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[PMID]:29325312
[Au] Autor:Wang WJ; Sun YQ; Tang FF; Han TT; Mo XD; Wang JZ; Zhang XH; Huang XJ; Xu LP
[Ad] Endereço:Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.
[Ti] Título:[Outcomes of alternative donor allogeneic hematopoietic stem cell transplantation for Fanconi anemia: a five cases report].
[So] Source:Zhonghua Nei Ke Za Zhi;57(1):54-56, 2018 Jan 01.
[Is] ISSN:0578-1426
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Five patients with Fanconi anemia who received hematopoietic cell transplantation were retrospectively analyzed. The conditioning regimens included fludarabine, cyclophosphamide and anti-thymocyte globulin. Two patients received both bone marrow and peripheral blood stem cells as the source of stem cell grafts from haploidentical matched related donors, while the others received peripheral blood stem cells from unrelated donors. All patients tolerated well and reached hematopoietic reconstitution. One patient died of intracranial infection. During follow-up, 4 patients survived independent of transfusion with full donor chimerism.
[Mh] Termos MeSH primário: Anemia de Fanconi/terapia
Doença Enxerto-Hospedeiro/prevenção & controle
Transplante de Células-Tronco Hematopoéticas
Condicionamento Pré-Transplante
[Mh] Termos MeSH secundário: Soro Antilinfocitário/administração & dosagem
Soro Antilinfocitário/uso terapêutico
Medula Óssea
Ciclofosfamida/administração & dosagem
Ciclofosfamida/uso terapêutico
Seres Humanos
Estudos Retrospectivos
Resultado do Tratamento
Doadores não Relacionados
Vidarabina/análogos & derivados
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antilymphocyte Serum); 8N3DW7272P (Cyclophosphamide); FA2DM6879K (Vidarabine); P2K93U8740 (fludarabine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1426.2018.01.010


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[PMID]:29197907
[Au] Autor:Singh T; Andi K
[Ad] Endereço:Oral and Maxillofacial Surgery, Waikato District Health Board, Hamilton.
[Ti] Título:Fanconi anaemia and oral squamous cell carcinoma: management considerations.
[So] Source:N Z Med J;130(1466):92-95, 2017 Dec 01.
[Is] ISSN:1175-8716
[Cp] País de publicação:New Zealand
[La] Idioma:eng
[Ab] Resumo:Fanconi anaemia (FA) is a rare multi-system genetic disorder where patients are susceptible to the development of oral malignancies. Clinicians involved in their management should be vigilant in detecting lesions early, and an individualised treatment plan should then be formulated. Although surgery forms the mainstay of oncological treatment, adjuvant therapy can be instituted with care. Unfortunately, prognosis is poor, and close long-term follow-up is required. This short report describes pertinent management considerations in relation to a case of oral squamous cell carcinoma.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas
Anemia de Fanconi/complicações
Neoplasias Bucais
[Mh] Termos MeSH secundário: Adulto
Carcinoma de Células Escamosas/complicações
Carcinoma de Células Escamosas/diagnóstico
Carcinoma de Células Escamosas/patologia
Carcinoma de Células Escamosas/cirurgia
Feminino
Mãos/patologia
Seres Humanos
Neoplasias Bucais/complicações
Neoplasias Bucais/diagnóstico
Neoplasias Bucais/patologia
Neoplasias Bucais/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171211
[Lr] Data última revisão:
171211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171204
[St] Status:MEDLINE


