the potential targets of miR-301a using prediction databases, which we validated by luciferase assay and mutation of predicted binding sites. Furthermore, expression of miR-301a contrastingly regulated Cfl2 expression levels in neonatal rat ventricular cardiomyocytes (NRVCM). Along these lines, Cfl2 was significantly upregulated in Cs1-ko mice, indicating the physiological association between miR-301a and Cfl2 in vivo. Mechanistically, we found that Cfl2 activated serum response factor response element (SRF-RE) driven luciferase activity in neonatal rat cardiomyocytes and in C2C12 cells. Similarly, knockdown of miR301a activated, whereas, its overexpression inhibited the SRF-RE driven luciferase activity, further strengthening physiological interaction between miR-301a and Cfl2. Interestingly, the expression of SRF and its target genes was strikingly increased in Cs1-ko suggesting a possible in vivo correlation between expression levels of Cfl2/miR-301a and SRF activation, which needs to be independently validated. In summary, our data demonstrates that miR-301a regulates Cofilin-2 in vitro in NRVCM, and in vivo in Cs1-ko mice. Our findings provide an additional and important layer of Cfl2 regulation, which we believe has an extended role in cardiac signal transduction and dilated cardiomyopathy presumably due to the reported involvement of Cfl2 in these mechanisms.
[Mh] Termos MeSH primário: Cofilina 2/genética
Regulação Neoplásica da Expressão Gênica
MicroRNAs/genética
Miocárdio/metabolismo
Interferência de RNA
[Mh] Termos MeSH secundário: Animais
Cardiomiopatia Dilatada/genética
Cardiomiopatia Dilatada/patologia
Fibroblastos/metabolismo
Genes Reporter
Patrimônio Genético
Camundongos
Camundongos Knockout
Proteínas dos Microfilamentos/deficiência
Modelos Biológicos
Proteínas Musculares/deficiência
Miócitos Cardíacos/metabolismo
Fenótipo
Ratos
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cofilin 2); 0 (MIRN301 microRNA, mouse); 0 (MicroRNAs); 0 (Microfilament Proteins); 0 (Muscle Proteins); 0 (Myoz2 protein, mouse)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170909
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0183901


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[PMID]:28826559
[Au] Autor:Vohra R; Batra A; Forbes SC; Vandenborne K; Walter GA
[Ad] Endereço:Department of Physiology and Functional Genomics, College of Medicine, University of Florida, Gainesville, Florida.
[Ti] Título:Magnetic Resonance Monitoring of Disease Progression in mdx Mice on Different Genetic Backgrounds.
[So] Source:Am J Pathol;187(9):2060-2070, 2017 Sep.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Genetic modifiers alter disease progression in both preclinical models and subjects with Duchenne muscular dystrophy (DMD). Using multiparametric magnetic resonance (MR) techniques, we compared the skeletal and cardiac muscles of two different dystrophic mouse models of DMD, which are on different genetic backgrounds, the C57BL/10ScSn-Dmdmdx (B10-mdx) and D2.B10-Dmdmdx (D2-mdx). The proton transverse relaxation constant (T ) using both MR imaging and spectroscopy revealed significant age-related differences in dystrophic skeletal and cardiac muscles as compared with their age-matched controls. D2-mdx muscles demonstrated an earlier and accelerated decrease in muscle T compared with age-matched B10-mdx muscles. Diffusion-weighted MR imaging indicated differences in the underlying muscle structure between the mouse strains. The fractional anisotropy, mean diffusion, and radial diffusion of water varied significantly between the two dystrophic strains. Muscle structural differences were confirmed by histological analyses of the gastrocnemius, revealing a decreased muscle fiber size and increased fibrosis in skeletal muscle fibers of D2-mdx mice compared with B10-mdx and control. Cardiac involvement was also detected in D2-mdx myocardium based on both decreased function and myocardial T . These data indicate that MR parameters may be used as sensitive biomarkers to detect fibrotic tissue deposition and fiber atrophy in dystrophic strains.
