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  1 / 1029 MEDLINE  
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[PMID]:28453780
[Au] Autor:Billings LK; Jablonski KA; Warner AS; Cheng YC; McAteer JB; Tipton L; Shuldiner AR; Ehrmann DA; Manning AK; Dabelea D; Franks PW; Kahn SE; Pollin TI; Knowler WC; Altshuler D; Florez JC; Diabetes Prevention Program Research Group
[Ad] Endereço:Diabetes Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.
[Ti] Título:Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.
[So] Source:J Clin Endocrinol Metab;102(8):2678-2689, 2017 Aug 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Variation in genes that cause maturity-onset diabetes of the young (MODY) has been associated with diabetes incidence and glycemic traits. Objectives: This study aimed to determine whether genetic variation in MODY genes leads to differential responses to insulin-sensitizing interventions. Design and Setting: This was a secondary analysis of a multicenter, randomized clinical trial, the Diabetes Prevention Program (DPP), involving 27 US academic institutions. We genotyped 22 missense and 221 common variants in the MODY-causing genes in the participants in the DPP. Participants and Interventions: The study included 2806 genotyped DPP participants randomized to receive intensive lifestyle intervention (n = 935), metformin (n = 927), or placebo (n = 944). Main Outcome Measures: Association of MODY genetic variants with diabetes incidence at a median of 3 years and measures of 1-year ß-cell function, insulinogenic index, and oral disposition index. Analyses were stratified by treatment group for significant single-nucleotide polymorphism × treatment interaction (Pint < 0.05). Sequence kernel association tests examined the association between an aggregate of rare missense variants and insulinogenic traits. Results: After 1 year, the minor allele of rs3212185 (HNF4A) was associated with improved ß-cell function in the metformin and lifestyle groups but not the placebo group; the minor allele of rs6719578 (NEUROD1) was associated with an increase in insulin secretion in the metformin group but not in the placebo and lifestyle groups. Conclusions: These results provide evidence that genetic variation among MODY genes may influence response to insulin-sensitizing interventions.
[Mh] Termos MeSH primário: Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética
Diabetes Mellitus Tipo 2/genética
Terapia por Exercício
Fator 4 Nuclear de Hepatócito/genética
Programas de Redução de Peso
[Mh] Termos MeSH secundário: Diabetes Mellitus Tipo 2/prevenção & controle
Variação Genética
Glucoquinase/genética
Fator 1-alfa Nuclear de Hepatócito/genética
Fator 1-beta Nuclear de Hepatócito/genética
Proteínas de Homeodomínio/genética
Seres Humanos
Metformina/uso terapêutico
Mutação de Sentido Incorreto
Polimorfismo de Nucleotídeo Único
Comportamento de Redução do Risco
Transativadores/genética
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Basic Helix-Loop-Helix Transcription Factors); 0 (HNF1A protein, human); 0 (HNF1B protein, human); 0 (HNF4A protein, human); 0 (Hepatocyte Nuclear Factor 1-alpha); 0 (Hepatocyte Nuclear Factor 4); 0 (Homeodomain Proteins); 0 (NEUROD1 protein, human); 0 (Trans-Activators); 0 (pancreatic and duodenal homeobox 1 protein); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta); 9100L32L2N (Metformin); EC 2.7.1.2 (Glucokinase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-3429


  2 / 1029 MEDLINE  
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[PMID]:28807937
[Au] Autor:Sun M; Tong P; Kong W; Dong B; Huang Y; Park IY; Zhou L; Liu XD; Ding Z; Zhang X; Bai S; German P; Powell R; Wang Q; Tong X; Tannir NM; Matin SF; Rathmell WK; Fuller GN; McCutcheon IE; Walker CL; Wang J; Jonasch E
[Ad] Endereço:Department of Genitourinary Medical Oncology, University of Texas at MD Anderson Cancer Center, Houston, Texas.
[Ti] Título:HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas.
[So] Source:Cancer Res;77(19):5313-5326, 2017 Oct 01.
[Is] ISSN:1538-7445
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chromophobe renal cell carcinoma (ChRCC) is characterized by major changes in chromosomal copy number (CN). No model is available to precisely elucidate the molecular drivers of this tumor type. HNF1B is a master regulator of gene expression. Here, we report that the transcription factor HNF1B is downregulated in the majority of ChRCC and that the magnitude of loss is unique to ChRCC. We also observed a strong correlation between reduced expression and aneuploidy in ChRCC patients. In murine embryonic fibroblasts or ACHN cells, deficiency reduced expression of the spindle checkpoint proteins MAD2L1 and BUB1B, and the cell-cycle checkpoint proteins RB1 and p27. Furthermore, it altered the chromatin accessibility of , , and genes and triggered aneuploidy development. Analysis of The Cancer Genome Atlas database revealed mutations in 33% of ChRCC where expression was repressed. In clinical specimens, combining loss with mutation produced an association with poor patient prognosis. In cells, combining loss and mutation increased cell proliferation and aneuploidy. Our results show how loss leads to abnormal mitotic protein regulation and induction of aneuploidy. We propose that coordinate loss of and may enhance cellular survival and confer an aggressive phenotype in ChRCC. .
[Mh] Termos MeSH primário: Carcinoma de Células Renais/patologia
Proteínas de Ciclo Celular/metabolismo
Fator 1-beta Nuclear de Hepatócito/metabolismo
Neoplasias Renais/patologia
Proteínas Mad2/metabolismo
Proteínas Serina-Treonina Quinases/metabolismo
[Mh] Termos MeSH secundário: Aneuploidia
Animais
Apoptose
Carcinoma de Células Renais/genética
Carcinoma de Células Renais/metabolismo
Ciclo Celular
Proteínas de Ciclo Celular/genética
Proliferação Celular
Células Cultivadas
Instabilidade Cromossômica
Embrião de Mamíferos/citologia
Embrião de Mamíferos/metabolismo
Fibroblastos/citologia
Fibroblastos/metabolismo
Fator 1-beta Nuclear de Hepatócito/genética
Seres Humanos
Neoplasias Renais/genética
Neoplasias Renais/metabolismo
Proteínas Mad2/genética
Camundongos
Proteínas Serina-Treonina Quinases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BUB1B protein, human); 0 (Cell Cycle Proteins); 0 (HNF1B protein, human); 0 (MAD2L1 protein, human); 0 (Mad2 Proteins); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[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:170816
[St] Status:MEDLINE
[do] DOI:10.1158/0008-5472.CAN-17-0986


  3 / 1029 MEDLINE  
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[PMID]:28794155
[Au] Autor:Zhang J; Qu P; Zhou C; Liu X; Ma X; Wang M; Wang Y; Su J; Liu J; Zhang Y
[Ad] Endereço:From the Key Laboratory of Animal Biotechnology of the Ministry of Agriculture, College of Veterinary Medicine, Northwest A&F University, Yangling 712100, Shaanxi, China.
[Ti] Título:MicroRNA-125b is a key epigenetic regulatory factor that promotes nuclear transfer reprogramming.
[So] Source:J Biol Chem;292(38):15916-15926, 2017 Sep 22.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Somatic cell nuclear transfer (SCNT)-mediated reprogramming is a rapid, efficient, and sophisticated process that reprograms differentiated somatic cells to a pluripotent state. However, many factors in this elaborate reprogramming process remain largely unknown. Here, we report that the microRNA (miR) miR-125b is an important component of SCNT-mediated reprogramming. Luciferase reporter assay, quantitative PCR, and Western blotting demonstrated that miR-125b directly binds the 3'-untranslated region of SUV39H1, encoding the histone-lysine -methyltransferase SUV39H1, to down-regulate histone H3 lysine-9 tri-methylation (H3K9me3) in SCNT embryos. Furthermore, the miR-125b/SUV39H1 interaction induced loss of SUV39H1-mediated H3K9me3, caused heterochromatin relaxation, and promoted the development of SCNT embryos. Transcriptome analyses of SCNT blastomeres indicated that HNF1 homeobox B (HNF1B), a gene encoding a transcription factor downstream of and controlled by the miR-125b/SUV39H1 axis, is important for conferring developmental competence on preimplantation embryos. We conclude that miR-125b promotes SCNT-mediated nuclear reprogramming by targeting SUV39H1 to decrease the deposition of repressive H3K9me3 modifications.
[Mh] Termos MeSH primário: Epigênese Genética
MicroRNAs/genética
Técnicas de Transferência Nuclear
[Mh] Termos MeSH secundário: Animais
Sequência de Bases
Regulação da Expressão Gênica/genética
Células HEK293
Fator 1-beta Nuclear de Hepatócito/genética
Heterocromatina/metabolismo
Histonas/química
Histonas/metabolismo
Seres Humanos
Lisina/metabolismo
Metilação
Metiltransferases/genética
Camundongos
Proteínas Repressoras/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HNF1B protein, human); 0 (Heterochromatin); 0 (Histones); 0 (MIRN125 microRNA, human); 0 (MicroRNAs); 0 (Mirn125 microRNA, mouse); 0 (Repressor Proteins); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta); EC 2.1.1. (SUV39H1 protein, human); EC 2.1.1.- (Methyltransferases); K3Z4F929H6 (Lysine)
[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:170811
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.796771


  4 / 1029 MEDLINE  
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[PMID]:28739648
[Au] Autor:Casemayou A; Fournel A; Bagattin A; Schanstra J; Belliere J; Decramer S; Marsal D; Gillet M; Chassaing N; Huart A; Pontoglio M; Knauf C; Bascands JL; Chauveau D; Faguer S
[Ad] Endereço:Institut National de la Santé et de la Recherche Médicale, U1048, Institut of Cardiovascular and Metabolic Disease, Toulouse, France.
[Ti] Título:Hepatocyte Nuclear Factor-1 Controls Mitochondrial Respiration in Renal Tubular Cells.
[So] Source:J Am Soc Nephrol;28(11):3205-3217, 2017 Nov.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AKI is a frequent condition that involves renal microcirculation impairment, infiltration of inflammatory cells with local production of proinflammatory cytokines, and subsequent epithelial disorders and mitochondrial dysfunction. Peroxisome proliferator-activated receptor coactivator 1- (PPARGC1A), a coactivator of the transcription factor PPAR- that controls mitochondrial biogenesis and function, has a pivotal role in the early dysfunction of the proximal tubule and the subsequent renal repair. Here, we evaluated the potential role of hepatocyte nuclear factor-1 (HNF-1 ) in regulating PPARGC1A expression in AKI. In mice, endotoxin injection to induce AKI also induced early and transient inflammation and PPARGC1A inhibition, which overlapped with downregulation of the HNF-1 transcriptional network. , exposure of proximal tubule cells to the inflammatory cytokines IFN- and TNF- led to inhibition of HNF-1 transcriptional activity. Moreover, inhibition of HNF-1 significantly reduced PPARGC1A expression and altered mitochondrial morphology and respiration in proximal tubule cells. Chromatin immunoprecipitation assays and PCR analysis confirmed HNF-1 binding to the promoter in mouse kidneys. We also demonstrated downregulation of renal expression in a patient with an germinal mutation. Thus, we propose that HNF-1 links extracellular inflammatory signals to mitochondrial dysfunction during AKI partly PPARGC1A signaling. Our findings further strengthen the view of -related nephropathy as a mitochondrial disorder in adulthood.
[Mh] Termos MeSH primário: Lesão Renal Aguda/metabolismo
Fator 1-beta Nuclear de Hepatócito/fisiologia
Túbulos Renais Proximais/metabolismo
Mitocôndrias/metabolismo
[Mh] Termos MeSH secundário: Lesão Renal Aguda/etiologia
Adulto
Animais
Fator 1-beta Nuclear de Hepatócito/antagonistas & inibidores
Fator 1-beta Nuclear de Hepatócito/genética
Seres Humanos
Camundongos Endogâmicos C57BL
Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016050508


  5 / 1029 MEDLINE  
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[PMID]:28600106
[Au] Autor:Williams LS; Demir Eksi D; Shen Y; Lossie AC; Chorich LP; Sullivan ME; Phillips JA; Erman M; Kim HG; Alper OM; Layman LC
[Ad] Endereço:Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
[Ti] Título:Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.
[So] Source:Fertil Steril;108(1):145-151.e2, 2017 Jul.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. DESIGN: Laboratory- and community-based study. SETTING: Academic medical centers. PATIENT(S): A total of 147 MRKH probands and available family members. INTERVENTIONS(S): DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. MAIN OUTCOME MEASURE(S): DNA sequence variants and CNVs; pedigree structural analysis. RESULT(S): We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. CONCLUSION(S): Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia
Transtornos 46, XX do Desenvolvimento Sexual/genética
Anormalidades Congênitas/epidemiologia
Anormalidades Congênitas/genética
Fator 1-beta Nuclear de Hepatócito/genética
Proteínas com Homeodomínio LIM/genética
Ductos Paramesonéfricos/anormalidades
Polimorfismo de Nucleotídeo Único/genética
Fatores de Transcrição/genética
Proteína Wnt4/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Coortes
Família
Marcadores Genéticos/genética
Predisposição Genética para Doença/epidemiologia
Predisposição Genética para Doença/genética
Seres Humanos
Internacionalidade
Prevalência
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Genetic Markers); 0 (HNF1B protein, human); 0 (LHX1 protein, human); 0 (LIM-Homeodomain Proteins); 0 (Transcription Factors); 0 (WNT4 protein, human); 0 (Wnt4 Protein); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170611
[St] Status:MEDLINE


  6 / 1029 MEDLINE  
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[PMID]:28507058
[Au] Autor:Aboudehen K; Noureddine L; Cobo-Stark P; Avdulov S; Farahani S; Gearhart MD; Bichet DG; Pontoglio M; Patel V; Igarashi P
[Ad] Endereço:Departments of Medicine and.
[Ti] Título:Hepatocyte Nuclear Factor-1 Regulates Urinary Concentration and Response to Hypertonicity.
[So] Source:J Am Soc Nephrol;28(10):2887-2900, 2017 Oct.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The transcription factor hepatocyte nuclear factor-1 (HNF-1 ) is essential for normal kidney development and function. Inactivation of HNF-1 in mouse kidney tubules leads to early-onset cyst formation and postnatal lethality. Here, we used Pkhd1/Cre mice to delete HNF-1 specifically in renal collecting ducts (CDs). CD-specific HNF-1 mutant mice survived long term and developed slowly progressive cystic kidney disease, renal fibrosis, and hydronephrosis. Compared with wild-type littermates, HNF-1 mutant mice exhibited polyuria and polydipsia. Before the development of significant renal structural abnormalities, mutant mice exhibited low urine osmolality at baseline and after water restriction and administration of desmopressin. However, mutant and wild-type mice had similar plasma vasopressin and solute excretion levels. HNF-1 mutant kidneys showed increased expression of aquaporin-2 mRNA but mislocalized expression of aquaporin-2 protein in the cytoplasm of CD cells. Mutant kidneys also had decreased expression of the UT-A urea transporter and collectrin, which is involved in apical membrane vesicle trafficking. Treatment of HNF-1 mutant mIMCD3 cells with hypertonic NaCl inhibited the induction of osmoregulated genes, including , which encodes the transcription factor FXR that is required for maximal urinary concentration. Chromatin immunoprecipitation and sequencing experiments revealed HNF-1 binding to the promoter in wild-type kidneys, and immunoblot analysis revealed downregulated expression of FXR in HNF-1 mutant kidneys. These findings reveal a novel role of HNF-1 in osmoregulation and identify multiple mechanisms, whereby mutations of HNF-1 produce defects in urinary concentration.
[Mh] Termos MeSH primário: Fator 1-beta Nuclear de Hepatócito/fisiologia
Túbulos Renais Coletores/fisiologia
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Feminino
Regulação da Expressão Gênica
Masculino
Camundongos Transgênicos
Poliúria/genética
Regiões Promotoras Genéticas
Receptores Citoplasmáticos e Nucleares/genética
Receptores Citoplasmáticos e Nucleares/metabolismo
Urina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hnf1b protein, mouse); 0 (Receptors, Cytoplasmic and Nuclear); 0 (farnesoid X-activated receptor); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016101095


  7 / 1029 MEDLINE  
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[PMID]:28324003
[Au] Autor:Kettunen JLT; Parviainen H; Miettinen PJ; Färkkilä M; Tamminen M; Salonen P; Lantto E; Tuomi T
[Ad] Endereço:Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki 00029, Finland.
[Ti] Título:Biliary Anomalies in Patients With HNF1B Diabetes.
[So] Source:J Clin Endocrinol Metab;102(6):2075-2082, 2017 Jun 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and posttransplantation cholestasis have been described. The biliary phenotype is incompletely defined. Objective: To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with magnetic resonance imaging (MRI) or magnetic resonance cholangiopancreatography (MRCP). Setting and Patients: Fourteen patients with HNF1B mutations in the catchment area of the Helsinki University Hospital were evaluated with upper abdominal MRI and MRCP. Blood samples and clinical history provided supplemental data on the individual phenotype. Main Outcome Measure(s): Structural anomalies in the biliary system, medical history of cholestasis, other findings in abdominal organs, diabetes and antihyperglycemic treatment, hypomagnesemia, and hyperuricemia. Results: Structural anomalies of the bile ducts were found in seven of 14 patients (50%). Six patients had choledochal cysts, which are generally considered premalignant. Conclusions: Structural anomalies of the biliary system were common in HNF1B mutation carriers. The malignant potential of HNF1B-associated choledochal cysts warrants further studies.
[Mh] Termos MeSH primário: Cisto do Colédoco/genética
Diabetes Mellitus Tipo 2/genética
Fator 1-beta Nuclear de Hepatócito/genética
Doenças Renais Císticas/genética
Pâncreas/anormalidades
Pancreatopatias/congênito
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Sistema Biliar/anormalidades
Sistema Biliar/diagnóstico por imagem
Criança
Colangiopancreatografia por Ressonância Magnética
Cisto do Colédoco/diagnóstico por imagem
Feminino
Finlândia
Seres Humanos
Doenças Renais Císticas/diagnóstico por imagem
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Mutação
Pâncreas/diagnóstico por imagem
Pancreatopatias/diagnóstico por imagem
Pancreatopatias/genética
Fenótipo
Anormalidades Urogenitais/diagnóstico por imagem
Útero/anormalidades
Útero/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HNF1B protein, human); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00061


  8 / 1029 MEDLINE  
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[PMID]:28241454
[Au] Autor:Bubancova I; Kovarikova H; Laco J; Ruszova E; Dvorak O; Palicka V; Chmelarova M
[Ad] Endereço:Institute of Clinical Biochemistry and Diagnostics, Charles University Faculty of Medicine and University Hospital Hradec Kralove, 500 05 Hradec Kralove, Czech Republic. ivana.bubancova@fnhk.cz.
[Ti] Título:Next-Generation Sequencing Approach in Methylation Analysis of HNF1B and GATA4 Genes: Searching for Biomarkers in Ovarian Cancer.
[So] Source:Int J Mol Sci;18(2), 2017 Feb 22.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:DNA methylation is well-known to be associated with ovarian cancer (OC) and has great potential to serve as a biomarker in monitoring response to therapy and for disease screening. The purpose of this study was to investigate methylation of and and correlate detected methylation with clinicopathological characteristic of OC patients. The study group consisted of 64 patients with OC and 35 control patients. To determine the most important sites of and , we used next-generation sequencing. For further confirmation of detected methylation of selected regions, we used high-resolution melting analysis and methylation-specific real-time polymerase chain reaction (PCR). Selected regions of and were completely methylation free in all control samples, whereas methylation-positive pattern was observed in 32.8% ( ) and 45.3% ( ) of OC samples. Evaluating both genes together, we were able to detect methylation in 65.6% of OC patients. We observed a statistically significant difference in methylation between samples with different stages of OC. We also detected subtype specific methylation in and a decrease of methylation in late stages of OC. The combination of unmethylated and methylated was associated with longer overall survival. In our study, we employed innovative approach of methylation analysis of and to search for possible epigenetic biomarkers. We confirmed the significance of the and hypermethylation with emphasis on the need of selecting the most relevant sites for analysis. We suggest selected CpGs to be further examined as a potential positive prognostic factor.
[Mh] Termos MeSH primário: Biomarcadores Tumorais
Metilação de DNA
Fator de Transcrição GATA4/genética
Fator 1-beta Nuclear de Hepatócito/genética
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Seguimentos
Fator de Transcrição GATA4/metabolismo
Regulação Neoplásica da Expressão Gênica
Fator 1-beta Nuclear de Hepatócito/metabolismo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Estimativa de Kaplan-Meier
Meia-Idade
Gradação de Tumores
Estadiamento de Neoplasias
Neoplasias Ovarianas/diagnóstico
Neoplasias Ovarianas/metabolismo
Neoplasias Ovarianas/mortalidade
Prognóstico
Regiões Promotoras Genéticas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (GATA4 Transcription Factor); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170301
[St] Status:MEDLINE


  9 / 1029 MEDLINE  
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[PMID]:28215227
[Au] Autor:Sneha P; Doss CG
[Ad] Endereço:School of Biosciences and Technology, VIT University, Vellore, Tamil Nadu, India.
[Ti] Título:Elucidating the Mutational Landscape in Hepatocyte Nuclear Factor 1ß (HNF1B) by Computational Approach.
[So] Source:Adv Protein Chem Struct Biol;107:283-306, 2017.
[Is] ISSN:1876-1623
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Transcription factors are the major gene-regulatory proteins that recognize specific nucleotide sequences and bind to them. Missense mutations in transcription factors play a significant role in misregulation of gene expression contributing to various diseases and disorders. Understanding their structural and functional impact of the disease-causing mutations becomes prime importance in treating a disease. Commonly associated defect with the mutations of hepatocyte nuclear factor 1 beta (HNF1B) protein, a transcription factor results in maturity-onset diabetes of the young-5 (MODY-5) leading to loss of function. In the study presented, we applied a series of computational strategies to analyze the effect of mutations on protein structure or function in protein-DNA complex. The mutations from publicly available databases were retrieved and subjected to an array of in silico prediction methods. Key implementation of the present study consists of a pipeline drawn using well established in silico prediction methods of different algorithms to explain the biochemical changes impaired upon mutations in the binding sites of protein-DNA complex using HNF1B. Prediction scores obtained from the in silico tools suggested H153N and A241T as the major nsSNPs involved in destabilizing the protein. Further, high-end microscopic computational study, such as molecular dynamics simulations was utilized to relate the structural and functional effects upon mutations. Although, both the mutations exhibited similar structural differences, we observed A241T with higher destabilizing effect on the protein. The presented work is a step toward understanding the genotype-phenotype relationships in transcription factor genes using fast and accurate computational approach.
[Mh] Termos MeSH primário: Biologia Computacional
Fator 1-beta Nuclear de Hepatócito/genética
Mutação
[Mh] Termos MeSH secundário: Fator 1-beta Nuclear de Hepatócito/química
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (HNF1B protein, human); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170221
[St] Status:MEDLINE


  10 / 1029 MEDLINE  
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[PMID]:28214017
[Au] Autor:Burghaus S; Fasching PA; Häberle L; Rübner M; Büchner K; Blum S; Engel A; Ekici AB; Hartmann A; Hein A; Beckmann MW; Renner SP
[Ad] Endereço:Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
[Ti] Título:Genetic risk factors for ovarian cancer and their role for endometriosis risk.
[So] Source:Gynecol Oncol;145(1):142-147, 2017 04.
[Is] ISSN:1095-6859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions. METHODS: In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis. The cases consisted of patients with endometriosis, and the controls were healthy individuals without endometriosis. A total of 385 cases and 484 controls were analyzed. Odds ratios and P values were obtained using simple logistic regression models, as well as from multiple logistic regression models with adjustment for clinical predictors. RESULTS: rs11651755 in HNF1B was found to be associated with endometriosis in this case-control study. The OR was 0.66 (95% CI, 0.51 to 0.84) and the P value after correction for multiple testing was 0.01. None of the other genotypes was associated with a risk for endometriosis. CONCLUSIONS: As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer.
[Mh] Termos MeSH primário: Endometriose/genética
Fator 1-beta Nuclear de Hepatócito/genética
[Mh] Termos MeSH secundário: Adenocarcinoma de Células Claras/genética
Adulto
Estudos de Casos e Controles
Feminino
Predisposição Genética para Doença
Seres Humanos
Modelos Logísticos
Meia-Idade
Razão de Chances
Neoplasias Ovarianas/genética
Polimorfismo de Nucleotídeo Único
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (HNF1B protein, human); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170219
[St] Status:MEDLINE



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