Base de dados : MEDLINE
Pesquisa : D05.750.078.593.450.600 [Categoria DeCS]
Referências encontradas : 69 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 7 ir para página                  

  1 / 69 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28405679
[Au] Autor:Nanashima N; Horie K; Yamada T; Shimizu T; Tsuchida S
[Ad] Endereço:Department of Biomedical Sciences, Hirosaki University Graduate School of Health Sciences, Hirosaki 036-8564, Japan.
[Ti] Título:Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness.
[So] Source:Oncol Rep;37(5):2964-2970, 2017 May.
[Is] ISSN:1791-2431
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Keratins are fibrous proteins. Hair keratins constitute hard structures such as the hair and nails, and cytokeratins have been used as markers of breast carcinoma. However, the expression and function of full-size hair keratin genes have not been previously demonstrated in breast cancer. We investigated the expression of the hair keratin, KRT81, and its function in human breast cancer and normal mammary epithelial cells. Western blotting showed full size 55-kDa KRT81 expression in the human breast cancer cell lines, MCF7, SKBR3 and MDA-MB-231, normal human mammary epithelial cells (HMEC), and non-neoplastic cells (MCF10A). Reverse transcription-polymerase chain reaction revealed that the full size KRT81, including its 5' region is expressed in breast cells. Immunohistochemical and immunofluorescence analyses showed that KRT81 was located in the cytoplasm. To investigate the function of KRT81, we knocked down KRT81 by siRNA in MCF10A cells. Microarray analysis revealed that the expression of genes related to invasion such as matrix metallopeptidase (MMP)9 was decreased. In KRT81-knockdown MDA-MB231 cells, zymography revealed a decrease in MMP9 activity, while scratch and invasion assays revealed that KRT81-knockdown decreased cell migration and invasion abilities. This is the first study showing that full size KRT81 is expressed in normal breast epithelial cells and breast cancer cells. Moreover, our results indicate that KRT81 contributes to the migration and invasion of breast cancer cells.
[Mh] Termos MeSH primário: Neoplasias da Mama/metabolismo
Queratinas Específicas do Cabelo/genética
Queratinas Específicas do Cabelo/metabolismo
Queratinas Tipo II/genética
Queratinas Tipo II/metabolismo
Glândulas Mamárias Humanas/metabolismo
[Mh] Termos MeSH secundário: Neoplasias da Mama/genética
Linhagem Celular Tumoral
Movimento Celular
Citoplasma/metabolismo
Feminino
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Células MCF-7
Invasividade Neoplásica
Análise de Sequência com Séries de Oligonucleotídeos/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRT81 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170414
[St] Status:MEDLINE
[do] DOI:10.3892/or.2017.5564


