Base de dados : MEDLINE
Pesquisa : A11.284.187.520.300.325.355 [Categoria DeCS]
Referências encontradas : 7697 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 770 ir para página                         

  1 / 7697 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  2 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29217025
[Au] Autor:Sannan NS; Gregory-Evans CY; Lyons CJ; Lehman AM; Langlois S; Warner SJ; Zakrzewski H; Gregory-Evans K
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, B.C.
[Ti] Título:Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
[So] Source:Can J Ophthalmol;52(6):570-577, 2017 Dec.
[Is] ISSN:1715-3360
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed. Foveal hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was performed and chromosomal 11p anomalies investigated. Candidate gene and single-nucleotide polymorphism sequencing in genes functionally related to PAX6 were also studied. RESULTS: Best corrected visual acuities in the cohort ranged from 0.0 logMAR to no light perception. Total absence of iris tissue was seen in the majority (42 of 66 eyes). In those in whom SD-OCT was possible, foveal hypoplasia was seen in the majority (45 of 56 eyes, 80%). Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region. CONCLUSIONS: The number of PAX6 mutations associated with aniridia continues to increase. Variable foveal architecture despite nearly identical anterior segment disease in 4 participants with an Ex9 ELP4-Ex4 DCDC1 deletion suggested that molecular cues causing variation in disease in the posterior segment differ from those at play in the anterior segment. Results in 3 patients without identifiable PAX6 mutations and a review of the literature suggest that such cases be described as phenocopies rather than actual cases of the syndrome of aniridia.
[Mh] Termos MeSH primário: Aniridia/diagnóstico
Aniridia/genética
Fóvea Central/anormalidades
Mutação
Fator de Transcrição PAX6/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Deleção Cromossômica
Cromossomos Humanos Par 11/genética
Estudos de Coortes
Feminino
Amplificação de Genes
Seres Humanos
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Fenótipo
Estudos Prospectivos
Reação em Cadeia da Polimerase em Tempo Real
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX6 Transcription Factor); 0 (PAX6 protein, human)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  3 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29061165
[Au] Autor:Takada Y; Sakai Y; Matsushita Y; Ohkubo K; Koga Y; Akamine S; Torio M; Ishizaki Y; Sanefuji M; Torisu H; Shaw CA; Kagami M; Hara T; Ohga S
[Ad] Endereço:Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
[Ti] Título:Sustained endocrine profiles of a girl with WAGR syndrome.
[So] Source:BMC Med Genet;18(1):117, 2017 Oct 23.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. CONCLUSIONS: Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11/genética
Hormônios/metabolismo
Deleção de Sequência
Síndrome WAGR/metabolismo
[Mh] Termos MeSH secundário: Pré-Escolar
Hibridização Genômica Comparativa
Metilação de DNA
Epigênese Genética
Feminino
Seres Humanos
Hipoglicemia
Síndrome WAGR/genética
Síndrome WAGR/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hormones)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171025
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0477-5


