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  1 / 1608 MEDLINE  
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[PMID]:27771989
[Au] Autor:Martín I; Such E; Navarro B; Vicente A; López-Pavía M; Ibáñez M; Tormo M; Villamón E; Gómez-Seguí I; Luna I; Oltra S; Pedrola L; Sanz MA; Cervera J; Sanz G
[Ad] Endereço:a Department of Hematology , University Hospital La Fe , Valencia , Spain.
[Ti] Título:Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS).
[So] Source:Leuk Lymphoma;58(7):1686-1693, 2017 Jul.
[Is] ISSN:1029-2403
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The incidence of SF3B1 mutations in patients with RARS is high. Recently, it has been shown that SF3B1 and DNMT3A mutations overlap more often than expected, although it is not clear how this could affect the disease. We studied SF3B1 and DNMT3A in 123 RARS patients: 101 out of 123 samples (82%) had somatic mutations in SF3B1, and 13 of them (13%) showed a co-mutation (SF3B1 DNMT3A ). All co-mutated patients had a normal karyotype, and 12 of them (92%) were lower-risk patients (IPSS and IPSS-R). Despite their favorable profile, SF3B1 DNMT3A patients showed a higher RBC transfusion dependency (92% versus 48%, p = .007), a shorter overall survival (OS) (median, 30 versus 97 months, p = .034), and a higher risk of progression to acute myeloid leukemia (AML) at 5 years (25% versus 2%, p = .023) than SF3B1 DNMT3A patients. In conclusion, DNMT3A mutations are present in a significant proportion of SF3B1 patients with a negative clinical impact.
[Mh] Termos MeSH primário: Anemia Refratária/genética
Anemia Refratária/mortalidade
Anemia Sideroblástica/genética
Anemia Sideroblástica/mortalidade
DNA (Citosina-5-)-Metiltransferases/genética
Mutação
Fosfoproteínas/genética
Fatores de Processamento de RNA/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Anemia Refratária/diagnóstico
Anemia Sideroblástica/diagnóstico
Aberrações Cromossômicas
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença
Seres Humanos
Estimativa de Kaplan-Meier
Masculino
Meia-Idade
Fenótipo
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphoproteins); 0 (RNA Splicing Factors); 0 (SF3B1 protein, human); EC 2.1.1.37 (DNA (Cytosine-5-)-Methyltransferases); EC 2.1.1.37 (DNA methyltransferase 3A)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180112
[Lr] Data última revisão:
180112
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1080/10428194.2016.1246725


  2 / 1608 MEDLINE  
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[PMID]:28731922
[Au] Autor:Bhatia P; Singh A; Hedge A
[Ad] Endereço:Pediatric Hematology Oncology Unit, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
[Ti] Título:A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.
[So] Source:J Pediatr Hematol Oncol;39(6):463-465, 2017 Aug.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sideroblastic anemias are a rare group of disorders resulting from defective iron incorporation during heme synthesis and hence characterized by anemia and presence of ringed sideroblasts in bone marrow. The most common form is an X-linked disorder caused by mutations in ALAS2 gene. In the current paper, a case of X-linked sideroblastic anemia caused by a novel homozygous deletional mutation in exon 10 of ALAS2 gene is presented. The female infant developed moderately severe anemia at 6 months of age, which did not improve despite adequate nutritional support. The diagnosis was suspected considering a high plasma ferritin of 740.9 µg/L. The protein structure as predicted by SWISS model was a monomeric form rather than wild-type homodimer, resulting in marked loss of function and protein instability.
[Mh] Termos MeSH primário: 5-Aminolevulinato Sintetase/genética
Anemia Sideroblástica/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Mutação
[Mh] Termos MeSH secundário: Feminino
Ferritinas/sangue
Deleção de Genes
Seres Humanos
Lactente
Modelos Moleculares
Fenótipo
Estabilidade Proteica
Estrutura Quaternária de Proteína
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9007-73-2 (Ferritins); EC 2.3.1.37 (5-Aminolevulinate Synthetase); EC 2.3.1.37 (ALAS2 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170722
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000864