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[PMID]:28681917
[Au] Autor:Ravera S; Cossu V; Tappino B; Nicchia E; Dufour C; Cavani S; Sciutto A; Bolognesi C; Columbaro M; Degan P; Cappelli E
[Ad] Endereço:Department of Pharmacy, Biochemistry Laboratory, University of Genova, Genova, Italy.
[Ti] Título:Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.
[So] Source:J Cell Physiol;233(2):1736-1751, 2018 Feb.
[Is] ISSN:1097-4652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Metformin (MET) is the drug of choice for patients with type 2 diabetes and has been proposed for use in cancer therapy and for treating other metabolic diseases. More than 14,000 studies have been published addressing the cellular mechanisms affected by MET. However, several in vitro studies have used concentrations of the drug 10-100-fold higher than the plasmatic concentration measured in patients. Here, we evaluated the biochemical, metabolic, and morphologic effects of various concentrations of MET. Moreover, we tested the effect of MET on Fanconi Anemia (FA) cells, a DNA repair genetic disease with defects in energetic and glucose metabolism, as well as on human promyelocytic leukemia (HL60) cell lines. We found that the response of wild-type cells to MET is concentration dependent. Low concentrations (15 and 150 µM) increase both oxidative phosphorylation and the oxidative stress response, acting on the AMPK/Sirt1 pathway, while the high concentration (1.5 mM) inhibits the respiratory chain, alters cell morphology, becoming toxic to the cells. In FA cells, MET was unable to correct the energetic/respiratory defect and did not improve the response to oxidative stress and DNA damage. By contrast, HL60 cells appear sensitive also at 150 µM. Our findings underline the importance of the MET concentration in evaluating the effect of this drug on cell metabolism and demonstrate that data obtained from in vitro experiments, that have used high concentrations of MET, cannot be readily translated into improving our understanding of the cellular effects of metformin when used in the clinical setting.
[Mh] Termos MeSH primário: Metabolismo Energético/efeitos dos fármacos
Anemia de Fanconi/tratamento farmacológico
Leucemia/tratamento farmacológico
Linfócitos/efeitos dos fármacos
Metformina/farmacologia
[Mh] Termos MeSH secundário: Proteínas Quinases Ativadas por AMP/metabolismo
Estudos de Casos e Controles
Sobrevivência Celular/efeitos dos fármacos
Dano ao DNA
Relação Dose-Resposta a Droga
Ativação Enzimática
Anemia de Fanconi/metabolismo
Anemia de Fanconi/patologia
Células HL-60
Seres Humanos
Leucemia/metabolismo
Leucemia/patologia
Linfócitos/metabolismo
Linfócitos/patologia
Metformina/toxicidade
Fosforilação Oxidativa/efeitos dos fármacos
Estresse Oxidativo/efeitos dos fármacos
Sirtuína 1/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9100L32L2N (Metformin); EC 2.7.11.31 (AMP-Activated Protein Kinases); EC 3.5.1.- (SIRT1 protein, human); EC 3.5.1.- (Sirtuin 1)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1002/jcp.26085


  4 / 2817 MEDLINE  
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[PMID]:28903906
[Au] Autor:He Y; Xie MN; Yu L; Ren Z; Zhu F; Fu C
[Ad] Endereço:The Second Xiangya Hospital of Central South University, Changsha 410011, China.
[Ti] Título:The roles of Fanconi anemia genes in the regulation of follicle development.
[So] Source:Yi Chuan;39(6):469-481, 2017 Jun 20.
[Is] ISSN:0253-9772
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:Fanconi anemia (FA) is a rare recessive autosomal or X-linked genetic disease caused by the mutations of the FA genes. The FA genes are involved in the homologous recombination repair processes of damaged interstrand crosslinks in DNA. Premature ovarian insufficiency (POI) is commonly observed in female FA patients and in mice of experimental FA models with serious deficiency of germ cells, suggesting that FA genes could play an important role(s) in follicle development in mammals. Studies have showed that FA genes play significant functions in promoting the proliferation of primordial germ cell, maintaining normal meiosis of the oocytes, participating in the gonadotropin regulation of oocytes and granular cell growth, and other aspects of regulation of follicular development. In this review, we summarize the roles and molecular mechanisms of FA genes in the development of mammalian follicle, which may provide some insights on the genetic basis for the etiology of POI.
[Mh] Termos MeSH primário: Anemia de Fanconi/genética
Oócitos/crescimento & desenvolvimento
Oócitos/metabolismo
[Mh] Termos MeSH secundário: Animais
Proliferação Celular/genética
Seres Humanos
Meiose/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE
[do] DOI:10.16288/j.yczz.16-414


