Base de dados : MEDLINE
Pesquisa : D05.750.078.593.450.600.100 [Categoria DeCS]
Referências encontradas : 156 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 16 ir para página                         

  1 / 156 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29028840
[Au] Autor:Luo W; Zhou B; Luo Q; Fang H; Zuo X; Zou Y
[Ad] Endereço:Department of Immunology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China.
[Ti] Título:Polymorphism of keratin 1 associates with systemic lupus erythematosus and systemic sclerosis in a south Chinese population.
[So] Source:PLoS One;12(10):e0186409, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Both systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) diseases are related to the genetic and environmental factors, causing damage to the skin. The mutations of keratin 1 gene (KRT1) were reported to associate with skin diseases. The single-nucleotide polymorphism (SNP, rs14024) and the indel polymorphism (cds-indel, rs267607656), consisting mostly of the common haplotypes and could be used for genotyping of KRT1. We used the PCR with sequence specific primers (PCR-SSP) to determine the genotype of KRT1 in 164 SLE, 99 SSc patients, and 418 healthy controls. The results showed that the mutant with G at SNP rs14024 was associated with the high risk to SLE (p = 6.48×10-5) and SSc (p = 8.75×10-5), while the deletion allele at rs267607656 was associated with the low risk to SSc (p = 4.89×10-4) comparing to the normal controls. Haplogenotype, Del-/MU+ was associated with high susceptibility to SLE (OR = 1.87, p = 0.001) and SSc (OR = 2.29, p = 2.34×10-4). In contrast, the Haplogenotype Del+/MU- was associated with resistance to SLE (OR = 0.35, p = 6.24×10-5) and SSc (OR = 0.34, p = 0.001). This study demonstrates that the variations in KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc. Typing KRT1 might be helpful to identify SLE and SSc patients.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Queratina-1/genética
Lúpus Eritematoso Sistêmico/genética
Polimorfismo de Nucleotídeo Único
Escleroderma Sistêmico/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Feminino
Haplótipos
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171014
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186409


  2 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28526297
[Au] Autor:Badowski C; Sim AYL; Verma C; Szeverényi I; Natesavelalar C; Terron-Kwiatkowski A; Harper J; O'Toole EA; Lane EB
[Ad] Endereço:Institute of Medical Biology (A*STAR) & Skin Research Institute of Singapore, Immunos, Singapore.
[Ti] Título:Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.
[So] Source:J Invest Dermatol;137(9):1914-1923, 2017 Sep.
[Is] ISSN:1523-1747
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The terminal domains of suprabasal keratins of the skin epithelium are very resistant to evidence-based structural analysis because of their inherent flexibility and lack of predictable structure. We present a model for the structure and interactions of the head and tail domains of epidermal keratins 1 and 10, based on all-atom 3D simulations of keratin primary amino acid sequences, and tyrosine phosphorylation predictions, extracted from published databases. We observed that keratin 1 and 10 end domains are likely to form a tetrameric terminal domain complex incorporating a reversibly extendable region potentially acting as a molecular spring. This structure is formed by intermolecular stacking of aromatic residues, which would spatially constrain the keratin 1/keratin 10 end domains to allow filament compaction and bundling, whilst also retaining extensibility to ensure flexibility of the keratin filament network in the differentiating epidermis. The tetrameric terminal domain complex model may also help to elucidate the effects of mutations in the end domains of suprabasal keratins and so contribute to understanding of the mechanisms leading to keratinopathies such as striate palmoplantar keratoderma, as reported in this study.
[Mh] Termos MeSH primário: Imagem Tridimensional
Queratina-10/genética
Queratina-1/genética
Ceratodermia Palmar e Plantar/genética
[Mh] Termos MeSH secundário: Células Cultivadas
DNA/análise
Células Epiteliais/metabolismo
Regulação da Expressão Gênica
Seres Humanos
Ceratodermia Palmar e Plantar/patologia
Mutação
Fenótipo
Sensibilidade e Especificidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-1); 147785-83-9 (Keratin-10); 9007-49-2 (DNA)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170521
[St] Status:MEDLINE