  2 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26855150
[Au] Autor:Noll EM; Eisen C; Stenzinger A; Espinet E; Muckenhuber A; Klein C; Vogel V; Klaus B; Nadler W; Rösli C; Lutz C; Kulke M; Engelhardt J; Zickgraf FM; Espinosa O; Schlesner M; Jiang X; Kopp-Schneider A; Neuhaus P; Bahra M; Sinn BV; Eils R; Giese NA; Hackert T; Strobel O; Werner J; Büchler MW; Weichert W; Trumpp A; Sprick MR
[Ad] Endereço:Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.
[Ti] Título:CYP3A5 mediates basal and acquired therapy resistance in different subtypes of pancreatic ductal adenocarcinoma.
[So] Source:Nat Med;22(3):278-87, 2016 Mar.
[Is] ISSN:1546-170X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Although subtypes of pancreatic ductal adenocarcinoma (PDAC) have been described, this malignancy is clinically still treated as a single disease. Here we present patient-derived models representing the full spectrum of previously identified quasi-mesenchymal (QM-PDA), classical and exocrine-like PDAC subtypes, and identify two markers--HNF1A and KRT81--that enable stratification of tumors into different subtypes by using immunohistochemistry. Individuals with tumors of these subtypes showed substantial differences in overall survival, and their tumors differed in drug sensitivity, with the exocrine-like subtype being resistant to tyrosine kinase inhibitors and paclitaxel. Cytochrome P450 3A5 (CYP3A5) metabolizes these compounds in tumors of the exocrine-like subtype, and pharmacological or short hairpin RNA (shRNA)-mediated CYP3A5 inhibition sensitizes tumor cells to these drugs. Whereas hepatocyte nuclear factor 4, alpha (HNF4A) controls basal expression of CYP3A5, drug-induced CYP3A5 upregulation is mediated by the nuclear receptor NR1I2. CYP3A5 also contributes to acquired drug resistance in QM-PDA and classical PDAC, and it is highly expressed in several additional malignancies. These findings designate CYP3A5 as a predictor of therapy response and as a tumor cell-autonomous detoxification mechanism that must be overcome to prevent drug resistance.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/metabolismo
Carcinoma Ductal Pancreático/genética
Citocromo P-450 CYP3A/genética
Resistência a Medicamentos Antineoplásicos/genética
Regulação Neoplásica da Expressão Gênica
Fator 1-alfa Nuclear de Hepatócito/metabolismo
Queratinas Específicas do Cabelo/metabolismo
Queratinas Tipo II/metabolismo
Neoplasias Pancreáticas/genética
[Mh] Termos MeSH secundário: Idoso
Animais
Carcinoma Ductal Pancreático/tratamento farmacológico
Carcinoma Ductal Pancreático/metabolismo
Dasatinibe/uso terapêutico
Cloridrato de Erlotinib/uso terapêutico
Feminino
Fator 4 Nuclear de Hepatócito/metabolismo
Seres Humanos
Imuno-Histoquímica
Masculino
Camundongos Endogâmicos NOD
Meia-Idade
Transplante de Neoplasias
Paclitaxel/uso terapêutico
Neoplasias Pancreáticas/tratamento farmacológico
Neoplasias Pancreáticas/metabolismo
Prognóstico
Inibidores de Proteínas Quinases/uso terapêutico
Receptores de Esteroides/metabolismo
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (HNF1A protein, human); 0 (HNF4A protein, human); 0 (Hepatocyte Nuclear Factor 1-alpha); 0 (Hepatocyte Nuclear Factor 4); 0 (KRT81 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II); 0 (Protein Kinase Inhibitors); 0 (Receptors, Steroid); 0 (pregnane X receptor); DA87705X9K (Erlotinib Hydrochloride); EC 1.14.14.1 (CYP3A5 protein, human); EC 1.14.14.1 (Cytochrome P-450 CYP3A); P88XT4IS4D (Paclitaxel); RBZ1571X5H (Dasatinib)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160209
[St] Status:MEDLINE
[do] DOI:10.1038/nm.4038


  3 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26646290
[Au] Autor:Park JY; Jung JY; Kim HJ; Bae IH; Kim DY; Lee TR; Shin DW
[Ad] Endereço:Bioscience Research Institute, Amorepacific Corporation R&D Center, Yongin-si, Gyeonggi-do, Republic of Korea.
[Ti] Título:Hypoxia leads to abnormal epidermal differentiation via HIF-independent pathways.
[So] Source:Biochem Biophys Res Commun;469(2):251-6, 2016 Jan 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Atmospheric oxygen is important for the epidermis, as the skin epidermis is not greatly affected by blood circulation. Therefore, it is necessary to understand the effect of hypoxic signals on the epidermis as some environmental stimuli can induce skin hypoxia. Here, we investigated how hypoxia (1% O2) affected skin equivalents (SEs) and normal human epidermal keratinocytes. We found that hypoxia specifically decreased the protein levels of keratin 1 (K1)/keratin 10 (K10), a representative marker of the epidermal spinous layer in the epidermis. However, hypoxia-inducible factors, the major regulators of hypoxia, did not affect hypoxia-induced down-regulation of K1/K10. We also found that N-acetyl-l-cysteine (NAC), a reactive oxygen species scavenger, antagonized the hypoxia-induced reduction of K1/K10 in keratinocytes and SEs. In contrast to the findings for NAC, inhibitors that blocked reactive oxygen species generation did not cause recovery of K1/K10 protein levels under hypoxic conditions. Taken together, these results indicate that hypoxia leads to abnormal keratinocyte differentiation by down-regulating K1/K10 and that this phenomenon can be ameliorated by NAC.
[Mh] Termos MeSH primário: Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo
Queratinócitos/citologia
Queratinócitos/metabolismo
Queratinas Tipo II/metabolismo
Oxigênio/metabolismo
Transdução de Sinais/fisiologia
[Mh] Termos MeSH secundário: Diferenciação Celular/fisiologia
Hipóxia Celular/fisiologia
Células Cultivadas
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Basic Helix-Loop-Helix Transcription Factors); 0 (Keratins, Type II); S88TT14065 (Oxygen)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:160101
[Lr] Data última revisão:
160101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151210
[St] Status:MEDLINE