[Mh] Termos MeSH primário: Patrimônio Genético
Músculo Esquelético/diagnóstico por imagem
Distrofia Muscular Animal/diagnóstico por imagem
[Mh] Termos MeSH secundário: Animais
Progressão da Doença
Imagem por Ressonância Magnética
Masculino
Camundongos
Camundongos Endogâmicos mdx
Distrofia Muscular Animal/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170823
[St] Status:MEDLINE


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[PMID]:28801232
[Au] Autor:Mamantopoulos M; Ronchi F; Van Hauwermeiren F; Vieira-Silva S; Yilmaz B; Martens L; Saeys Y; Drexler SK; Yazdi AS; Raes J; Lamkanfi M; McCoy KD; Wullaert A
[Ad] Endereço:Department of Internal Medicine, Ghent University, Ghent, Belgium; VIB-UGent Center for Inflammation Research, VIB, Ghent, Belgium.
[Ti] Título:Nlrp6- and ASC-Dependent Inflammasomes Do Not Shape the Commensal Gut Microbiota Composition.
[So] Source:Immunity;47(2):339-348.e4, 2017 Aug 15.
[Is] ISSN:1097-4180
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The gut microbiota regulate susceptibility to multiple human diseases. The Nlrp6-ASC inflammasome is widely regarded as a hallmark host innate immune axis that shapes the gut microbiota composition. This notion stems from studies reporting dysbiosis in mice lacking these inflammasome components when compared with non-littermate wild-type animals. Here, we describe microbial analyses in inflammasome-deficient mice while minimizing non-genetic confounders using littermate-controlled Nlrp6-deficient mice and ex-germ-free littermate-controlled ASC-deficient mice that were all allowed to shape their gut microbiota naturally after birth. Careful microbial phylogenetic analyses of these cohorts failed to reveal regulation of the gut microbiota composition by the Nlrp6- and ASC-dependent inflammasomes. Our results obtained in two geographically separated animal facilities dismiss a generalizable impact of Nlrp6- and ASC-dependent inflammasomes on the composition of the commensal gut microbiota and highlight the necessity for littermate-controlled experimental design in assessing the influence of host immunity on gut microbial ecology.
[Mh] Termos MeSH primário: Proteínas Reguladoras de Apoptose/metabolismo
Bactérias/genética
Colite/imunologia
Disbiose/imunologia
Microbioma Gastrointestinal/imunologia
Inflamassomos/metabolismo
Receptores de Superfície Celular/metabolismo
[Mh] Termos MeSH secundário: Animais
Proteínas Adaptadoras de Sinalização CARD
Células Cultivadas
Colite/induzido quimicamente
Colite/microbiologia
Disbiose/microbiologia
Feminino
Patrimônio Genético
Imunidade Inata
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Microbiota
RNA Ribossômico 16S/análise
Receptores de Superfície Celular/genética
Dodecilsulfato de Sódio
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (CARD Signaling Adaptor Proteins); 0 (Inflammasomes); 0 (Nod-like receptor pyrin domain-containing protein 6, mouse); 0 (Pycard protein, mouse); 0 (RNA, Ribosomal, 16S); 0 (Receptors, Cell Surface); 368GB5141J (Sodium Dodecyl Sulfate)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170813
[St] Status:MEDLINE


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[PMID]:28666345
[Au] Autor:Szczepanek-Parulska E; Zybek-Kocik A; Wartofsky L; Ruchala M
[Ad] Endereço:Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
[Ti] Título:Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
[So] Source:J Clin Endocrinol Metab;102(9):3124-3137, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Thyroid hemiagenesis (THA) constitutes a rare, congenital disorder that is characterized by an absence of one thyroid lobe. Because the pathogenesis and clinical significance of this malformation remain undefined, specific clinical recommendations are lacking, especially for asymptomatic cases. Evidence Acquisition: The PubMed database was searched (years 1970 to 2017), and the following terms were used to retrieve the results: "thyroid hemiagenesis," "thyroid hemiaplasia," "one thyroid lobe agenesis," and "one thyroid lobe aplasia." Subsequently, reference sections of the retrieved articles were searched. Evidence Synthesis: There is a noticeable susceptibility of subjects with THA to develop additional thyroid and nonthyroidal pathologies. In pathogenesis of concomitant thyroid pathologies, a chronic elevation in thyroid-stimulating hormone values may play an important role. Thus far, genetic studies failed to find a common genetic background of the anomaly, and the potential underlying cause was identified in a minority of the cases. Conclusions: Patients with THA are prone to develop additional thyroid pathologies and theoretically might benefit from l-thyroxine treatment to lower the thyrotropin levels to those observed in the normal population. However, further research should be done to ascertain whether such intervention early in life would prevent development of associated thyroid conditions. At least, increased vigilance should be maintained to reveal all of the concomitant disorders as soon as possible during follow-up examinations. Application of high-throughput technologies enabling a genome-wide search for novel factors involved in thyroid embryogenesis might be the next step to expand the knowledge on THA pathogenesis.