  3 / 1608 MEDLINE  
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[PMID]:28644307
[Au] Autor:Susanto TAK; Bhattacharyya R
[Ad] Endereço:*Department of Paediatric †Department of Paediatrics Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore.
[Ti] Título:X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.
[So] Source:J Pediatr Hematol Oncol;39(5):408-409, 2017 Jul.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.
[Mh] Termos MeSH primário: 5-Aminolevulinato Sintetase/genética
Anemia Sideroblástica/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Mutação
[Mh] Termos MeSH secundário: Adolescente
Anemia Sideroblástica/tratamento farmacológico
Anemia Sideroblástica/etnologia
Anemia Sideroblástica/genética
Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico
Doenças Genéticas Ligadas ao Cromossomo X/etnologia
Doenças Genéticas Ligadas ao Cromossomo X/genética
Hemoglobinas/análise
Seres Humanos
Malásia
Masculino
Piridoxina/uso terapêutico
Caracteres Sexuais
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins); EC 2.3.1.37 (5-Aminolevulinate Synthetase); EC 2.3.1.37 (ALAS2 protein, human); KV2JZ1BI6Z (Pyridoxine)
[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:170624
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000814


  4 / 1608 MEDLINE  
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[PMID]:28484165
[Au] Autor:Harigae H
[Ad] Endereço:Department of Hematology and Rheumatology, Tohoku University, Graduate School of Medicine.
[Ti] Título:Biology of sideroblastic anemia.
[So] Source:Rinsho Ketsueki;58(4):347-352, 2017.
[Is] ISSN:0485-1439
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Sideroblastic anemia is characterized by anemia with ring sideroblasts produced by the bone marrow. Sideroblasts are formed by disutilization and deposit of iron in the mitochondoria. There are two forms of sideroblastic anemia: congenital and acquired. Congenital sideroblastic anemia is caused by mutations in genes involved in heme biosynthesis, iron-sulfur (Fe-S) cluster biogenesis, or mitochondrial metabolism. Although there is a variation in the mutated genes among races, the most common congenital sideroblastic anemia is X-linked sideroblastic anemia caused by mutations in the erythroid-specific δ-aminolevulinate synthase gene, which is the first enzyme of heme biosynthesis in erythroid cells. The most commonly acquired sideroblastic anemia is myelodysplastic syndrome with ring sideroblasts (MDS-RS). It has been shown that the splicing factor 3b subunit 1 (SF3B1) gene, which is a core component of the RNA splicing complex, is highly mutated in MDS-RS, although the underlying mechanism of the onset of the disease by the mutation of the SF3B1 gene remains unclear. Molecular analysis will contribute to the development of effective treatment for congenital and acquired sideroblastic anemia, which are intractable diseases.
[Mh] Termos MeSH primário: Anemia Sideroblástica
[Mh] Termos MeSH secundário: 5-Aminolevulinato Sintetase/genética
Anemia Sideroblástica/congênito
Anemia Sideroblástica/diagnóstico
Anemia Sideroblástica/epidemiologia
Anemia Sideroblástica/genética
Animais
Seres Humanos
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.1.37 (5-Aminolevulinate Synthetase); EC 2.3.1.37 (ALAS2 protein, human)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE
[do] DOI:10.11406/rinketsu.58.347


  5 / 1608 MEDLINE  
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[PMID]:28395030
[Au] Autor:Sommerville EW; Ng YS; Alston CL; Dallabona C; Gilberti M; He L; Knowles C; Chin SL; Schaefer AM; Falkous G; Murdoch D; Longman C; de Visser M; Bindoff LA; Rawles JM; Dean JCS; Petty RK; Farrugia ME; Haack TB; Prokisch H; McFarland R; Turnbull DM; Donnini C; Taylor RW; Gorman GS
[Ad] Endereço:Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.
[Ti] Título:Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
[So] Source:JAMA Neurol;74(6):686-694, 2017 Jun 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder variant. Design, Setting, and Participants: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015. Main Outcome and Measures: The spectrum of clinical features and disease progression in unreported and reported patients with pathogenic YARS2 variants. Results: Seventeen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitochondrial myopathy were identified. Fifteen individuals (88%) exhibited an elevated blood lactate level accompanied by generalized myopathy; only 12 patients (71%) manifested with sideroblastic anemia. Hypertrophic cardiomyopathy (9 [53%]) and respiratory insufficiency (8 [47%]) were also prominent clinical features. Central nervous system involvement was rare. Muscle studies showed global cytochrome-c oxidase deficiency in all patients tested and severe, combined respiratory chain complex activity deficiencies. Microsatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a p.Leu392Ser variant. Immunoblotting from fibroblasts and myoblasts of an affected Scottish patient showed normal YARS2 protein levels and mild respiratory chain complex defects. Yeast modeling of novel missense YARS2 variants closely correlated with the severity of clinical phenotypes. Conclusions and Relevance: The p.Leu392Ser variant is likely a newly identified founder YARS2 mutation. Testing for pathogenic YARS2 variants should be considered in patients presenting with mitochondrial myopathy, characterized by exercise intolerance and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity. Regular surveillance and early treatment for cardiomyopathy and respiratory muscle weakness is advocated because early treatment may mitigate the significant morbidity and mortality associated with this genetic disorder.
[Mh] Termos MeSH primário: Acidose Láctica/genética
Anemia Sideroblástica/genética
Cardiomiopatias/genética
Miopatias Mitocondriais/genética
Debilidade Muscular/genética
Insuficiência Respiratória/genética
Tirosina-tRNA Ligase/genética
[Mh] Termos MeSH secundário: Acidose Láctica/etnologia
Acidose Láctica/etiologia
Adulto
Idoso
Anemia Sideroblástica/etnologia
Anemia Sideroblástica/etiologia
Cardiomiopatias/etnologia
Cardiomiopatias/etiologia
Inglaterra/etnologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Miopatias Mitocondriais/complicações
Miopatias Mitocondriais/etnologia
Debilidade Muscular/etnologia
Debilidade Muscular/etiologia
Mutação
Prognóstico
Insuficiência Respiratória/etnologia
Insuficiência Respiratória/etiologia
Escócia/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
EC 6.1.1.1 (Tyrosine-tRNA Ligase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2016.4357