  4 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29059438
[Au] Autor:Takagi M; Yoshida M; Nemoto Y; Tamaichi H; Tsuchida R; Seki M; Uryu K; Nishii R; Miyamoto S; Saito M; Hanada R; Kaneko H; Miyano S; Kataoka K; Yoshida K; Ohira M; Hayashi Y; Nakagawara A; Ogawa S; Mizutani S; Takita J
[Ad] Endereço:Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, Graduate School of Medicine, Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, Laboratory of Sequence Analysis, Human Genome Cente
[Ti] Título:Loss of DNA Damage Response in Neuroblastoma and Utility of a PARP Inhibitor.
[So] Source:J Natl Cancer Inst;109(11), 2017 Nov 01.
[Is] ISSN:1460-2105
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Background: Neuroblastoma (NB) is the most common solid tumor found in children, and deletions within the 11q region are observed in 11% to 48% of these tumors. Notably, such tumors are associated with poor prognosis; however, little is known regarding the molecular targets located in 11q. Methods: Genomic alterations of ATM , DNA damage response (DDR)-associated genes located in 11q ( MRE11A, H2AFX , and CHEK1 ), and BRCA1, BARD1, CHEK2, MDM2 , and TP53 were investigated in 45 NB-derived cell lines and 237 fresh tumor samples. PARP (poly [ADP-ribose] polymerase) inhibitor sensitivity of NB was investigated in in vitro and invivo xenograft models. All statistical tests were two-sided. Results: Among 237 fresh tumor samples, ATM, MRE11A, H2AFX , and/or CHEK1 loss or imbalance in 11q was detected in 20.7% of NBs, 89.8% of which were stage III or IV. An additional 7.2% contained ATM rare single nucleotide variants (SNVs). Rare SNVs in DDR-associated genes other than ATM were detected in 26.4% and were mutually exclusive. Overall, samples with SNVs and/or copy number alterations in these genes accounted for 48.4%. ATM-defective cells are known to exhibit dysfunctions in homologous recombination repair, suggesting a potential for synthetic lethality by PARP inhibition. Indeed, 83.3% NB-derived cell lines exhibited sensitivity to PARP inhibition. In addition, NB growth was markedly attenuated in the xenograft group receiving PARP inhibitors (sham-treated vs olaprib-treated group; mean [SD] tumor volume of sham-treated vs olaprib-treated groups = 7377 [1451] m 3 vs 298 [312] m 3 , P = .001, n = 4). Conclusions: Genomic alterations of DDR-associated genes including ATM, which regulates homologous recombination repair, were observed in almost half of NBs, suggesting that synthetic lethality could be induced by treatment with a PARP inhibitor. Indeed, DDR-defective NB cell lines were sensitive to PARP inhibitors. Thus, PARP inhibitors represent candidate NB therapeutics.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11
Reparo do DNA
Deleção de Genes
Neuroblastoma/tratamento farmacológico
Neuroblastoma/genética
Ftalazinas/uso terapêutico
Piperazinas/uso terapêutico
Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico
[Mh] Termos MeSH secundário: Animais
Proteínas Mutadas de Ataxia Telangiectasia/genética
Linhagem Celular Tumoral
Quinase do Ponto de Checagem 1/genética
Quinase do Ponto de Checagem 2/genética
Criança
Dano ao DNA
Proteínas de Ligação a DNA/genética
Xenoenxertos
Histonas/genética
Seres Humanos
Proteína Homóloga a MRE11
Camundongos
Neuroblastoma/mortalidade
Neuroblastoma/patologia
Proteínas Proto-Oncogênicas c-mdm2/genética
Proteína Supressora de Tumor p53/genética
Proteínas Supressoras de Tumor/genética
Ubiquitina-Proteína Ligases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (H2AFX protein, human); 0 (Histones); 0 (MRE11A protein, human); 0 (Phthalazines); 0 (Piperazines); 0 (Poly(ADP-ribose) Polymerase Inhibitors); 0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53); 0 (Tumor Suppressor Proteins); EC 2.3.2.27 (BARD1 protein, human); EC 2.3.2.27 (BRAP protein, human); EC 2.3.2.27 (MDM2 protein, human); EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2); EC 2.3.2.27 (Ubiquitin-Protein Ligases); EC 2.7.1.11 (Checkpoint Kinase 2); EC 2.7.11.1 (ATM protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins); EC 2.7.11.1 (CHEK1 protein, human); EC 2.7.11.1 (CHEK2 protein, human); EC 2.7.11.1 (Checkpoint Kinase 1); EC 3.1.- (MRE11 Homologue Protein); WOH1JD9AR8 (olaparib)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171024
[St] Status:MEDLINE
[do] DOI:10.1093/jnci/djx062