[Mh] Termos MeSH primário: Patrimônio Genético
Predisposição Genética para Doença/epidemiologia
Disgenesia da Tireoide/epidemiologia
Disgenesia da Tireoide/patologia
[Mh] Termos MeSH secundário: Animais
Proteínas de Ligação a DNA/genética
Feminino
Seres Humanos
Incidência
Masculino
Camundongos
Mutação
Fator de Transcrição PAX8/genética
Prognóstico
Complexo de Endopeptidases do Proteassoma/genética
Doenças Raras
Medição de Risco
Índice de Gravidade de Doença
Disgenesia da Tireoide/diagnóstico por imagem
Disgenesia da Tireoide/tratamento farmacológico
Testes de Função Tireóidea
Neoplasias da Glândula Tireoide/genética
Neoplasias da Glândula Tireoide/patologia
Tiroxina/uso terapêutico
Fatores de Transcrição
Ultrassonografia Doppler/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (TTF1 protein, human); 0 (Transcription Factors); EC 3.4.25.1 (Proteasome Endopeptidase Complex); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00784


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[PMID]:28379029
[Au] Autor:Tichý L; Fajkusová L; Zapletalová P; Schwarzová L; Vrablík M; Freiberger T
[Ad] Endereço:Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. tomas.freiberger@cktch.cz.
[Ti] Título:Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
[So] Source:Physiol Res;66(Supplementum 1):S47-S54, 2017 Apr 05.
[Is] ISSN:1802-9973
[Cp] País de publicação:Czech Republic
[La] Idioma:eng
[Ab] Resumo:Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. So far we have found 432 patients (11.0 %) with the APOB gene mutation p.(Arg3527Gln) and 864 patients (22.1 %) with the LDLR gene mutation. In 864 probands carrying the LDLR gene mutation, 182 unique allelic variants were detected. We have identified 14 patients homozygous for mutations in the LDLR or APOB genes. We performed function analyses of p.(Leu15Pro) and p.(Gly20Arg) sequence variations.
[Mh] Termos MeSH primário: Apolipoproteína B-100/genética
Patrimônio Genético
Hiperlipoproteinemia Tipo II/epidemiologia
Hiperlipoproteinemia Tipo II/genética
Receptores de LDL/genética
[Mh] Termos MeSH secundário: LDL-Colesterol/sangue
LDL-Colesterol/genética
República Tcheca/epidemiologia
Variação Genética/genética
Seres Humanos
Hiperlipoproteinemia Tipo II/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (APOB protein, human); 0 (Apolipoprotein B-100); 0 (Cholesterol, LDL); 0 (LDLR protein, human); 0 (Receptors, LDL)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:28334820
[Au] Autor:Ament SA; Pearl JR; Grindeland A; St Claire J; Earls JC; Kovalenko M; Gillis T; Mysore J; Gusella JF; Lee JM; Kwak S; Howland D; Lee MY; Baxter D; Scherler K; Wang K; Geman D; Carroll JB; MacDonald ME; Carlson G; Wheeler VC; Price ND; Hood LE
[Ad] Endereço:Institute for Systems Biology, Seattle, WA, USA.