  6 / 1608 MEDLINE  
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[PMID]:28222336
[Au] Autor:Janusz K; Del Rey M; Abáigar M; Collado R; Ivars D; Hernández-Sánchez M; Valiente A; Robledo C; Benito R; Díez-Campelo M; Ramos F; Kohlmann A; Cañizo CD; Hernández-Rivas JM
[Ad] Endereço:IBMCC, Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Spain; IBSAL, Instituto de Investigación Biomédica de Salamanca, Spain.
[Ti] Título:A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts.
[So] Source:Leuk Res;56:82-87, 2017 May.
[Is] ISSN:1873-5835
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the feasibility of this approach in a clinical setting. 122 bone marrow samples from MDS-RS patients were studied. Initially, exons 14 and 15 of the SF3B1 gene were analyzed by Sanger sequencing. Secondly, they were studied by NGS covering besides SF3B1, SRSF2, U2AF1 and ZRSR2 genes. An 86% of all patients showed mutations in the SF3B1 gene. Six of them, which were not identifiable by conventional sequencing in the first diagnostic step, were revealed by NGS. In addition, 19.5% of cases showed mutations in other splicing genes: SRSF2, U2AF1, and ZRSR2. Furthermore, 8.7% of patients had two mutations in SF3B1, SF3B1 and SRSF2, and SF3B1 and U2AF1, while 5.7% showed no mutations in the four spliceosome-related genes analyzed. The combined use of conventional Sanger and NGS allows the identification of mutations in spliceosome-related genes in almost all MDS patients with RS. This two-step approach is affordable and could be useful as a complementary technique in cases with an unclear diagnosis.
[Mh] Termos MeSH primário: Anemia Sideroblástica/genética
Síndromes Mielodisplásicas/diagnóstico
Síndromes Mielodisplásicas/genética
Spliceossomos/genética
[Mh] Termos MeSH secundário: Anemia Sideroblástica/diagnóstico
Medula Óssea
Seres Humanos
Métodos
Mutação
Fosfoproteínas/genética
Fatores de Processamento de RNA/genética
Análise de Sequência de DNA
Fatores de Processamento de Serina-Arginina/genética
Fator de Processamento U2AF/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphoproteins); 0 (RNA Splicing Factors); 0 (SF3B1 protein, human); 0 (Splicing Factor U2AF); 0 (U2AF1 protein, human); 147153-65-9 (SRSF2 protein, human); 170974-22-8 (Serine-Arginine Splicing Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE


  7 / 1608 MEDLINE  
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[PMID]:28188970
[Au] Autor:Patnaik MM; Tefferi A
[Ad] Endereço:Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.
[Ti] Título:Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management.
[So] Source:Am J Hematol;92(3):297-310, 2017 Mar.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations). MDS/MPN-RS-T, now a formal entity in the MDS/MPN overlap syndromes, has diagnostic features of MDS-RS-SLD, along with a platelet count ≥ 450 × 10(9)/L and large atypical megakaryocytes (similar to BCR-ABL1 negative MPN). MUTATIONS AND KARYOTYPE: Mutations in SF3B1 are seen in ≥80% of patients with MDS-RS-SLD and MDS/MPN-RS-T, and strongly correlate with the presence of BM RS; MDS/MPN-RS-T patients also demonstrate JAK2V617F, ASXL1, DNMT3A, SETBP1, and TET2 mutations; with ASXL1/SETBP1 mutations adversely impacting survival. Cytogenetic abnormalities are uncommon in both diseases. RISK STRATIFICATION: Most patients with MDS-RS-SLD are stratified into lower risk groups by the revised-International Prognostic Scoring System (R-IPSS). Disease outcome in MDS/MPN-RS-T is better than that of MDS-RS-SLD, but worse than that of essential thrombocythemia. Both diseases have a low risk of leukemic TREATMENT: Anemia and iron overload are complications seen in both and are managed similar to lower risk MDS and MPN. Aspirin therapy is reasonable in MDS/MPN-RS-T, especially in the presence of JAK2V617F, but the value of platelet-lowering drugs is uncertain.
[Mh] Termos MeSH primário: Anemia Refratária/diagnóstico
Anemia Sideroblástica/diagnóstico
Síndromes Mielodisplásicas/classificação
Trombocitose/diagnóstico
[Mh] Termos MeSH secundário: Anemia Refratária/classificação
Anemia Refratária/genética
Anemia Sideroblástica/classificação
Anemia Sideroblástica/genética
Seres Humanos
Mutação
Medição de Risco
Trombocitose/classificação
Trombocitose/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170212
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24637


  8 / 1608 MEDLINE  
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[PMID]:28123038
[Au] Autor:Zhang Y; Zhang J; An W; Wan Y; Ma S; Yin J; Li X; Gao J; Yuan W; Guo Y; Engel JD; Shi L; Cheng T; Zhu X
[Ad] Endereço:State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
[Ti] Título:Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.
[So] Source:Nucleic Acids Res;45(2):657-671, 2017 Jan 25.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The first intronic mutations in the intron 1 GATA site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutations of XLSA. However, the function of this int-1-GATA site during in vivo development remains largely unknown. Here, we generated mice lacking a 13 bp fragment, including this int-1-GATA site (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype due to severe anemia resulting from a lack of ALAS2 expression, indicating that this non-coding sequence is indispensable for ALAS2 expression in vivo Further analyses revealed that this int-1-GATA site anchored the GATA site in intron 8 (int-8-GATA) and the proximal promoter, forming a long-range loop to enhance ALAS2 expression by an enhancer complex including GATA1, TAL1, LMO2, LDB1 and Pol II at least, in erythroid cells. However, compared with the int-8-GATA site, the int-1-GATA site is more essential for regulating ALAS2 expression through CRISPR/Cas9-mediated site-specific deletion. Therefore, the int-1-GATA site could serve as a valuable site for diagnosing XLSA in cases with unknown mutations.
[Mh] Termos MeSH primário: 5-Aminolevulinato Sintetase/genética
Sítios de Ligação
Diferenciação Celular
Células Eritroides/citologia
Células Eritroides/metabolismo
Fator de Transcrição GATA1/metabolismo
Íntrons
[Mh] Termos MeSH secundário: Anemia Sideroblástica/genética
Animais
Sequência de Bases
Sistemas CRISPR-Cas
Modelos Animais de Doenças
Elementos Facilitadores Genéticos
Regulação da Expressão Gênica
Genes Letais
Doenças Genéticas Ligadas ao Cromossomo X/genética
Células-Tronco Hematopoéticas/citologia
Células-Tronco Hematopoéticas/metabolismo
Hemizigoto
Seres Humanos
Células K562
Masculino
Mutação
Linhagem
Regiões Promotoras Genéticas
Deleção de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GATA1 Transcription Factor); EC 2.3.1.37 (5-Aminolevulinate Synthetase); EC 2.3.1.37 (ALAS2 protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170615
[Lr] Data última revisão:
170615
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170127
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkw901