  3 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28482041
[Au] Autor:Trivedi S; Uhlemann AC; Herman-Bausier P; Sullivan SB; Sowash MG; Flores EY; Khan SD; Dufrêne YF; Lowy FD
[Ad] Endereço:1Division of Infectious Diseases.
[Ti] Título:The Surface Protein SdrF Mediates Staphylococcus epidermidis Adherence to Keratin.
[So] Source:J Infect Dis;215(12):1846-1854, 2017 Jun 15.
[Is] ISSN:1537-6613
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Background: Staphylococcus epidermidis, a major component of skin flora, is an opportunist, often causing prosthetic device infections. A family of structurally related proteins mediates staphylococcal attachment to host tissues, contributing to the success of S. epidermidis as a pathogen. We examined the ability of the surface protein SdrF to adhere to keratin, a major molecule expressed on the skin surface. Methods: A heterologous Lactococcus lactis expression system was used to express SdrF and its ligand-binding domains. Adherence to keratin types 1 and 10, human foreskin keratinocytes, and nasal epithelial cells was examined. Results: SdrF bound human keratins 1 and 10 and adhered to keratinocytes and epithelial cells. Binding involved both the A and B domains. Anti-SdrF antibodies reduced adherence of S. epidermidis to keratin and keratinocytes. RNA interference reduced keratin synthesis in keratinocytes and, as a result, SdrF adherence. Direct force measurements using atomic force microscopy showed that SdrF mediates bacterial adhesion to keratin 10 through strong and weak bonds involving the A and B regions; strong adhesion was primarily mediated by the A region. Conclusions: These studies demonstrate that SdrF mediates adherence to human keratin and suggest that SdrF may facilitate S. epidermidis colonization of the skin.
[Mh] Termos MeSH primário: Aderência Bacteriana
Proteínas de Bactérias/metabolismo
Queratina-10/metabolismo
Queratina-1/metabolismo
Proteínas de Membrana Transportadoras/metabolismo
Infecções Estafilocócicas/metabolismo
Staphylococcus epidermidis/fisiologia
[Mh] Termos MeSH secundário: Células Epiteliais/citologia
Seres Humanos
Queratinócitos/microbiologia
Lactococcus lactis
Proteínas de Membrana/metabolismo
Microscopia de Força Atômica
Nariz/citologia
Ligação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (Keratin-1); 0 (Membrane Proteins); 0 (Membrane Transport Proteins); 147785-83-9 (Keratin-10)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE
[do] DOI:10.1093/infdis/jix213


  4 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28265584
[Au] Autor:Guo X; Hu J; Luo W; Luo Q; Guo J; Tian F; Ming Y; Zou Y
[Ad] Endereço:Department of Immunology, Xiangya School of Medicine, Central South University, Hunan 410008, China.
[Ti] Título:Analysis of Sera of Recipients with Allograft Rejection Indicates That Keratin 1 Is the Target of Anti-Endothelial Antibodies.
[So] Source:J Immunol Res;2017:8679841, 2017.
[Is] ISSN:2314-7156
[Cp] País de publicação:Egypt
[La] Idioma:eng
[Ab] Resumo:Anti-endothelial cell antibodies (AECAs) are usually directed against the surface antigens on the vascular endothelial cells. Clinical studies suggest a pathogenic role for nonhuman leukocyte antigen in antibody-mediated rejection; however, the antigens on the donor vascular endothelium that serve as the first-line targets for an immune response during allograft rejection have not been fully identified. Here, we used immunoprecipitation and mass spectrometry to identify antigens from the sera of kidney transplant recipients who were experiencing antibody-mediated rejection. Keratin 1 (KRT1) was identified as a novel antigenic target expressed on endothelial cells. To validate our finding, we produced recombinant proteins representing the three most common alleles of KRT1. The serum used for immunoprecipitation showed a strong reaction to KRT1 recombinants in western blot and ELISA. In the kidney transplant cohort, more AECA-positive recipients than AECA-negative recipients had KRT1 antibodies (32.2% versus 11.9%, = 0.002). Sera from 255 renal recipients were tested by ELISA. Of the 77 recipients with deteriorating graft function (serum creatinine > 120 mol/L), 23 had anti-KRT1 antibodies. KRT1-IgG positivity was, therefore, associated with a higher risk of kidney transplant rejection (29.9% (23/77) versus 16.9% (30/178), = 0.0187). A better understanding of this antigenic target will improve long-term allograft survival.
[Mh] Termos MeSH primário: Antígenos/sangue
Autoanticorpos/imunologia
Rejeição de Enxerto/imunologia
Queratina-1/imunologia
[Mh] Termos MeSH secundário: Aloenxertos/imunologia
Autoanticorpos/sangue
Células Endoteliais/imunologia
Ensaio de Imunoadsorção Enzimática
Feminino
Sobrevivência de Enxerto/imunologia
Seres Humanos
Imunoglobulina G/sangue
Imunoglobulina G/imunologia
Imunoglobulina G/isolamento & purificação
Imunoprecipitação
Queratina-1/sangue
Queratina-1/genética
Transplante de Rim/efeitos adversos
Masculino
Espectrometria de Massas
Meia-Idade
Reação em Cadeia da Polimerase
Proteínas Recombinantes/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens); 0 (Autoantibodies); 0 (Immunoglobulin G); 0 (Keratin-1); 0 (Recombinant Proteins); 0 (anti-endothelial cell antibody)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170330
[Lr] Data última revisão:
170330
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170308
[St] Status:MEDLINE
[do] DOI:10.1155/2017/8679841