  5 / 2817 MEDLINE  
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[PMID]:28864460
[Au] Autor:Wilkes DC; Sailer V; Xue H; Cheng H; Collins CC; Gleave M; Wang Y; Demichelis F; Beltran H; Rubin MA; Rickman DS
[Ad] Endereço:Englander Institute for Precision Medicine, Weill Cornell Medicine and New York-Presbyterian Hospital, New York, New York 10065, USA.
[Ti] Título:A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.
[So] Source:Cold Spring Harb Mol Case Stud;3(5), 2017 Sep.
[Is] ISSN:2373-2873
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Defects in genes involved in DNA damage repair (DDR) pathway are emerging as novel biomarkers and targets for new prostate cancer drug therapies. A previous report revealed an association between an exceptional response to cisplatin treatment and a somatic loss of heterozygosity (LOH) of in a patient with metastatic prostate cancer who also harbored a germline variant (S1088F). Although germline mutations are the most frequent alterations in patients with Fanconi anemia, germline alterations are less common in prostate cancer. We hypothesized that the germline S1088F variant in combination with LOH was deleterious for FANCA function and contributed to the patient's exceptional response to cisplatin. We show that although it properly localizes to the nucleus, the S1088F FANCA mutant protein disrupts the FANC protein complex resulting in increased sensitivity to DNA damaging agents. Because molecular stratification is emerging as a strategy for treating men with metastatic, castrate-resistant prostate cancer harboring specific DDR gene defects, our findings suggest that more biomarker studies are needed to better define clinically relevant germline and somatic alterations.
[Mh] Termos MeSH primário: Proteína do Grupo de Complementação A da Anemia de Fanconi/genética
Proteína do Grupo de Complementação A da Anemia de Fanconi/metabolismo
Neoplasias da Próstata/genética
[Mh] Termos MeSH secundário: Biomarcadores Tumorais/genética
Linhagem Celular Tumoral
Núcleo Celular/metabolismo
Cisplatino/uso terapêutico
DNA/metabolismo
Proteínas de Ligação a DNA/genética
Anemia de Fanconi/genética
Seres Humanos
Perda de Heterozigosidade/genética
Masculino
Mutação
Proteínas Nucleares/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (DNA-Binding Proteins); 0 (FANCA protein, human); 0 (Fanconi Anemia Complementation Group A Protein); 0 (Nuclear Proteins); 9007-49-2 (DNA); Q20Q21Q62J (Cisplatin)
[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:170903
[St] Status:MEDLINE


  6 / 2817 MEDLINE  
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[PMID]:28801449
[Au] Autor:Río P; Navarro S; Guenechea G; Sánchez-Domínguez R; Lamana ML; Yañez R; Casado JA; Mehta PA; Pujol MR; Surrallés J; Charrier S; Galy A; Segovia JC; Díaz de Heredia C; Sevilla J; Bueren JA
[Ad] Endereço:Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Madrid, Spain.
[Ti] Título:Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34 cells from Fanconi anemia patients.
[So] Source:Blood;130(13):1535-1542, 2017 Sep 28.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Previous Fanconi anemia (FA) gene therapy studies have failed to demonstrate engraftment of gene-corrected hematopoietic stem and progenitor cells (HSPCs) from FA patients, either after autologous transplantation or infusion into immunodeficient mice. In this study, we demonstrate that a validated short transduction protocol of G-CSF plus plerixafor-mobilized CD34 cells from FA-A patients with a therapeutic lentiviral vector corrects the phenotype of in vitro cultured hematopoietic progenitor cells. Transplantation of transduced FA CD34 cells into immunodeficient mice resulted in reproducible engraftment of myeloid, lymphoid, and CD34 cells. Importantly, a marked increase in the proportion of phenotypically corrected, patient-derived hematopoietic cells was observed after transplantation with respect to the infused CD34 graft, indicating the proliferative advantage of corrected FA-A hematopoietic repopulating cells. Our data demonstrate for the first time that optimized protocols of hematopoietic stem cell collection from FA patients, followed by the short and clinically validated transduction of these cells with a therapeutic lentiviral vector, results in the generation of phenotypically corrected HSPCs capable of repopulating and developing proliferation advantage in immunodeficient mice. Our results suggest that clinical approaches for FA gene therapy similar to those used in this study will facilitate hematopoietic repopulation in FA patients with gene corrected HSPCs, opening new prospects for gene therapy of FA patients.
[Mh] Termos MeSH primário: Proteína do Grupo de Complementação C da Anemia de Fanconi/genética
Anemia de Fanconi/terapia
Terapia Genética/métodos
Vetores Genéticos
Transplante de Células-Tronco Hematopoéticas/métodos
Transdução Genética/métodos
[Mh] Termos MeSH secundário: Animais
Antígenos CD34/imunologia
Criança
Pré-Escolar
Anemia de Fanconi/patologia
Sobrevivência de Enxerto
Mobilização de Células-Tronco Hematopoéticas
Células-Tronco Hematopoéticas/patologia
Xenoenxertos
Seres Humanos
Lentivirus/genética
Camundongos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD34); 0 (Fanconi Anemia Complementation Group C Protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170813
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-03-774174