  5 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29047350
[Au] Autor:Bedeschi MF; Calvello M; Paganini L; Pezzani L; Baccarin M; Fontana L; Sirchia SM; Guerneri S; Canazza L; Leva E; Colombo L; Lalatta F; Mosca F; Tabano S; Miozzo M
[Ad] Endereço:Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. mariafrancesca.bedeschi@policlinico.mi.it.
[Ti] Título:Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
[So] Source:BMC Med Genet;18(1):115, 2017 Oct 18.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated. METHODS: Given the tight relationship with BWS, we hypothesized that the isolated form of the omphalocele could belong to the heterogeneous spectrum of the BWS associated features, representing an endophenotype with a clear genetic connection. We therefore investigated genetic and epigenetic changes affecting BWS imprinted locus at 11p15.5 imprinted region, focusing in particular on the KCNQ1OT1:TSS DMR. RESULTS: We studied 21 cases of isolated omphalocele detected during pregnancy or at birth and identified the following rare maternally inherited variants: i) the non-coding variant G > A at nucleotide 687 (NR_002728.3) at KCNQ1OT1:TSS-DMR, which alters the methylation pattern of the imprinted allele, in one patient; ii) the deletion c.624-629delGGCCCC at exon 1 of CDKN1C, with unknown clinical significance, in two unrelated cases. CONCLUSIONS: Taken together, these findings suggest that KCNQ1OT1:TSS-DMR could be a susceptibility locus for the isolated omphalocele.
[Mh] Termos MeSH primário: Metilação de DNA
Variação Genética
Hérnia Umbilical/genética
Sítio de Iniciação de Transcrição
[Mh] Termos MeSH secundário: Sequência de Bases
Síndrome de Beckwith-Wiedemann/genética
Síndrome de Beckwith-Wiedemann/patologia
Pré-Escolar
Cromossomos Humanos Par 11/genética
Consanguinidade
Inibidor de Quinase Dependente de Ciclina p57/genética
Análise Mutacional de DNA/métodos
Feminino
Predisposição Genética para Doença/genética
Impressão Genômica
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutação
Linhagem
Polimorfismo de Nucleotídeo Único
Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética
Deleção de Sequência
Homologia de Sequência do Ácido Nucleico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CDKN1C protein, human); 0 (Cyclin-Dependent Kinase Inhibitor p57); 0 (KCNQ1OT1 protein, human); 0 (Potassium Channels, Voltage-Gated)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171020
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0470-z


  6 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28886043
[Au] Autor:Poninska JK; Samolinski B; Tomaszewska A; Raciborski F; Samel-Kowalik P; Walkiewicz A; Lipiec A; Piekarska B; Krzych-Falta E; Namyslowski A; Kostrzewa G; Pawlik A; Jasek M; Wisniewski A; Kusnierczyk P; Majewski S; Ploski R
[Ad] Endereço:Department of Medical Biology, Institute of Cardiology, Warsaw, Poland.
[Ti] Título:Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort.
[So] Source:PLoS One;12(9):e0183922, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The T allele of rs7927894 (at 11q13.5) was associated with atopic dermatitis and other allergic diseases. Our purpose was to replicate the association with allergic phenotypes and explore the role of rs7927894 in predisposing to persistent allergic rhinitis and atopic asthma. We also wanted to explore if other SNPs at 11q13.5 contributed to effect of rs7927894. We studied patients with atopic dermatitis (N = 270), atopic asthma (N = 486), persistent allergic rhinitis (N = 589) and controls matched for age, sex and region (N = 540, N = 372 and N = 1178, respectively). We found that rs7927894 T was associated with atopic dermatitis (OR = 1.39, CI: 1.12-1.73, P = 0.003) and independently with persistent allergic rhinitis (OR = 1.24, CI:1.07-1.43, P = 0.0043, Pcorrected = 0.013) but not atopic asthma. Analysis of additional tagging SNPs (rs7930763, rs2513517, rs7125552) showed that effect of rs7927894 T was limited to haplotypes encoding G at rs7125552. In conclusion, rs7927894 T is associated not only with atopic dermatitis but also persistent allergic rhinitis. Since these effects are haplotype dependent rs7927894 alone does not account for the association between 11q13.5 and atopic dermatitis/persistent allergic rhinitis.
[Mh] Termos MeSH primário: Alelos
Cromossomos Humanos Par 11
Dermatite Atópica/genética
Estudos de Associação Genética
Predisposição Genética para Doença
Haplótipos
Rinite Alérgica/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos de Casos e Controles
Doença Crônica
Feminino
Seres Humanos
Masculino
Meia-Idade
Razão de Chances
Polimorfismo de Nucleotídeo Único
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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.0183922