  5 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28157321
[Au] Autor:Soudy R; Etayash H; Bahadorani K; Lavasanifar A; Kaur K
[Ad] Endereço:Faculty of Pharmacy and Pharmaceutical Sciences, University of Alberta , Edmonton, Alberta T6G 2E1, Canada.
[Ti] Título:Breast Cancer Targeting Peptide Binds Keratin 1: A New Molecular Marker for Targeted Drug Delivery to Breast Cancer.
[So] Source:Mol Pharm;14(3):593-604, 2017 Mar 06.
[Is] ISSN:1543-8392
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The biomarkers or receptors expressed on cancer cells and the targeting ligands with high binding affinity for biomarkers play a key role in early detection and treatment of breast cancer. The breast cancer targeting peptide p160 (12-mer) and its enzymatically stable analogue 18-4 (10-mer) showed marked potential for breast cancer drug delivery using cell studies and animal models. Herein, we used affinity purification, liquid chromatography-tandem mass spectrometry, and proteomics to identify keratin 1 (KRT1) as the target receptor highly expressed on breast cancer cells for p160 peptide(s). Western blot and immunocytochemistry in MCF-7 breast cancer cells confirmed the identity of KRT1. We demonstrate that the p160 or 18-4 binding to MCF-7 breast cancer cells is dependent on the expression of KRT1, and we confirm peptide-KRT1 binding specificity using SPR experiments (K ∼ 1.1 µM and 0.98 µM for p160 and 18-4, respectively). Furthermore, we assessed the ability of peptide 18-4 to improve the cellular uptake and anticancer activity of a pro-apoptotic antimicrobial peptide, microcin J25 (MccJ25), in breast cancer cells. A covalent conjugate of peptide 18-4 with MccJ25 showed preferential cytotoxicity toward breast cancer cells with minimal cytotoxicity against normal HUVEC cells. The conjugate inhibited the growth of MDA-MB-435 MDR multidrug-resistant cells with an IC comparable to that of nonresistant cells. Conjugation improved selective cellular uptake of MccJ25, and the conjugate triggered cancer cell death by apoptosis. Our findings establish KRT1 as a new marker for breast cancer targeting. Additionally, it pinpoints the potential use of antimicrobial lasso peptides as a novel class of anticancer therapeutics.
[Mh] Termos MeSH primário: Bacteriocinas/farmacologia
Biomarcadores Tumorais/metabolismo
Neoplasias da Mama/tratamento farmacológico
Neoplasias da Mama/metabolismo
Queratina-1/metabolismo
Peptídeos/farmacologia
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Antineoplásicos/farmacologia
Linhagem Celular
Linhagem Celular Tumoral
Sistemas de Liberação de Medicamentos/métodos
Resistência a Múltiplos Medicamentos/efeitos dos fármacos
Resistência a Medicamentos Antineoplásicos/efeitos dos fármacos
Feminino
Células Endoteliais da Veia Umbilical Humana
Seres Humanos
Ligantes
Células MCF-7
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Bacteriocins); 0 (Biomarkers, Tumor); 0 (Keratin-1); 0 (Ligands); 0 (Peptides); 1403-96-9 (microcin)
[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:170204
[St] Status:MEDLINE
[do] DOI:10.1021/acs.molpharmaceut.6b00652