  4 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26578733
[Au] Autor:Robles AI; Ryan BM
[Ad] Endereço:Laboratory of Human Carcinogenesis, NCI-CCR, National Institutes of Health, Bethesda, USA.
[Ti] Título:KRT81 miR-SNP rs3660 is associated with risk and survival of NSCLC.
[So] Source:Ann Oncol;27(2):360-1, 2016 Feb.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Carcinoma Pulmonar de Células não Pequenas/genética
Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Neoplasias Pulmonares/genética
MicroRNAs/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:COMMENT; LETTER; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Nm] Nome de substância:
0 (Keratins, Hair-Specific); 0 (Keratins, Type II); 0 (MicroRNAs)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:170201
[Lr] Data última revisão:
170201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151119
[St] Status:MEDLINE
[do] DOI:10.1093/annonc/mdv552


  5 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26578724
[Au] Autor:Lee SY; Choi JE; Park JY
[Ad] Endereço:Lung Cancer Center, Kyungpook National University Medical Center, Daegu, Republic of Korea Department of Internal Medicine.
[Ti] Título:Reply to the letter to the editor 'KRT81 miR-SNP rs3660 is associated with risk and survival of NSCLC' by Robles et al.
[So] Source:Ann Oncol;27(2):361-3, 2016 Feb.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Carcinoma Pulmonar de Células não Pequenas/genética
Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Neoplasias Pulmonares/genética
MicroRNAs/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:COMMENT; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Keratins, Hair-Specific); 0 (Keratins, Type II); 0 (MicroRNAs)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:161017
[Lr] Data última revisão:
161017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151119
[St] Status:MEDLINE
[do] DOI:10.1093/annonc/mdv556


  6 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26340985
[Au] Autor:Langbein L; Eckhart L; Fischer H; Rogers MA; Praetzel-Wunder S; Parry DA; Kittstein W; Schweizer J
[Ad] Endereço:Department of Genetics of Skin Carcinogenesis, German Cancer Research Center, A110, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. langbein@dkfz.de.
[Ti] Título:Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression.
[So] Source:Cell Tissue Res;363(3):735-50, 2016 Mar.
[Is] ISSN:1432-0878
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Among the 26 human type II keratins, K78 is the only one that has not yet been explored with regard to its expression characteristics. Here, we show that, at both the transcriptional and translational levels, K78 is strongly expressed in the basal and parabasal cell layers with decreasing intensity in the lower suprabasal cells of keratinising and non-keratinising squamous epithelia and keratinocyte cultures. The same pattern has been detected at the transcriptional level in the corresponding mouse epithelia. Murine K78 protein, which contains an extraordinary large extension of its tail domain, which is unique among all known keratins, is not detectable by the antibody used. Concomitant studies in human epithelia have confirmed K78 co-expression with the classical basal keratins K5 and K14. Similarly, K78 co-expression with the differentiation-related type I keratins K10 (epidermis) and K13 (non-keratinising epithelia) occurs in the parabasal cell layer, whereas that of the corresponding type II keratins K1 (epidermis) and K4 (non-keratinising epithelia) unequivocally starts subsequent to the respective type I keratins. Our data concerning K78 expression modify the classical concept of keratin pair K5/K14 representing the basal compartment and keratin pairs K1/K10 or K4/K13 defining the differentiating compartment of stratified epithelia. Moreover, the K78 expression pattern and the decoupled K1/K10 and K4/K13 expression define the existence of a hitherto unperceived early differentiation stage in the parabasal layer characterized by K78/K10 or K78/K13 expression.
[Mh] Termos MeSH primário: Epitélio/metabolismo
Regulação da Expressão Gênica
Queratinas Tipo II/genética
Queratinas Tipo II/metabolismo
[Mh] Termos MeSH secundário: Adulto
Sequência de Aminoácidos
Animais
Carcinoma de Células Escamosas/metabolismo
Carcinoma de Células Escamosas/patologia
Desenvolvimento Embrionário
Epiderme/metabolismo
Evolução Molecular
Imunofluorescência
Loci Gênicos
Seres Humanos
Hibridização In Situ
Queratinócitos/metabolismo
Queratinas Tipo II/química
Camundongos Endogâmicos C57BL
Dados de Sequência Molecular
Transporte Proteico
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Análise de Sequência de Proteína
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Keratins, Type II); 0 (RNA, Messenger)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150906
[St] Status:MEDLINE
[do] DOI:10.1007/s00441-015-2278-5


  7 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:25809918
[Au] Autor:Redler S; Pasternack SM; Wolf S; Stienen D; Wenzel J; Nöthen MM; Betz RC
[Ad] Endereço:Institute of Human Genetics, University of Bonn, Bonn, Germany.
[Ti] Título:A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
[So] Source:Clin Exp Dermatol;40(7):781-5, 2015 Oct.
[Is] ISSN:1365-2230
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Monilethrix is a rare monogenic dystrophic hair loss disorder with high levels of intrafamilial and interfamilial variability. It is characterized by diffuse occipital or temporal alopecia, hair fragility and follicular hyperkeratosis of the occipital region. Mutations in the keratin genes KRT81, KRT83 and KRT86 lead to autosomal dominant monilethrix, whereas mutations in the desmoglein 4 gene (DSG4) cause an autosomal recessive form. AIM: To identify the mutation in a consanguineous Turkish family with three affected children and apparently unaffected parents. METHODS: Sequencing analysis of the genes DSG4 and KRT86 was performed. SNaPshot analysis was conducted to quantify the proportion of cells carrying the KRT86 mutation and to confirm maternal mosaicism of KRT86. RESULTS: No pathogenic mutation was found by sequencing analysis of DSG4; however, analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother. The mutation signal was weaker in the mother than in the three siblings, and SNaPshot analysis revealed substantial mutation-level variation between the children and their mother. CONCLUSIONS: Our results extend the spectrum of KRT86 mutations and indicate KRT86 mosaicism in the family examined. This study is the first, to our knowledge, to describe mosaicism for a monogenic hair loss disorder, and suggests that mosaicism leads to a mild manifestation of monilethrix.
[Mh] Termos MeSH primário: Predisposição Genética para Doença/genética
Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Monilétrix/genética
Mosaicismo
Mutação
[Mh] Termos MeSH secundário: Adolescente
Grupo com Ancestrais do Continente Asiático
Criança
Desmogleínas/genética
Feminino
Seres Humanos
Masculino
Linhagem
Turquia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DSG4 protein, human); 0 (Desmogleins); 0 (KRT86 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:150916
[Lr] Data última revisão:
150916
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150327
[St] Status:MEDLINE
[do] DOI:10.1111/ced.12631


  8 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:25716425
[Au] Autor:Lee SY; Choi JE; Jeon HS; Hong MJ; Choi YY; Kang HG; Yoo SS; Lee EB; Jeong JY; Lee WK; Lee J; Cha SI; Kim CH; Kim YT; Jheon S; Son JW; Park JY
[Ad] Endereço:Lung Cancer Center, Kyungpook National University Medical Center, Daegu Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu.
[Ti] Título:A genetic variation in microRNA target site of KRT81 gene is associated with survival in early-stage non-small-cell lung cancer.
[So] Source:Ann Oncol;26(6):1142-8, 2015 Jun.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: MicroRNAs (miRNAs) have a key role in carcinogenesis through negative regulation of their target genes. Therefore, genetic variations in miRNAs or their target sites may affect miRNA-mRNA interactions, thereby result in altered expression of target genes. This study was conducted to investigate the associations between single-nucleotide polymorphisms (SNP) located in the miRNA target sites (poly-miRTSs) and survival of patients with early-stage non-small-cell lung cancer (NSCLC). METHODS: Using public SNP database and miRNA target sites prediction program, 354 poly-miRTSs were selected for genotyping. Among these, 154 SNPs applicable to Sequenom's MassARRAY platform were investigated in 357 patients. A replication study was carried out on an independent patient population (n = 479). Renilla luciferase assay and reverse transcription-polymerase chain reaction were conducted to examine functional relevance of potentially functional poly-miRTSs. RESULTS: Of the 154 SNPs analyzed in a discovery set, 14 SNPs were significantly associated with survival outcomes. Among these, KRT81 rs3660G>C was found to be associated with survival outcomes in the validation cohort. In the combined analysis, patients with the rs3660 GC + CC genotype had a significantly better overall survival compared with those with GG genotype [adjusted hazard ratio (aHR) for OS, 0.65; 95% confidence interval (CI) 0.50-0.85; P = 0.001]. An increased expression of the reporter gene for the C allele of rs3660 compared with the G allele was observed by luciferase assay. Consistently, the C allele was associated with higher relative expression level of KRT81 in tumor tissues. CONCLUSION: The rs3660G>C affects KRT81 expression and thus influences survival in early-stage NSCLC. The analysis of the rs3660G>C polymorphism may be useful to identify patients at high risk of a poor disease outcome.
[Mh] Termos MeSH primário: Carcinoma Pulmonar de Células não Pequenas/genética
Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Neoplasias Pulmonares/genética
MicroRNAs/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas
Idoso
Sítios de Ligação
Carcinoma Pulmonar de Células não Pequenas/metabolismo
Carcinoma Pulmonar de Células não Pequenas/mortalidade
Carcinoma Pulmonar de Células não Pequenas/patologia
Carcinoma Pulmonar de Células não Pequenas/terapia
Biologia Computacional
Bases de Dados Genéticas
Feminino
Perfilação da Expressão Gênica
Regulação Neoplásica da Expressão Gênica
Frequência do Gene
Predisposição Genética para Doença
Células HEK293
Seres Humanos
Estimativa de Kaplan-Meier
Queratinas Específicas do Cabelo/metabolismo
Queratinas Tipo II/metabolismo
Neoplasias Pulmonares/metabolismo
Neoplasias Pulmonares/mortalidade
Neoplasias Pulmonares/patologia
Neoplasias Pulmonares/terapia
Masculino
MicroRNAs/metabolismo
Meia-Idade
Estadiamento de Neoplasias
Fenótipo
Modelos de Riscos Proporcionais
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Fatores de Risco
Fatores de Tempo
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (3' Untranslated Regions); 0 (KRT81 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II); 0 (MicroRNAs); 0 (RNA, Messenger)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:161017
[Lr] Data última revisão:
161017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150227
[St] Status:MEDLINE
[do] DOI:10.1093/annonc/mdv100


  9 / 69 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:25653108
[Au] Autor:Ramot Y; Zlotogorski A
[Ad] Endereço:Department of Dermatology, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
[Ti] Título:Keratins: the hair shaft's backbone revealed.
[So] Source:Exp Dermatol;24(6):416-7, 2015 Jun.
[Is] ISSN:1600-0625
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Mh] Termos MeSH primário: Folículo Piloso/anatomia & histologia
Folículo Piloso/fisiologia
Queratinas/fisiologia
[Mh] Termos MeSH secundário: Seres Humanos
Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Monilétrix/genética
Monilétrix/patologia
Mutação/genética
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRT85 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II); 68238-35-7 (Keratins)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:150518
[Lr] Data última revisão:
150518
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150206
[St] Status:MEDLINE
[do] DOI:10.1111/exd.12654


  10 / 69 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:25557232
[Au] Autor:van Steensel M; Vreeburg M; Urbina MT; López P; Morice-Picard F; van Geel M
[Ad] Endereço:Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.
[Ti] Título:Novel KRT83 and KRT86 mutations associated with monilethrix.
[So] Source:Exp Dermatol;24(3):222-4, 2015 Mar.
[Is] ISSN:1600-0625
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Monilethrix is an autosomal dominant hair disorder caused by mutations in the hard keratins KRT81, KRT83 and KRT86. The affected hairs are fragile and break easily, leading to scarring alopecia. Follicular hyperkeratosis in the neck and on extensor sides of extremities is a frequently associated finding. The disorder is rare, but probably underreported because its manifestations may be mild. Mutations in KRT81 and KRT86 are the most common. Here, we report new cases from Venezuela, the Netherlands, Belgium and France. The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance. In the French and Dutch patients, we found novel KRT86 and KRT83 mutations. Our findings expand the mutational spectrum associated with monilethrix.
[Mh] Termos MeSH primário: Queratinas Específicas do Cabelo/genética
Queratinas Tipo II/genética
Monilétrix/genética
Fenótipo
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Mutação
[Pt] Tipo de publicação:LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KRT81 protein, human); 0 (KRT83 protein, human); 0 (KRT86 protein, human); 0 (Keratins, Hair-Specific); 0 (Keratins, Type II)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:150302
[Lr] Data última revisão:
150302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150106
[St] Status:MEDLINE
[do] DOI:10.1111/exd.12624



página 1 de 7 ir para página                  
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

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