  7 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28854430
[Au] Autor:Thibodeau ML; Steinraths M; Brown L; Zong Z; Shomer N; Taubert S; Mungall KL; Ma YP; Mueller R; Birol I; Lehman A
[Ad] Endereço:Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
[Ti] Título:Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.
[So] Source:Cytogenet Genome Res;152(3):117-121, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.
[Mh] Termos MeSH primário: Angiomiolipoma/genética
Cromossomos Humanos Par 11/genética
Cromossomos Humanos Par 12/genética
Neoplasias Renais/genética
Complexo de Proteínas Formadoras de Poros Nucleares/genética
Translocação Genética
[Mh] Termos MeSH secundário: Adulto
Amniocentese
Análise Citogenética/métodos
Feminino
Proteínas Ligadas por GPI/genética
Estudo de Associação Genômica Ampla
Genômica/métodos
Seres Humanos
Peptídeos e Proteínas de Sinalização Intercelular/genética
Proteínas de Neoplasias/genética
Regiões Promotoras Genéticas
Pseudogenes
Sítio de Iniciação de Transcrição
Esclerose Tuberosa/diagnóstico
Esclerose Tuberosa/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GPI-Linked Proteins); 0 (Intercellular Signaling Peptides and Proteins); 0 (Neoplasm Proteins); 0 (Nuclear Pore Complex Proteins); 0 (Nup98 protein, human); 0 (TDGF1 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170831
[St] Status:MEDLINE
[do] DOI:10.1159/000479463


  8 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28777932
[Au] Autor:Betts JA; Moradi Marjaneh M; Al-Ejeh F; Lim YC; Shi W; Sivakumaran H; Tropée R; Patch AM; Clark MB; Bartonicek N; Wiegmans AP; Hillman KM; Kaufmann S; Bain AL; Gloss BS; Crawford J; Kazakoff S; Wani S; Wen SW; Day B; Möller A; Cloonan N; Pearson J; Brown MA; Mercer TR; Waddell N; Khanna KK; Dray E; Dinger ME; Edwards SL; French JD
[Ad] Endereço:Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD 4072, Australia.
[Ti] Título:Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.
[So] Source:Am J Hum Genet;101(2):255-266, 2017 Aug 03.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Breast cancer risk is strongly associated with an intergenic region on 11q13. We have previously shown that the strongest risk-associated SNPs fall within a distal enhancer that regulates CCND1. Here, we report that, in addition to regulating CCND1, this enhancer regulates two estrogen-regulated long noncoding RNAs, CUPID1 and CUPID2. We provide evidence that the risk-associated SNPs are associated with reduced chromatin looping between the enhancer and the CUPID1 and CUPID2 bidirectional promoter. We further show that CUPID1 and CUPID2 are predominantly expressed in hormone-receptor-positive breast tumors and play a role in modulating pathway choice for the repair of double-strand breaks. These data reveal a mechanism for the involvement of this region in breast cancer.
[Mh] Termos MeSH primário: Neoplasias da Mama/genética
Cromossomos Humanos Par 11/genética
Ciclina D1/genética
Reparo do DNA/genética
RNA Longo não Codificante/genética
[Mh] Termos MeSH secundário: Linhagem Celular Tumoral
Cromatina/metabolismo
Quebras de DNA de Cadeia Dupla
Dano ao DNA/genética
Elementos Facilitadores Genéticos/genética
Estrogênios/metabolismo
Feminino
Regulação Neoplásica da Expressão Gênica
Predisposição Genética para Doença/genética
Seres Humanos
Células MCF-7
Polimorfismo de Nucleotídeo Único/genética
Regiões Promotoras Genéticas/genética
Interferência de RNA
RNA Guia/genética
RNA Interferente Pequeno/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CCND1 protein, human); 0 (Chromatin); 0 (Estrogens); 0 (RNA, Guide); 0 (RNA, Long Noncoding); 0 (RNA, Small Interfering); 136601-57-5 (Cyclin D1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE


  9 / 7697 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28715588
[Au] Autor:Musolf AM; Simpson CL; Moiz BA; Long KA; Portas L; Murgia F; Ciner EB; Stambolian D; Bailey-Wilson JE
[Ad] Endereço:Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States.
[Ti] Título:Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.
[So] Source:Invest Ophthalmol Vis Sci;58(9):3547-3554, 2017 Jul 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Myopia is a common visual disorder caused by eye overgrowth, resulting in blurry vision. It affects one in four Americans, and its prevalence is increasing. The genetic mechanisms that underpin myopia are not completely understood. Here, we use genotype data and linkage analyses to identify high-risk genetic loci that are significantly linked to myopia. Methods: Individuals from 56 Caucasian families with a history of myopia were genotyped on an exome-based array, and the single nucleotide polymorphism (SNP) data were merged with microsatellite genotype data. Refractive error measures on the samples were converted into binary phenotypes consisting of affected, unaffected, or unknown myopia status. Parametric linkage analyses assuming an autosomal dominant model with 90% penetrance and 10% phenocopy rate were performed. Results: Single variant two-point analyses yielded three significantly linked SNPs at 11p14.1 and 11p11.2; a further 45 SNPs at 11p were found to be suggestive. No other chromosome had any significant SNPs or more than seven suggestive linkages. Two of the significant SNPs were located in BBOX1-AS1 and one in the intergenic region between ORA47 and TRIM49B. Collapsed haplotype pattern two-point analysis and multipoint analyses also yielded multiple suggestively linked genes at 11p. Multipoint analysis also identified suggestive evidence of linkage on 20q13. Conclusions: We identified three genome-wide significant linked variants on 11p for myopia in Caucasians. Although the novel specific signals still need to be replicated, 11p is a promising region that has been identified by other linkage studies with a number of potentially interesting candidate genes. We hope that the identification of these regions on 11p as potential causal regions for myopia will lead to more focus on these regions and maybe possible replication of our specific linkage peaks in other studies. We further plan targeted sequencing on 11p for our most highly linked families to more clearly understand the source of the linkage in this region.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11/genética
Grupo com Ancestrais do Continente Europeu/genética
Ligação Genética
Miopia/genética
[Mh] Termos MeSH secundário: Adulto
Mapeamento Cromossômico
Exoma/genética
Feminino
Genoma Humano
Estudo de Associação Genômica Ampla
Genótipo
Técnicas de Genotipagem
Seres Humanos
Escore Lod
Masculino
Linhagem
Polimorfismo de Nucleotídeo Único
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170728
[Lr] Data última revisão:
170728
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-21271


  10 / 7697 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28549169
[Au] Autor:Stolzenburg LR; Yang R; Kerschner JL; Fossum S; Xu M; Hoffmann A; Lamar KM; Ghosh S; Wachtel S; Leir SH; Harris A
[Ad] Endereço:Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, IL 60614, USA.
[Ti] Título:Regulatory dynamics of 11p13 suggest a role for EHF in modifying CF lung disease severity.
[So] Source:Nucleic Acids Res;45(15):8773-8784, 2017 Sep 06.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), but are not good predictors of lung phenotype. Genome-wide association studies (GWAS) previously identified additional genomic sites associated with CF lung disease severity. One of these, at chromosome 11p13, is an intergenic region between Ets homologous factor (EHF) and Apaf-1 interacting protein (APIP). Our goal was to determine the functional significance of this region, which being intergenic is probably regulatory. To identify cis-acting elements, we used DNase-seq and H3K4me1 and H3K27Ac ChIP-seq to map open and active chromatin respectively, in lung epithelial cells. Two elements showed strong enhancer activity for the promoters of EHF and the 5' adjacent gene E47 like ETS transcription factor 5 (ELF5) in reporter gene assays. No enhancers of the APIP promoter were found. Circular chromosome conformation capture (4C-seq) identified direct physical interactions of elements within 11p13. This confirmed the enhancer-promoter associations, identified additional interacting elements and defined topologically associating domain (TAD) boundaries, enriched for CCCTC-binding factor (CTCF). No strong interactions were observed with the APIP promoter, which lies outside the main TAD encompassing the GWAS signal. These results focus attention on the role of EHF in modifying CF lung disease severity.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11/genética
Fibrose Cística/genética
Fibrose Cística/patologia
Regulação da Expressão Gênica
Fatores de Transcrição/fisiologia
[Mh] Termos MeSH secundário: Células CACO-2
Células Cultivadas
Cromatina/metabolismo
Elementos Facilitadores Genéticos
Loci Gênicos
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Seres Humanos
Células K562
Polimorfismo de Nucleotídeo Único
Índice de Gravidade de Doença
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromatin); 0 (EHF protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170527
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx482



página 1 de 770 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde