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Pesquisa : A11.284.187.520.300.235.245 [Categoria DeCS]
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[PMID]:29390452
[Au] Autor:Liu G; Wen Z; Lu X; Kim YM; Wang X; Crew RM; Cherry MA; Li S; Liu Y
[Ad] Endereço:Department of Gastroenterology.
[Ti] Título:Coexistence of t(2;14;11)(p16.1;q32;q23) and t(14;19)(q32;q13.3) chromosome translocations in a patient with chronic lymphocytic leukemia: A case report.
[So] Source:Medicine (Baltimore);96(51):e9169, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: With combination of multiple techniques, we have successfully characterized unique, complex chromosomal changes in a patient with chronic lymphocytic leukemia (CLL), a lymphoproliferative disorder. DIAGNOSES: The diagnosis was based on white blood cell, flow cytometry, and immunophenotypes and confirmed by karyotype, fluorescence in situ hybridization, and array comparative genomic hybridization from the patient's blood culture. INTERVENTIONS: The patient was given fludarabine, cyclophosphamide and rituximab (FCR) for 6 cycles. OUTCOMES: After completion of 6 cycles of FCR, the computed tomography scans of the neck/chest/abdomen/pelvic showed that the patient in CR. During the 10-month follow-up, the patient's clinical course remained uneventful. LESSONS: The translocation t(14;19) identified in this patient is a recurrent translocation found in patients with chronic B-cell lymphoproliferative disorders and the 3-way translocation involving chromosomes 2, 14, and 11 may play a role as an enhancer.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11
Cromossomos Humanos Par 14
Cromossomos Humanos Par 2
Leucemia Linfocítica Crônica de Células B/genética
Translocação Genética
[Mh] Termos MeSH secundário: Adulto
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
Ciclofosfamida/administração & dosagem
Feminino
Seres Humanos
Leucemia Linfocítica Crônica de Células B/tratamento farmacológico
Rituximab/administração & dosagem
Vidarabina/administração & dosagem
Vidarabina/análogos & derivados
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
4F4X42SYQ6 (Rituximab); 8N3DW7272P (Cyclophosphamide); FA2DM6879K (Vidarabine); P2K93U8740 (fludarabine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009169


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[PMID]:29298444
[Au] Autor:Niida Y; Inoue M; Ozaki M; Takase E
[Ad] Endereço:Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan.
[Ti] Título:Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
[So] Source:Cytogenet Genome Res;153(2):56-65, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included GLI3, GCK, and CCM2. Each patient manifests a different phenotype which is associated with different functions of each GLI gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA/R balance model that may explain these findings.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Acrocefalossindactilia/genética
Cromossomos Humanos Par 2/ultraestrutura
Cromossomos Humanos Par 7/ultraestrutura
Proteínas do Tecido Nervoso/deficiência
Proteínas Nucleares/deficiência
Proteína Gli2 com Dedos de Zinco/deficiência
Proteína Gli3 com Dedos de Zinco/deficiência
[Mh] Termos MeSH secundário: Adolescente
Pré-Escolar
Cromossomos Humanos Par 2/genética
Cromossomos Humanos Par 7/genética
Fissura Palatina/genética
Nanismo/genética
Feminino
Intolerância à Glucose/genética
Proteínas Hedgehog/fisiologia
Hemangioma Cavernoso do Sistema Nervoso Central/genética
Seres Humanos
Deficiência Intelectual/genética
Cariotipagem
Modelos Biológicos
Morfogênese/genética
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/fisiologia
Proteínas Nucleares/genética
Proteínas Nucleares/fisiologia
Análise de Sequência com Séries de Oligonucleotídeos
Fenótipo
Deleção de Sequência
Transdução de Sinais/genética
Síndrome
Proteína Gli2 com Dedos de Zinco/genética
Proteína Gli2 com Dedos de Zinco/fisiologia
Proteína Gli3 com Dedos de Zinco/genética
Proteína Gli3 com Dedos de Zinco/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GLI2 protein, human); 0 (GLI3 protein, human); 0 (Hedgehog Proteins); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins); 0 (SHH protein, human); 0 (Zinc Finger Protein Gli2); 0 (Zinc Finger Protein Gli3)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180104
[St] Status:MEDLINE
[do] DOI:10.1159/000485227


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[PMID]:28470677
[Au] Autor:Tang H; Wei P; Chang P; Li Y; Yan D; Liu C; Hassan M; Li D
[Ad] Endereço:Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX.