  9 / 1608 MEDLINE  
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[PMID]:28072603
[Au] Autor:Lefèvre C; Bondu S; Le Goff S; Kosmider O; Fontenay M
[Ad] Endereço:aInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Descartes bLaboratory of Excellence LabEx GR-Ex cAssistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Centre, Hôpital Cochin, Service d'hématologie biologique, Paris, France.
[Ti] Título:Dyserythropoiesis of myelodysplastic syndromes.
[So] Source:Curr Opin Hematol;24(3):191-197, 2017 May.
[Is] ISSN:1531-7048
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: Myelodysplastic syndromes (MDS) are heterogeneous diseases of the hematopoietic stem cell in the elderly. Anemia is the main symptom that mostly correlates with dysplastic erythropoiesis in the bone marrow. We will review the recent advances in understanding the diverse mechanisms of dyserythropoiesis. RECENT FINDINGS: Dyserythropoiesis defined as 10% dysplastic erythroid cells in the bone marrow is found in more than 80% of early MDS. Immature erythroblasts accumulate at the expense of mature erythroblasts due to differentiation arrest and apoptosis. In early MDS with dyserythropoiesis, caspase-dependent cleavage of the erythroid transcription factor GATA-1 occurring in basophilic erythroblasts accounts for impairment of final maturation. Depending on initiating genetic alteration, specific mechanisms contribute to erythroid defect. In MDS with 5q deletion, the haploinsufficiency of ribosomal protein gene, RPS14, opposes the transition of immature to mature erythroblasts by inducing a p53-dependent ribosome stress, cell cycle arrest and apoptosis. Recent work identifies the activation of a p53-S100A8/9 innate immune pathway that both intrinsically and extrinsically contributes to defective erythropoiesis. In MDS with ring sideroblasts, a paradigm of dyserythropoiesis, a unique mutation in SF3B1 splicing factor gene induces a multiplicity of alterations at RNA level that deeply modifies the patterns of gene expression. SUMMARY: Insights in the pathophysiology of MDS with dyserythropoiesis may guide the choice of the appropriate therapy, for instance lenalidomide in MDS with del(5q). A better understanding of the mechanisms of dyserthropoiesis is required to treat anemia in non-del(5q) MDS, especially in case of resistance to first-line therapy by erythropoiesis-stimulating agents.
[Mh] Termos MeSH primário: Células da Medula Óssea/metabolismo
Medula Óssea/metabolismo
Eritropoese
Síndromes Mielodisplásicas/etiologia
Síndromes Mielodisplásicas/metabolismo
[Mh] Termos MeSH secundário: Anemia Macrocítica/genética
Anemia Macrocítica/metabolismo
Anemia Macrocítica/patologia
Anemia Sideroblástica/etiologia
Anemia Sideroblástica/metabolismo
Anemia Sideroblástica/patologia
Animais
Medula Óssea/patologia
Células da Medula Óssea/patologia
Deleção Cromossômica
Cromossomos Humanos Par 5/genética
Cromossomos Humanos Par 5/metabolismo
Células Eritroides/citologia
Células Eritroides/metabolismo
Células Eritroides/patologia
Eritropoese/genética
Fator de Transcrição GATA1/genética
Fator de Transcrição GATA1/metabolismo
Regulação da Expressão Gênica
Seres Humanos
Imunidade Inata
Mitocôndrias/genética
Mitocôndrias/imunologia
Mitocôndrias/metabolismo
Síndromes Mielodisplásicas/diagnóstico
Processamento de RNA
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (GATA1 Transcription Factor)
[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:170111
[St] Status:MEDLINE
[do] DOI:10.1097/MOH.0000000000000325


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[PMID]:27808451
[Au] Autor:Cattivelli K; Campagna DR; Schmitz-Abe K; Heeney MM; Yaish HM; Caruso Brown AE; Kearney S; Walkovich K; Markianos K; Fleming MD; Neufeld EJ
[Ad] Endereço:Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Italy.
[Ti] Título:Ringed sideroblasts in ß-thalassemia.
[So] Source:Pediatr Blood Cancer;64(5), 2017 May.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Symptomatic ß-thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be more challenging. We describe a series of patients with ß-thalassemia whose diagnosis was delayed, required bone marrow examination in one affected member of each family, and revealed ringed sideroblasts, highlighting the association of this morphological finding with these disorders. Thus, in the absence of characteristic congenital sideroblastic mutations or causes of acquired sideroblastic anemia, the presence of ringed sideroblasts should raise the suspicion of ß-thalassemia.
[Mh] Termos MeSH primário: Anemia Sideroblástica/patologia
Células da Medula Óssea/patologia
Eritroblastos/patologia
Talassemia beta/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anemia Sideroblástica/diagnóstico
Células da Medula Óssea/citologia
Exame de Medula Óssea
Criança
Eritroblastos/citologia
Eritrócitos Anormais
Feminino
Doenças Hematológicas/complicações
Seres Humanos
Lactente
Masculino
Talassemia beta/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171122
[Lr] Data última revisão:
171122
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26324



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