  7 / 2817 MEDLINE  
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[PMID]:28691929
[Au] Autor:Knies K; Inano S; Ramírez MJ; Ishiai M; Surrallés J; Takata M; Schindler D
[Ad] Endereço:Department of Human Genetics, Biozentrum, University of Wurzburg, Wurzburg, Germany.
[Ti] Título:Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
[So] Source:J Clin Invest;127(8):3013-3027, 2017 Aug 01.
[Is] ISSN:1558-8238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the patient carrying the compound heterozygous mutations c.205_206dupCC and c.1916T>A in RFWD3 showed increased sensitivity to DNA interstrand cross-linking agents in terms of increased chromosomal breakage, reduced survival, and cell cycle arrest in G2 phase. The cellular phenotype was mirrored in genetically engineered human and avian cells by inactivation of RFWD3 or introduction of the patient-derived missense mutation, and the phenotype was rescued by expression of wild-type RFWD3 protein. HR was disrupted in RFWD3-mutant cells as a result of impaired relocation of mutant RFWD3 to chromatin and defective physical interaction with replication protein A. Rfwd3 knockout mice appear to have increased embryonic lethality, are subfertile, show ovarian and testicular atrophy, and have a reduced lifespan resembling that of other FA mouse models. Although RFWD3 mutations have thus far been detected in a single child with FA, we propose RFWD3 as an FA gene, FANCW, supported by cellular paradigm systems and an animal model.
[Mh] Termos MeSH primário: Anemia de Fanconi/genética
Mutação
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Alelos
Animais
Ciclo Celular
Linhagem Celular Tumoral
Criança
Dano ao DNA
Reparo do DNA
Exoma
Anemia de Fanconi/metabolismo
Feminino
Mutação em Linhagem Germinativa
Heterozigoto
Seres Humanos
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Mutação de Sentido Incorreto
Proteínas Nucleares/genética
Fenótipo
Interferência de RNA
Recombinação Genética
Ubiquitina-Proteína Ligases/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nuclear Proteins); EC 2.3.2.27 (RFWD3 protein, human); EC 2.3.2.27 (RFWD3 protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE


  8 / 2817 MEDLINE  
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[PMID]:28678401
[Au] Autor:Chandrasekharappa SC; Chinn SB; Donovan FX; Chowdhury NI; Kamat A; Adeyemo AA; Thomas JW; Vemulapalli M; Hussey CS; Reid HH; Mullikin JC; Wei Q; Sturgis EM
[Ad] Endereço:Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
[Ti] Título:Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
[So] Source:Cancer;123(20):3943-3954, 2017 Oct 15.
[Is] ISSN:1097-0142
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with Fanconi anemia (FA) have an increased risk for head and neck squamous cell carcinoma (HNSCC). The authors sought to determine the prevalence of undiagnosed FA and FA carriers among patients with HNSCC as well as an age cutoff for FA genetic screening. METHODS: Germline DNA samples from 417 patients with HNSCC aged <50 years were screened for sequence variants by targeted next-generation sequencing of the entire length of 16 FA genes. RESULTS: The sequence revealed 194 FA gene variants in 185 patients (44%). The variant spectrum was comprised of 183 nonsynonymous point mutations, 9 indels, 1 large deletion, and 1 synonymous variant that was predicted to effect splicing. One hundred eight patients (26%) had at least 1 rare variant that was predicted to be damaging, and 57 (14%) had at least 1 rare variant that was predicted to be damaging and had been previously reported. Fifteen patients carried 2 rare variants or an X-linked variant in an FA gene. Overall, an age cutoff for FA screening was not identified among young patients with HNSCC, because there were no significant differences in mutation rates when patients were stratified by age, tumor site, ethnicity, smoking status, or human papillomavirus status. However, an increased burden, or mutation load, of FA gene variants was observed in carriers of the genes FA complementation group D2 (FANCD2), FANCE, and FANCL in the HNSCC patient cohort relative to the 1000 Genomes population. CONCLUSIONS: FA germline functional variants offer a novel area of study in HNSCC tumorigenesis. FANCE and FANCL, which are components of the core complex, are known to be responsible for the recruitment and ubiquitination, respectively, of FANCD2, a critical step in the FA DNA repair pathway. In the current cohort, the increased mutation load of FANCD2, FANCE, and FANCL variants among younger patients with HNSCC indicates the importance of the FA pathway in HNSCC. Cancer 2017;123:3943-54. © 2017 American Cancer Society.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Anemia de Fanconi/genética
Neoplasias de Cabeça e Pescoço/genética
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Proteína BRCA2/genética
Análise Mutacional de DNA
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética
Proteína do Grupo de Complementação E da Anemia de Fanconi/genética
Proteína do Grupo de Complementação L da Anemia de Fanconi/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Feminino
Mutação em Linhagem Germinativa
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Recombinases/genética
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (FANCD2 protein, human); 0 (FANCE protein, human); 0 (FANCI protein, human); 0 (Fanconi Anemia Complementation Group D2 Protein); 0 (Fanconi Anemia Complementation Group E Protein); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Recombinases); EC 2.3.2.27 (FANCL protein, human); EC 2.3.2.27 (Fanconi Anemia Complementation Group L Protein); EC 3.1.- (SLX4 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170706
[St] Status:MEDLINE
[do] DOI:10.1002/cncr.30802