  6 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28111259
[Au] Autor:Dong X; Liu Z; Lan D; Niu J; Miao J; Yang G; Zhang F; Sun Y; Wang K; Miao Y
[Ad] Endereço:Department of Gastroenterology, First Affiliated Hospital of Kunming Medical University, Yunnan Institute of Digestive Diseases, Kunming 650032, China.
[Ti] Título:Critical role of Keratin 1 in maintaining epithelial barrier and correlation of its down-regulation with the progression of inflammatory bowel disease.
[So] Source:Gene;608:13-19, 2017 Apr 15.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Inflammatory bowel disease (IBD) is the result of a chronic intestinal inflammatory response which usually occurred in colon and small intestine. Keratins constitute the intermediate filament cytoskeleton in all epithelia. The present study was intended to explore the role of Keratin 1 (KRT1) in the progress of IBD. In normal intestinal tissue, the expression of KRT1 was detected by RT-PCR and Western blot. The levels of KRT1 protein significantly decreased in serum samples of IBD patients as compared with sera of healthy controls. Immunohistochemistry revealed that the expression of KRT1 decreased in various intestinal diseases, especially in Crohn's disease and ulcerative colitis. Furthermore, down-regulated KRT1 was correlated with the severity of IBD. The overexpression of KRT1 maintained epithelial barrier in Caco-2 cells after IL-1ß treatment. Furthermore, IL-1ß-induced disruption of tight junction became significantly attenuated in KRT1 over-expressing Caco-2 cells as compared with control cells. Thus, KRT1 played an important role of maintaining epithelial barrier and its down-regulation in intestinal tissue was correlated with the progression of IBD.
[Mh] Termos MeSH primário: Doenças Inflamatórias Intestinais/genética
Doenças Inflamatórias Intestinais/patologia
Mucosa Intestinal/patologia
Queratina-1/fisiologia
Junções Íntimas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Células CACO-2
Estudos de Casos e Controles
Células Cultivadas
Criança
Progressão da Doença
Regulação para Baixo
Feminino
Seres Humanos
Mucosa Intestinal/metabolismo
Queratina-1/genética
Masculino
Meia-Idade
Junções Íntimas/metabolismo
Junções Íntimas/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRT1 protein, human); 0 (Keratin-1)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170307
[Lr] Data última revisão:
170307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170124
[St] Status:MEDLINE


  7 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27722766
[Au] Autor:Severino-Freire M; Jonca N; Pichery M; Tournier E; Chassaing N; Mazereeuw-Hautier J
[Ad] Endereço:Department of Dermatology, Toulouse University Hospital, Toulouse, 24 chemin de Pouvourville TSA 30030, FR-31059 Toulouse cedex 9, France. maella.severino@hotmail.fr.
[Ti] Título:Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
[So] Source:Acta Derm Venereol;97(3):387-388, 2017 03 10.
[Is] ISSN:1651-2057
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Mh] Termos MeSH primário: Hiperceratose Epidermolítica/genética
Queratina-10/genética
Queratina-1/genética
Mosaicismo
Mutação
[Mh] Termos MeSH secundário: Adolescente
Adulto
Análise Mutacional de DNA
Diagnóstico Diferencial
Feminino
Predisposição Genética para Doença
Seres Humanos
Hiperceratose Epidermolítica/diagnóstico
Masculino
Fenótipo
Valor Preditivo dos Testes
Pele/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRT1 protein, human); 0 (KRT10 protein, human); 0 (Keratin-1); 147785-83-9 (Keratin-10)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170505
[Lr] Data última revisão:
170505
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161011
[St] Status:MEDLINE
[do] DOI:10.2340/00015555-2542


  8 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27595935
[Au] Autor:Bunick CG; Milstone LM
[Ad] Endereço:Department of Dermatology, Yale University, New Haven, Connecticut, USA. Electronic address: christopher.bunick@yale.edu.
[Ti] Título:The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.
[So] Source:J Invest Dermatol;137(1):142-150, 2017 Jan.
[Is] ISSN:1523-1747
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Keratins 1 (K1) and 10 (K10) are the primary keratins expressed in differentiated epidermis. Mutations in K1/K10 are associated with human skin diseases. We determined the crystal structure of the complex between the distal (2B) helices of K1 and K10 to better understand how human keratin structure correlates with function. The 3.3 Å resolution structure confirms many features inferred by previous biochemical analyses, but adds unexpected insights. It demonstrates a parallel, coiled-coil heterodimer with a predominantly hydrophobic intermolecular interface; this heterodimer formed a higher order complex with a second K1-K10-2B heterodimer via a Cys401 disulfide link, although the bond angle is unanticipated. The molecular surface analysis of K1-K10-2B identified several pockets, one adjacent to the disulfide linkage and conserved in K5-K14. The solvent accessible surface area of the K1-K10 structure is 20-25% hydrophobic. The 2B region contains mixed acidic and basic patches proximally (N-terminal), whereas it is largely acidic distally (C-terminal). Mapping of conserved and nonconserved residues between K1-K10 and K5-K14 onto the structure demonstrated the majority of unique residues align along the outer helical ridge. Finally, the structure permitted a fresh analysis of the deleterious effects caused by K1/K10 missense mutations found in patients with phenotypic skin disease.
[Mh] Termos MeSH primário: Queratina-10/genética
Queratina-1/genética
Estrutura Molecular
Dermatopatias/genética
[Mh] Termos MeSH secundário: Células Cultivadas
Epiderme/citologia
Epiderme/metabolismo
Seres Humanos
Queratina-1/química
Queratina-10/química
Mutação de Sentido Incorreto
Sensibilidade e Especificidade
Dermatopatias/patologia
Propriedades de Superfície
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-1); 147785-83-9 (Keratin-10)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160907
[St] Status:MEDLINE


  9 / 156 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27666198
[Au] Autor:Zhang J; Zhang G; Ni C; Cheng R; Liang J; Li M; Yao Z
[Ad] Endereço:Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
[Ti] Título:Nagashima-type palmoplantar keratosis in a Chinese Han population.
[So] Source:Mol Med Rep;14(5):4049-4054, 2016 Nov.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome.
[Mh] Termos MeSH primário: Testes Genéticos
Ceratodermia Palmar e Plantar/genética
Serpinas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Antígenos Ly/genética
Aquaporina 5/genética
Grupo com Ancestrais do Continente Asiático
Criança
Pré-Escolar
China
Cistatina A/genética
Feminino
Efeito Fundador
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Homozigoto
Seres Humanos
Lactente
Queratina-1/genética
Queratina-9/genética
Ceratodermia Palmar e Plantar/patologia
Masculino
Meia-Idade
Mutação
Linhagem
Ativador de Plasminogênio Tipo Uroquinase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AQP5 protein, human); 0 (Antigens, Ly); 0 (Aquaporin 5); 0 (Cystatin A); 0 (KRT1 protein, human); 0 (KRT9 protein, human); 0 (Keratin-1); 0 (Keratin-9); 0 (SERPINB7 protein, human); 0 (SLURP1 protein, human); 0 (Serpins); 80209-89-8 (CSTA protein, human); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170410
[Lr] Data última revisão:
170410
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160927
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.5757


  10 / 156 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27664712
[Au] Autor:Lim YH; Choate KA
[Ad] Endereço:Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
[Ti] Título:Expanding the Mutation Spectrum of Ichthyosis with Confetti.
[So] Source:J Invest Dermatol;136(10):1941-1943, 2016 Oct.
[Is] ISSN:1523-1747
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
[Mh] Termos MeSH primário: Ictiose/genética
Queratina-10/genética
[Mh] Termos MeSH secundário: Seres Humanos
Ictiose Lamelar
Queratina-1/genética
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-1); 147785-83-9 (Keratin-10)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171121
[Lr] Data última revisão:
171121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160925
[St] Status:MEDLINE



página 1 de 16 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