[Ti] Título:Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study.
[So] Source:Int J Cancer;141(4):678-686, 2017 08 15.
[Is] ISSN:1097-0215
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Previous findings on the association of genetic factors and pancreatic cancer survival are limited and inconsistent. In a two-stage study, we analyzed the existing genome-wide association study dataset of 868 pancreatic cancer patients from MD Anderson Cancer Center in relation to overall survival using Cox regression. Top hits were selected for replication in another 820 patients from the same institution using the Taqman genotyping method. Functional annotation, pathway analysis and gene expression analysis were conducted using existing software and databases. We discovered genome-wide significant associations of patient survival with three imputed SNPs which, in complete LD (r = 1), were intronic SNPs of the PAIP2B (rs113988120) and DYSF genes (rs112493246 and rs138529893) located on Chromosome 2. The variant alleles were associated with a 3.06-fold higher risk of death [95% confidence interval (CI) = 2.10-4.47, p=6.4 × 10-9] after adjusting for clinical factors. Eleven SNPs were tested in the replication study and the association of rs113988120 with survival was confirmed (hazard ratio: 1.57, 95% CI: 1.13-2.20,  p=0.008). In silico analysis found rs1139988120 might lead to altered motif. This locus is in LD (D' = 0.77) with three eQTL SNPs near or belong to the NAGK and MCEE genes. According to The Cancer Genome Atlas data and our previous RNA-sequencing data, the mRNA expression level of PAIP2B but not NAGK, MCEE or DYSF was significantly lower in pancreatic tumors than in normal adjacent tissues. Additional validation efforts and functional studies are warranted to demonstrate whether PAIP2B is a novel tumor suppressor gene and a potential therapeutic target for pancreatic cancer.
[Mh] Termos MeSH primário: Regulação para Baixo
Neoplasias Pancreáticas/genética
Polimorfismo de Nucleotídeo Único
Proteínas Repressoras/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Cromossomos Humanos Par 2/genética
Disferlina
Feminino
Regulação Neoplásica da Expressão Gênica
Genes Supressores de Tumor
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Seres Humanos
Masculino
Proteínas de Membrana/genética
Meia-Idade
Proteínas Musculares/genética
Análise de Regressão
Análise de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DYSF protein, human); 0 (Dysferlin); 0 (Membrane Proteins); 0 (Muscle Proteins); 0 (Repressor Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1002/ijc.30762


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[PMID]:28859103
[Au] Autor:Blanchet P; Bebin M; Bruet S; Cooper GM; Thompson ML; Duban-Bedu B; Gerard B; Piton A; Suckno S; Deshpande C; Clowes V; Vogt J; Turnpenny P; Williamson MP; Alembik Y; Glasgow E; McNeill A; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium
[Ad] Endereço:Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier Cedex 5, France.
[Ti] Título:MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
[So] Source:PLoS Genet;13(8):e1006957, 2017 Aug.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deletion at 2p25.3. To examine this we sought MYT1L SNVs in exome sequencing data from 4, 296 parent-child trios. Further variants were identified through a genematcher-facilitated collaboration. We report 9 patients with MYT1L SNVs (4 loss of function and 5 missense). The phenotype of SNV carriers overlapped with that of 2p25.3 deletion carriers. To identify the transcriptomic consequences of MYT1L loss of function we used CRISPR-Cas9 to create a knockout cell line. Gene Ontology analysis in knockout cells demonstrated altered expression of genes that regulate gene expression and that are localized to the nucleus. These differentially expressed genes were enriched for OMIM disease ontology terms "mental retardation". To study the developmental effects of MYT1L loss of function we created a zebrafish knockdown using morpholinos. Knockdown zebrafish manifested loss of oxytocin expression in the preoptic neuroendocrine area. This study demonstrates that MYT1L variants are associated with syndromic obesity in humans. The mechanism is related to dysregulated expression of neurodevelopmental genes and altered development of the neuroendocrine hypothalamus.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica/genética
Hipotálamo/fisiologia
Deficiência Intelectual/genética
Proteínas do Tecido Nervoso/genética
Obesidade/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adulto
Animais
Sistemas CRISPR-Cas
Linhagem Celular
Criança
Deleção Cromossômica
Cromossomos Humanos Par 2/genética
Feminino
Técnicas de Inativação de Genes
Seres Humanos
Hipotálamo/metabolismo
Hipotálamo/patologia
Deficiência Intelectual/fisiopatologia
Masculino
Mutação
Obesidade/fisiopatologia
Polimorfismo de Nucleotídeo Único/genética
Peixe-Zebra
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MYT1L protein, human); 0 (Nerve Tissue Proteins); 0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006957


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[PMID]:28750074
[Au] Autor:Böhm A; Wagner R; Machicao F; Holst JJ; Gallwitz B; Stefan N; Fritsche A; Häring HU; Staiger H
[Ad] Endereço:Department of Internal Medicine, Division of Endocrinology, Diabetology, Angiology, Nephrology and Clinical Chemistry, Eberhard Karls University Tübingen, Tübingen, Germany.
