Base de dados : MEDLINE
Pesquisa : D12.776.260.103.906.500 [Categoria DeCS]
Referências encontradas : 6 [refinar]
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  1 / 6 MEDLINE  
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[PMID]:28658273
[Au] Autor:Awasthi Mishra N; Drögemüller C; Jagannathan V; Keller I; Wüthrich D; Bruggmann R; Beck J; Schütz E; Brenig B; Demmel S; Moser S; Signer-Hasler H; Pienkowska-Schelling A; Schelling C; Sande M; Rongen R; Rieder S; Kelsh RN; Mercader N; Leeb T
[Ad] Endereço:Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
[Ti] Título:A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle.
[So] Source:PLoS One;12(6):e0180170, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Belted cattle have a circular belt of unpigmented hair and skin around their midsection. The belt is inherited as a monogenic autosomal dominant trait. We mapped the causative variant to a 37 kb segment on bovine chromosome 3. Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression of TWIST2 during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovine TWIST2 in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers. Our results thus implicate an unsuspected involvement of TWIST2 in regulating pigmentation and reveal a non-coding CNV underlying a captivating Mendelian character.
[Mh] Termos MeSH primário: Região 5´-Flanqueadora/genética
Bovinos/genética
Variações do Número de Cópias de DNA/genética
Melanócitos/fisiologia
Proteína 2 Relacionada a Twist/genética
[Mh] Termos MeSH secundário: Região 5'-Flanqueadora/fisiologia
Animais
Animais Geneticamente Modificados/genética
Bovinos/crescimento & desenvolvimento
Variações do Número de Cópias de DNA/fisiologia
Feminino
Masculino
Fenótipo
Reação em Cadeia da Polimerase
Pigmentação da Pele/genética
Proteína 2 Relacionada a Twist/fisiologia
Peixe-Zebra/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Twist-Related Protein 2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170629
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180170


  2 / 6 MEDLINE  
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[PMID]:28350298
[Au] Autor:Anelli V; Villefranc JA; Chhangawala S; Martinez-McFaline R; Riva E; Nguyen A; Verma A; Bareja R; Chen Z; Scognamiglio T; Elemento O; Houvras Y
[Ad] Endereço:Department of Surgery, Weill Cornell Medical College, New York Presbyterian Hospital, New York City, United States.
[Ti] Título:Oncogenic BRAF disrupts thyroid morphogenesis and function via twist expression.
[So] Source:Elife;6, 2017 Mar 28.
[Is] ISSN:2050-084X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Thyroid cancer is common, yet the sequence of alterations that promote tumor formation are incompletely understood. Here, we describe a novel model of thyroid carcinoma in zebrafish that reveals temporal changes due to BRAF . Through the use of real-time in vivo imaging, we observe disruption in thyroid follicle structure that occurs early in thyroid development. Combinatorial treatment using BRAF and MEK inhibitors reversed the developmental effects induced by BRAF . Adult zebrafish expressing BRAF in thyrocytes developed invasive carcinoma. We identified a gene expression signature from zebrafish thyroid cancer that is predictive of disease-free survival in patients with papillary thyroid cancer. Gene expression studies nominated TWIST2 as a key effector downstream of BRAF. Using CRISPR/Cas9 to genetically inactivate a TWIST2 orthologue, we suppressed the effects of BRAF and restored thyroid morphology and hormone synthesis. These data suggest that expression of TWIST2 plays a role in an early step of BRAF -mediated transformation.
[Mh] Termos MeSH primário: Morfogênese
Proteínas Proto-Oncogênicas B-raf/metabolismo
Glândula Tireoide/embriologia
Glândula Tireoide/fisiologia
Hormônios Tireóideos/metabolismo
Neoplasias da Glândula Tireoide/patologia
Proteína 2 Relacionada a Twist/biossíntese
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Deleção de Genes
Perfilação da Expressão Gênica
Regulação da Expressão Gênica
Proteínas Mutantes/genética
Proteínas Mutantes/metabolismo
Mutação de Sentido Incorreto
Proteínas Proto-Oncogênicas B-raf/genética
Proteína 2 Relacionada a Twist/genética
Peixe-Zebra
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mutant Proteins); 0 (Thyroid Hormones); 0 (Twist-Related Protein 2); EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE


  3 / 6 MEDLINE  
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[PMID]:28270406
[Au] Autor:Wu X; Li X; Fu Q; Cao Q; Chen X; Wang M; Yu J; Long J; Yao J; Liu H; Wang D; Liao R; Dong C
[Ad] Endereço:Department of Pathology and Pathophysiology, Zhejiang University School of Medicine, Hangzhou 310058, China.
[Ti] Título:AKR1B1 promotes basal-like breast cancer progression by a positive feedback loop that activates the EMT program.
[So] Source:J Exp Med;214(4):1065-1079, 2017 Apr 03.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Basal-like breast cancer (BLBC) is associated with high-grade, distant metastasis and poor prognosis. Elucidating the determinants of aggressiveness in BLBC may facilitate the development of novel interventions for this challenging disease. In this study, we show that aldo-keto reductase 1 member B1 (AKR1B1) overexpression highly correlates with BLBC and predicts poor prognosis in breast cancer patients. Mechanistically, Twist2 transcriptionally induces AKR1B1 expression, leading to nuclear factor κB (NF-κB) activation. In turn, NF-κB up-regulates Twist2 expression, thereby fulfilling a positive feedback loop that activates the epithelial-mesenchymal transition program and enhances cancer stem cell (CSC)-like properties in BLBC. AKR1B1 expression promotes, whereas AKR1B1 knockdown inhibits, tumorigenicity and metastasis. Importantly, epalrestat, an AKR1B1 inhibitor that has been approved for the treatment of diabetic complications, significantly suppresses CSC properties, tumorigenicity, and metastasis of BLBC cells. Together, our study identifies AKR1B1 as a key modulator of tumor aggressiveness and suggests that pharmacologic inhibition of AKR1B1 has the potential to become a valuable therapeutic strategy for BLBC.
[Mh] Termos MeSH primário: Aldeído Redutase/fisiologia
Neoplasias da Mama/patologia
Transição Epitelial-Mesenquimal
[Mh] Termos MeSH secundário: Aldeído Redutase/antagonistas & inibidores
Animais
Neoplasias da Mama/tratamento farmacológico
Neoplasias da Mama/etiologia
Linhagem Celular Tumoral
Movimento Celular
Dinoprosta/análise
Progressão da Doença
Retroalimentação Fisiológica
Feminino
Seres Humanos
Camundongos
NF-kappa B/fisiologia
Invasividade Neoplásica
Células-Tronco Neoplásicas/patologia
Fator de Transcrição RelA/fisiologia
Proteína 2 Relacionada a Twist/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NF-kappa B); 0 (RELA protein, human); 0 (Transcription Factor RelA); 0 (Twist-Related Protein 2); B7IN85G1HY (Dinoprost); EC 1.1.1.21 (AKR1B1 protein, human); EC 1.1.1.21 (Aldehyde Reductase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20160903


  4 / 6 MEDLINE  
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[PMID]:28208580
[Au] Autor:Grunz-Borgmann EA; Nichols LA; Wang X; Parrish AR
[Ad] Endereço:Department of Medical Pharmacology and Physiology, School of Medicine, University of Missouri, Columbia, MO 65212, USA. grunze@health.missouri.edu.
[Ti] Título:Twist2 Is Upregulated in Early Stages of Repair Following Acute Kidney Injury.
[So] Source:Int J Mol Sci;18(2), 2017 Feb 10.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:The aging kidney is a marked by a number of structural and functional changes, including an increased susceptibility to acute kidney injury (AKI). Previous studies from our laboratory have shown that aging male Fischer 344 rats (24 month) are more susceptible to apoptosis-mediated injury than young counterparts. In the current studies, we examined the initial injury and early recovery phases of mercuric chloride-induced AKI. Interestingly, the aging kidney had decreased serum creatinine compared to young controls 1 day following mercuric chloride injury, but by day 4, serum creatinine was significantly elevated, suggesting that the aging kidney did not recover from injury. This conclusion is supported by the findings that serum creatinine and kidney injury molecule-1 ( ) gene expression remain elevated compared to young controls at 10 days post-injury. To begin to elucidate mechanism(s) underlying dysrepair in the aging kidney, we examined the expression of Twist2, a helix-loop-helix transcription factor that may mediate renal fibrosis. Interestingly, gene expression was elevated following injury in both young and aged rats, and Twist2 protein expression is elevated by mercuric chloride in vitro.
[Mh] Termos MeSH primário: Lesão Renal Aguda/etiologia
Lesão Renal Aguda/patologia
Regulação da Expressão Gênica
Proteína 2 Relacionada a Twist/genética
[Mh] Termos MeSH secundário: Fatores Etários
Animais
Biomarcadores
Moléculas de Adesão Celular/genética
Moléculas de Adesão Celular/metabolismo
Modelos Animais de Doenças
Masculino
Ratos
Regeneração/genética
Fatores de Tempo
Proteína 2 Relacionada a Twist/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cell Adhesion Molecules); 0 (Havcr1protein, rat); 0 (Twist-Related Protein 2)
[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:170218
[St] Status:MEDLINE


  5 / 6 MEDLINE  
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[PMID]:27196381
[Au] Autor:De Maria B; Mazzanti L; Roche N; Hennekam RC
[Ad] Endereço:Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
[Ti] Título:Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
[So] Source:Am J Med Genet A;170(8):1989-2001, 2016 Aug.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Anormalidades do Olho/diagnóstico
Doenças Palpebrais/diagnóstico
Hirsutismo/diagnóstico
Hipertelorismo/diagnóstico
Hipertricose/diagnóstico
Macrostomia/diagnóstico
Fenótipo
Anormalidades da Pele/diagnóstico
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Anormalidades do Olho/genética
Doenças Palpebrais/genética
Facies
Estudos de Associação Genética
Genótipo
Hirsutismo/genética
Seres Humanos
Hipertelorismo/genética
Hipertricose/genética
Macrostomia/genética
Mutação
Anormalidades da Pele/genética
Proteína 2 Relacionada a Twist/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (Twist-Related Protein 2)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160520
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37757


  6 / 6 MEDLINE  
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[PMID]:26957038
[Au] Autor:Liu Z; Chen O; Zheng M; Wang L; Zhou Y; Yin C; Liu J; Qian L
[Ad] Endereço:Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, United States; McAllister Heart Institute, University of North Carolina, Chapel Hill, NC 27599, United States; Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 2
[Ti] Título:Re-patterning of H3K27me3, H3K4me3 and DNA methylation during fibroblast conversion into induced cardiomyocytes.
[So] Source:Stem Cell Res;16(2):507-18, 2016 Mar.
[Is] ISSN:1876-7753
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Direct conversion of fibroblasts into induced cardiomyocytes (iCMs) offers an alternative strategy for cardiac disease modeling and regeneration. During iCM reprogramming, the starting fibroblasts must overcome existing epigenetic barriers to acquire the CM-like chromatin pattern. However, epigenetic dynamics along this reprogramming process have not been studied. Here, we took advantage of our recently generated polycistronic system and determined the dynamics of two critical histone marks, H3K27me3 and H3K4me3, in parallel with gene expression at a set of carefully selected cardiac and fibroblast loci during iCM reprogramming. We observed reduced H3K27me3 and increased H3K4me3 at cardiac promoters as early as day 3, paralleled by a rapid significant increase in their mRNA expression. In contrast, H3K27me3 at loci encoding fibroblast marker genes did not increase until day 10 and H3K4me3 progressively decreased along the reprogramming process; these changes were accompanied by a gradual decrease in the mRNA expression of fibroblast marker genes. Further analyses of fibroblast-enriched transcription factors revealed a similarly late deposition of H3K27me3 and decreased mRNA expression of Sox9, Twist1 and Twist2, three important players in epithelial-mesenchymal transition. Our data suggest early rapid activation of the cardiac program and later progressive suppression of fibroblast fate at both epigenetic and transcriptional levels. Additionally, we determined the DNA methylation states of representative cardiac promoters and found that not every single CpG was equally demethylated during early stages of iCM reprogramming. Rather, there are specific CpGs, whose demethylation states correlated tightly with transcription activation, that we propose are the major contributing CpGs. Our work thus reveals a differential re-patterning of H3K27me3, H3K4me3 at cardiac and fibroblast loci during iCM reprogramming and could provide future genome-wide epigenetic studies with important guidance such as the appropriate time window and loci to be utilized as positive and negative controls.
[Mh] Termos MeSH primário: Metilação de DNA
Fibroblastos/citologia
Histonas/metabolismo
Miócitos Cardíacos/citologia
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Reprogramação Celular
Epigênese Genética
Fibroblastos/metabolismo
Citometria de Fluxo
Camundongos
Camundongos Transgênicos
Microscopia de Fluorescência
Miócitos Cardíacos/metabolismo
Regiões Promotoras Genéticas
RNA Mensageiro/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
Fatores de Transcrição SOX9/genética
Fatores de Transcrição SOX9/metabolismo
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
Ativação Transcricional
Proteína 1 Relacionada a Twist/genética
Proteína 1 Relacionada a Twist/metabolismo
Proteína 2 Relacionada a Twist/genética
Proteína 2 Relacionada a Twist/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Histones); 0 (RNA, Messenger); 0 (SOX9 Transcription Factor); 0 (Transcription Factors); 0 (Twist-Related Protein 1); 0 (Twist-Related Protein 2)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170301
[Lr] Data última revisão:
170301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160310
[St] Status:MEDLINE



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