  9 / 2817 MEDLINE  
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[PMID]:28666371
[Au] Autor:Niraj J; Caron MC; Drapeau K; Bérubé S; Guitton-Sert L; Coulombe Y; Couturier AM; Masson JY
[Ad] Endereço:Genome Stability Laboratory, CHU de Québec Research Center, HDQ Pavilion, Oncology Axis, 9 McMahon, Québec City, QC G1R 2J6, Canada.
[Ti] Título:The identification of FANCD2 DNA binding domains reveals nuclear localization sequences.
[So] Source:Nucleic Acids Res;45(14):8341-8357, 2017 Aug 21.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Fanconi anemia (FA) is a recessive genetic disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. The FA pathway consists of at least 21 FANC genes (FANCA-FANCV), and the encoded protein products interact in a common cellular pathway to gain resistance against DNA interstrand crosslinks. After DNA damage, FANCD2 is monoubiquitinated and accumulates on chromatin. FANCD2 plays a central role in the FA pathway, using yet unidentified DNA binding regions. By using synthetic peptide mapping and DNA binding screen by electromobility shift assays, we found that FANCD2 bears two major DNA binding domains predominantly consisting of evolutionary conserved lysine residues. Furthermore, one domain at the N-terminus of FANCD2 bears also nuclear localization sequences for the protein. Mutations in the bifunctional DNA binding/NLS domain lead to a reduction in FANCD2 monoubiquitination and increase in mitomycin C sensitivity. Such phenotypes are not fully rescued by fusion with an heterologous NLS, which enable separation of DNA binding and nuclear import functions within this domain that are necessary for FANCD2 functions. Collectively, our results enlighten the importance of DNA binding and NLS residues in FANCD2 to activate an efficient FA pathway.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
DNA/genética
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética
Sinais de Localização Nuclear/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Sítios de Ligação/genética
Linhagem Celular Tumoral
Células Cultivadas
Cromatina/genética
Cromatina/metabolismo
DNA/metabolismo
Dano ao DNA
Reparo do DNA
Proteínas de Ligação a DNA/metabolismo
Anemia de Fanconi/genética
Anemia de Fanconi/metabolismo
Anemia de Fanconi/patologia
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/metabolismo
Células HEK293
Células HeLa
Seres Humanos
Immunoblotting
Lisina/genética
Lisina/metabolismo
Microscopia de Fluorescência
Mutação
Ligação Proteica
Interferência de RNA
Transdução de Sinais/genética
Ubiquitinação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromatin); 0 (DNA-Binding Proteins); 0 (Fanconi Anemia Complementation Group D2 Protein); 0 (Nuclear Localization Signals); 9007-49-2 (DNA); K3Z4F929H6 (Lysine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx543


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[PMID]:28664700
[Au] Autor:Zaucha-Prazmo A; Samardakiewicz M; Dubelt J; Kowalczyk JR
[Ad] Endereço:Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland.
[Ti] Título:Cerebral toxoplasmosis after haematopoietic stem cell transplantation.
[So] Source:Ann Agric Environ Med;24(2):237-239, 2017 May 11.
[Is] ISSN:1898-2263
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Toxoplasmosis is an opportunistic infection caused by the parasite Toxoplasma gondii. The infection is severe and difficult to diagnose in patients receiving allogeneic haematopoietic stem cell transplantation (HSCT). It frequently involves the central nervous system. The case is presented of cerebral toxoplasmosis in a 17-year-old youth with Fanconi anaemia treated with haematopoietic stem cell transplantation (HSCT).
[Mh] Termos MeSH primário: Anemia de Fanconi/cirurgia
Transplante de Células-Tronco Hematopoéticas/efeitos adversos
Complicações Pós-Operatórias/parasitologia
Toxoplasmose Cerebral/parasitologia
[Mh] Termos MeSH secundário: Adolescente
Anticorpos Antiprotozoários/imunologia
Anemia de Fanconi/imunologia
Seres Humanos
Masculino
Complicações Pós-Operatórias/etiologia
Complicações Pós-Operatórias/imunologia
Toxoplasma/isolamento & purificação
Toxoplasma/fisiologia
Toxoplasmose Cerebral/etiologia
Toxoplasmose Cerebral/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Protozoan)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE



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