[Ti] Título:DPP4 gene variation affects GLP-1 secretion, insulin secretion, and glucose tolerance in humans with high body adiposity.
[So] Source:PLoS One;12(7):e0181880, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Dipeptidyl-peptidase 4 (DPP-4) cleaves and inactivates the insulinotropic hormones glucagon-like peptide 1 (GLP-1) and gastric inhibitory polypeptide, collectively termed incretins. DPP-4 inhibitors entered clinical practice as approved therapeutics for type-2 diabetes in 2006. However, inter-individual variance in the responsiveness to DPP-4 inhibitors was reported. Thus, we asked whether genetic variation in the DPP4 gene affects incretin levels, insulin secretion, and glucose tolerance in participants of the TÜbingen Family study for type-2 diabetes (TÜF). RESEARCH DESIGN AND METHODS: Fourteen common (minor allele frequencies ≥0.05) DPP4 tagging single nucleotide polymorphisms (SNPs) were genotyped in 1,976 non-diabetic TÜF participants characterized by oral glucose tolerance tests and bioimpedance measurements. In a subgroup of 168 subjects, plasma incretin levels were determined. RESULTS: We identified a variant, i.e., SNP rs6741949, in intron 2 of the DPP4 gene that, after correction for multiple comparisons and appropriate adjustment, revealed a significant genotype-body fat interaction effect on glucose-stimulated plasma GLP-1 levels (p = 0.0021). Notably, no genotype-BMI interaction effects were detected (p = 0.8). After stratification for body fat content, the SNP negatively affected glucose-stimulated GLP-1 levels (p = 0.0229), insulin secretion (p = 0.0061), and glucose tolerance (p = 0.0208) in subjects with high body fat content only. CONCLUSIONS: A common variant, i.e., SNP rs6741949, in the DPP4 gene interacts with body adiposity and negatively affects glucose-stimulated GLP-1 levels, insulin secretion, and glucose tolerance. Whether this SNP underlies the reported inter-individual variance in responsiveness to DPP-4 inhibitors, at least in subjects with high body fat content, remains to be shown.
[Mh] Termos MeSH primário: Adiposidade/genética
Dipeptidil Peptidase 4/genética
Peptídeo 1 Semelhante ao Glucagon/secreção
Insulina/secreção
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Adulto
Glicemia/metabolismo
Cromossomos Humanos Par 2/genética
Jejum/sangue
Feminino
Estudos de Associação Genética
Loci Gênicos
Teste de Tolerância a Glucose
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Glucose); 0 (Insulin); 89750-14-1 (Glucagon-Like Peptide 1); EC 3.4.14.5 (DPP4 protein, human); EC 3.4.14.5 (Dipeptidyl Peptidase 4)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0181880


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[PMID]:28739399
[Au] Autor:Cai XY; Zheng XD; Fang L; Zhou FS; Sheng YJ; Wu YY; Yu CX; Zhu J; Xiao FL
[Ad] Endereço:Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China; State key Laboratory Incubation Base of Dermatology, Anhui M
[Ti] Título:A variant on chromosome 2p13.3 is associated with atopic dermatitis in Chinese Han population.