[Ti] Título:High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
[So] Source:Hum Mol Genet;26(5):913-922, 2017 Mar 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in understanding the disease progression that leads from the HD mutation to massive cell death in the striatum is the ability to characterize the subtle and early functional consequences of the CAG expansion longitudinally. We used dense time course sampling between 4 and 20 postnatal weeks to characterize early transcriptomic, molecular and cellular phenotypes in the striatum of six distinct knock-in mouse models of the HD mutation. We studied the effects of the HttQ111 allele on the C57BL/6J, CD-1, FVB/NCr1, and 129S2/SvPasCrl genetic backgrounds, and of two additional alleles, HttQ92 and HttQ50, on the C57BL/6J background. We describe the emergence of a transcriptomic signature in HttQ111/+ mice involving hundreds of differentially expressed genes and changes in diverse molecular pathways. We also show that this time course spanned the onset of mutant huntingtin nuclear localization phenotypes and somatic CAG-length instability in the striatum. Genetic background strongly influenced the magnitude and age at onset of these effects. This work provides a foundation for understanding the earliest transcriptional and molecular changes contributing to HD pathogenesis.
[Mh] Termos MeSH primário: Corpo Estriado/metabolismo
Proteína Huntingtina/genética
Doença de Huntington/genética
Expansão das Repetições de Trinucleotídeos/genética
[Mh] Termos MeSH secundário: Animais
Corpo Estriado/patologia
Modelos Animais de Doenças
Regulação da Expressão Gênica no Desenvolvimento
Técnicas de Introdução de Genes
Patrimônio Genético
Instabilidade Genômica/genética
Seres Humanos
Proteína Huntingtina/biossíntese
Doença de Huntington/patologia
Camundongos
Mutação/genética
Neurônios/metabolismo
Neurônios/patologia
Fenótipo
Transcriptoma/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Htt protein, mouse); 0 (Huntingtin Protein)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx006


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[PMID]:28288157
[Au] Autor:Vibert J; Thomas-Vaslin V
[Ad] Endereço:Sorbonne Universités, UPMC Univ Paris 06, INSERM, Immunology-Immunopathology-Immunotherapy (I3) UMRS959; Paris, France.
[Ti] Título:Modelling T cell proliferation: Dynamics heterogeneity depending on cell differentiation, age, and genetic background.
[So] Source:PLoS Comput Biol;13(3):e1005417, 2017 Mar.
[Is] ISSN:1553-7358
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cell proliferation is the common characteristic of all biological systems. The immune system insures the maintenance of body integrity on the basis of a continuous production of diversified T lymphocytes in the thymus. This involves processes of proliferation, differentiation, selection, death and migration of lymphocytes to peripheral tissues, where proliferation also occurs upon antigen recognition. Quantification of cell proliferation dynamics requires specific experimental methods and mathematical modelling. Here, we assess the impact of genetics and aging on the immune system by investigating the dynamics of proliferation of T lymphocytes across their differentiation through thymus and spleen in mice. Our investigation is based on single-cell multicolour flow cytometry analysis revealing the active incorporation of a thymidine analogue during S phase after pulse-chase-pulse experiments in vivo, versus cell DNA content. A generic mathematical model of state transition simulates through Ordinary Differential Equations (ODEs) the evolution of single cell behaviour during various durations of labelling. It allows us to fit our data, to deduce proliferation rates and estimate cell cycle durations in sub-populations. Our model is simple and flexible and is validated with other durations of pulse/chase experiments. Our results reveal that T cell proliferation is highly heterogeneous but with a specific "signature" that depends upon genetic origins, is specific to cell differentiation stages in thymus and spleen and is altered with age. In conclusion, our model allows us to infer proliferation rates and cell cycle phase durations from complex experimental 5-ethynyl-2'-deoxyuridine (EdU) data, revealing T cell proliferation heterogeneity and specific signatures.
[Mh] Termos MeSH primário: Diferenciação Celular/genética
Proliferação Celular/genética
Senescência Celular/genética
Modelos Genéticos
Linfócitos T/citologia
Linfócitos T/imunologia
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular/imunologia
Células Cultivadas
Senescência Celular/imunologia
Simulação por Computador
Patrimônio Genético
Fenômenos Imunogenéticos/genética
Camundongos
Modelos Imunológicos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pcbi.1005417



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