[So] Source:Gene;628:281-285, 2017 Sep 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Multi-ancestry genome-wide association study (GWAS) has recently identified 11 new susceptibility loci for Atopic dermatitis (AD). The replication of these new susceptibility loci in different populations should not be ignored. OBJECTIVE: To examine whether these 11 new identified susceptibility loci are also associated with AD in the Chinese Han population. METHODS: These 11 variants were imputed using our genome-wide array dataset. The selected SNPs with suggestive signals were genotyped in a large-scale replication study with a total of 4619 cases and 10,789 controls using the Sequenom Massarray system. Association analyses were performed using PLINK 1.07 software. Results were combined across our previous AD-GWAS stage and the replication stage by meta-analysis. Bioinformatic analysis was done to predict the possible causal gene. RESULTS: Of the 11 SNPs investigated, four SNPs showed suggestive association (P<0.05) in our previously published GWAS datasets. Association evidence for an intergenic variant rs112111458 at 2p13.3 with AD was replicated in Chinese Han population (P=7.37×10 , OR=0.86), showing significance in Meta analysis of GWAS and replication study (P =8.18×10 , OR=0.69). Further functional annotation by HaploReg indicated that transcriptional regulation activity exists at this locus for the CD207 gene in skin tissue. CONCLUSIONS: Our study confirmed a previously reported susceptibility loci in the Chinese Han population, which implicates CD207 might be a new susceptibility gene for AD and highlights the crucial role of immune responses in AD.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 2
Dermatite Atópica/genética
Predisposição Genética para Doença
Variação Genética
Locos de Características Quantitativas
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Antígenos CD/genética
Estudos de Casos e Controles
Criança
Pré-Escolar
China
Biologia Computacional/métodos
Feminino
Estudos de Associação Genética
Estudo de Associação Genômica Ampla
Genótipo
Seres Humanos
Lactente
Recém-Nascido
Lectinas Tipo C/genética
Masculino
Lectinas de Ligação a Manose/genética
Meia-Idade
Polimorfismo de Nucleotídeo Único
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (CD207 protein, human); 0 (Lectins, C-Type); 0 (Mannose-Binding Lectins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE


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[PMID]:28715450
[Au] Autor:Giri A; Edwards TL; Hartmann KE; Torstenson ES; Wellons M; Schreiner PJ; Velez Edwards DR
[Ad] Endereço:Division of Epidemiology, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
[Ti] Título:African genetic ancestry interacts with body mass index to modify risk for uterine fibroids.
[So] Source:PLoS Genet;13(7):e1006871, 2017 Jul.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Race, specifically African ancestry, and obesity are important risk factors for uterine fibroids, and likely interact to provide the right conditions for fibroid growth. However, existing studies largely focus on the main-effects rather than their interaction. Here, we firstly provide evidence for interaction between categories of body mass index (BMI) and reported-race in relation to uterine fibroids. We then investigate whether the association between inferred local European ancestry and fibroid risk is modified by BMI in African American (AA) women in the Vanderbilt University Medical Center bio-repository (BioVU) (539 cases and 794 controls) and the Coronary Artery Risk Development in Young Adults study (CARDIA, 264 cases and 173 controls). We used multiple logistic regression to evaluate interactions between local European ancestry and BMI in relation to fibroid risk, then performed fixed effects meta-analysis. Statistical significance threshold for local-ancestry and BMI interactions was empirically estimated with 10,000 permutations (p-value = 1.18x10-4). Admixture mapping detected an association between European ancestry and fibroid risk which was modified by BMI (continuous-interaction p-value = 3.75x10-5) around ADTRP (chromosome 6p24); the strongest association was found in the obese category (ancestry odds ratio (AOR) = 0.51, p-value = 2.23x10-5). Evaluation of interaction between genotyped/imputed variants and BMI in this targeted region suggested race-specific interaction, present in AAs only; strongest evidence was found for insertion/deletion variant (6:11946435), again in the obese category (OR = 1.66, p-value = 1.72x10-6). We found nominal evidence for interaction between local ancestry and BMI at a previously reported region in chromosome 2q31-32, which includes COL5A2, and TFPI, an immediate downstream target of ADTRP. Interactions between BMI and SNPs (single nucleotide polymorphisms) found in this region in AA women were also detected in an independent European American population of 1,195 cases and 1,164 controls. Findings from our study provide an example of how modifiable and non-modifiable factors may interact to influence fibroid risk and suggest a biological role for BMI in fibroid etiology.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Africano/genética
Índice de Massa Corporal
Leiomioma/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adolescente
Adulto
Estudos de Casos e Controles
Mapeamento Cromossômico
Cromossomos Humanos Par 2/genética
Cromossomos Humanos Par 6/genética
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Técnicas de Genotipagem
Seres Humanos
Leiomioma/etnologia
Modelos Logísticos
Obesidade/complicações
Obesidade/genética
Estudos Prospectivos
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006871


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[PMID]:28365443
[Au] Autor:Liu X; Zhang M; Ying S; Zhang C; Lin R; Zheng J; Zhang G; Tian D; Guo Y; Du C; Chen Y; Chen S; Su X; Ji J; Deng W; Li X; Qiu S; Yan R; Xu Z; Wang Y; Guo Y; Cui J; Zhuang S; Yu H; Zheng Q; Marom M; Sheng S; Zhang G; Hu S; Li R; Su M
[Ad] Endereço:Institute of Clinical Pathology, Department of Pathology, Shantou University Medical College, Shantou, Guangdong, China.
[Ti] Título:Genetic Alterations in Esophageal Tissues From Squamous Dysplasia to Carcinoma.
[So] Source:Gastroenterology;153(1):166-177, 2017 Jul.
[Is] ISSN:1528-0012
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND & AIMS: Esophageal squamous cell carcinoma (ESCC) is the most common subtype of esophageal cancer. Little is known about the genetic changes that occur in esophageal cells during the development of ESCC. We performed next-generation sequence analyses of esophageal nontumor, intraepithelial neoplasia (IEN), and ESCC tissues from the same patients to track genetic changes during tumor development. METHODS: We performed whole-genome, whole-exome, or targeted sequence analyses of 227 esophageal tissue samples from 70 patients with ESCC undergoing resection at Shantou University Medical College in China from 2012 through 2015 (no patients had received chemotherapy or radiation therapy); we analyzed normal tissues, tissues with simple hyperplasia, dysplastic tissues (IEN), and ESCC tissues collected from different regions of the esophagus at the same time. We also obtained 1191 nontumor esophageal biopsy specimens from the Chaoshan region (a high-risk region for ESCC) of China (a high-risk region for ESCC) and performed immunohistochemical and histologic analyses to detect inflammation. RESULTS: IEN and ESCC tissues had similar mutations and copy number alterations, at similar frequencies; these differed from mutations detected in tissues with simple hyperplasia. IEN tissues had mutations associated with apolipoprotein B messenger RNA editing enzyme, catalytic polypeptide-like-mediated mutagenesis (a DNA damage mutational signature). Genetic analyses indicated that most ESCCs were formed from early stage IEN clones. Trunk mutations (mutations shared by >10% of paired IEN and ESCC tissues) were in genes that regulate DNA repair and cell apoptosis, proliferation and adhesion. Mutations in TP53 and CDKN2A and copy number alterations in 11q (contains CCND1), 3q (contains SOX2), 2q (contains NFE2L2), and 9p (contains CDKN2A) were considered to be trunk variants; these were dominant mutations detected at high frequencies in clones of paired IEN and ESCC samples. In the esophageal biopsy samples from high-risk individuals (residing in the Chaoshan region), 68.9% had an evidence of chronic inflammation; the level of inflammation was correlated with atypical cell structures and markers of DNA damage. CONCLUSIONS: We analyzed mutations and gene copy number changes in nontumor, IEN, and ESCC samples, collected from 70 patients. IEN and ESCCs each had similar mutations and markers of genomic instability, including apolipoprotein B messenger RNA editing enzyme, catalytic polypeptide-like. Genomic changes observed in precancerous lesions might be used to identify patients at risk for ESCC.
[Mh] Termos MeSH primário: Carcinoma in Situ/genética
Carcinoma de Células Escamosas/genética
Neoplasias Esofágicas/genética
Esofagite/metabolismo
Esôfago/patologia
[Mh] Termos MeSH secundário: Desaminases APOBEC/genética
Apoptose/genética
Adesão Celular/genética
Proliferação Celular/genética
Cromossomos Humanos Par 11/genética
Cromossomos Humanos Par 2/genética
Cromossomos Humanos Par 3/genética
Cromossomos Humanos Par 9/genética
Inibidor de Quinase Dependente de Ciclina p18/genética
Variações do Número de Cópias de DNA
Análise Mutacional de DNA
Reparo do DNA/genética
Esofagite/patologia
Esôfago/metabolismo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hiperplasia/genética
Fator 2 Relacionado a NF-E2/genética
Filogenia
Fatores de Transcrição SOXB1/genética
Proteína Supressora de Tumor p53/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CDKN2A protein, human); 0 (Cyclin-Dependent Kinase Inhibitor p18); 0 (NF-E2-Related Factor 2); 0 (NFE2L2 protein, human); 0 (SOX2 protein, human); 0 (SOXB1 Transcription Factors); 0 (Tumor Suppressor Protein p53); EC 3.5.4.5 (APOBEC Deaminases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170403
[St] Status:MEDLINE


  9 / 4074 MEDLINE  
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[PMID]:28333343
[Au] Autor:Chiatante G; Giannuzzi G; Calabrese FM; Eichler EE; Ventura M
[Ad] Endereço:Department of Biology, University of Bari "Aldo Moro", Bari, Italy.
[Ti] Título:Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.
[So] Source:Mol Biol Evol;34(7):1669-1681, 2017 Jul 01.
[Is] ISSN:1537-1719
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells. We investigate the most recent product of a chromosome fusion event fixed in the human lineage, human chromosome 2, whose stability was acquired by the suppression of one centromere, resulting in a unique difference in chromosome number between humans (46 chromosomes) and our most closely related ape relatives (48 chromosomes). Using molecular cytogenetics, sequencing, and comparative sequence data, we deeply characterize the relicts of the chromosome 2q ancestral centromere and its flanking regions, gaining insight into the ancestral organization that can be easily broadened to all acrocentric chromosome centromeres. Moreover, our analyses offered the opportunity to trace the evolutionary history of rDNA and satellite III sequences among great apes, thus suggesting a new hypothesis for the preferential inactivation of some human centromeres, including IIq. Our results suggest two possible centromere inactivation models to explain the evolutionarily stabilization of human chromosome 2 over the last 5-6 million years. Our results strongly favor centromere excision through a one-step process.
[Mh] Termos MeSH primário: Centrômero/genética
Cromossomos Humanos Par 2
[Mh] Termos MeSH secundário: Centrômero/fisiologia
DNA Antigo
Evolução Molecular
Seres Humanos
Translocação Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Ancient)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/molbev/msx108


  10 / 4074 MEDLINE  
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[PMID]:28108439
[Au] Autor:Codipilly DC; Gavrilova RH; Tangalos EG
[Ad] Endereço:Department of Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
[Ti] Título:De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.
[So] Source:BMJ Case Rep;2017, 2017 Jan 20.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients, mainly children, since 2007. This microdeletion syndrome is characterised by a heterogeneous expression of intellectual impairment, dysmorphic facies, musculoskeletal abnormalities and potential neurodevelopmental anomalies. We report the first case of natural progression in an adult patient who died at a young age of metastatic esophageal adenocarcinoma. Important learning points include the variable phenotypic expression of this microdeletion syndrome and the fact that clinicians must be thorough in investigating objective discrepancies in patients who cannot endorse classical symptoms.
[Mh] Termos MeSH primário: Adenocarcinoma/complicações
Neoplasias Ósseas/complicações
Deleção Cromossômica
Transtornos Cromossômicos/complicações
Neoplasias Esofágicas/complicações
[Mh] Termos MeSH secundário: Adenocarcinoma/secundário
Adulto
Neoplasias Ósseas/secundário
Transtornos Cromossômicos/genética
Cromossomos Humanos Par 2/genética
Epilepsia/complicações
Neoplasias Esofágicas/patologia
Esotropia/complicações
Facies
Transtornos Neurológicos da Marcha/complicações
Seres Humanos
Deficiência Intelectual/complicações
Masculino
Microcefalia/complicações
Hipotonia Muscular/complicações
Fenótipo
Polegar/anormalidades
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170309
[Lr] Data última revisão:
170309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170122
[St] Status:MEDLINE



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