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991.
992.
Jessica L. Flesher Elyse K. Paterson‐Coleman Priya Vasudeva Rolando Ruiz‐Vega Michaela Marshall Eric Pearlman Grant R. MacGregor Jonathan Neumann Anand K. Ganesan 《Pigment cell & melanoma research》2020,33(2):279-292
MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini. It is not completely understood how these isoforms influence pigmentation in different tissues and how the expression of these independent isoforms of MITF is regulated. Here, we show that melanocytes express two isoforms of MITF, MITF‐A and MITF‐M. The expression of MITF‐A is partially regulated by a newly identified retinoid enhancer element located upstream of the MITF‐A promoter. Mitf‐A knockout mice have only subtle changes in melanin accumulation in the hair and reduced Tyr expression in the eye. In contrast, Mitf‐M‐null mice have enlarged kidneys, lack neural crest‐derived melanocytes in the skin, choroid, and iris stroma, yet maintain pigmentation within the retinal pigment epithelium and iris pigment epithelium of the eye. Taken together, these studies identify a critical role for MITF‐M in melanocytes, a minor role for MITF‐A in regulating pigmentation in the hair and Tyr expression in the eye, and a novel role for MITF‐M in size control of the kidney. 相似文献
993.
Ana Blanco Miguel de la Hoya Ana Osorio Orland Diez María Dolores Miramar Mar Infante Cristina Martinez-Bouzas Asunción Torres Adriana Lasa Gemma Llort Joan Brunet Bego?a Gra?a Pedro Perez Segura María José Garcia Sara Gutiérrez-Enríquez ángel Carracedo María-Isabel Tejada Eladio A. Velasco María-Teresa Calvo Judith Balma?a Javier Benitez Trinidad Caldés Ana Vega 《PloS one》2013,8(7)
Background
The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3–4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.Methods
132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification.Results
Two PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%.Conclusions
The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required. 相似文献994.
Lara Pivodic Koen Pardon Lieve Van den Block Viviane Van Casteren Guido Miccinesi Gé A. Donker Tomás Vega Alonso José Lozano Alonso Pierangelo Lora Aprile Bregje D. Onwuteaka-Philipsen Luc Deliens 《PloS one》2013,8(12)
Background
Due to a rising number of deaths from cancer and other chronic diseases a growing number of people experience complex symptoms and require palliative care towards the end of life. However, population-based data on the number of people receiving palliative care in Europe are scarce. The objective of this study is to examine, in four European countries, the number of people receiving palliative care in the last three months of life and the factors associated with receiving palliative care.Methods
Cross-national retrospective study. Over two years (2009–2010), GPs belonging to representative epidemiological surveillance networks in Belgium, the Netherlands, Italy, and Spain registered weekly all deaths of patients (≥18 years) in their practices and the care they received in the last three months of life using a standardized form. Sudden deaths were excluded.Results
We studied 4,466 deaths. GPs perceived to have delivered palliative care to 50% of patients in Belgium, 55% in Italy, 62% in the Netherlands, and 65% in Spain (p<.001). Palliative care specialists attended to 29% of patients in the Netherlands, 39% in Italy, 45% in Spain, and 47% in Belgium (p<.001). Specialist palliative care lasted a median (inter-quartile range) of 15 (23) days in Belgium to 30 (70) days in Italy (p<.001). Cancer patients were more likely than non-cancer patients to receive palliative care in all countries as were younger patients in Italy and Spain with regard to specialist palliative care.Conclusions
Although palliative care is established in the countries studied, there are considerable differences in its provision. Two potentially underserved groups emerge non-cancer patients in all countries and older people in Italy and Spain. Future research should examine how differences in palliative care use relate to both patient characteristics and existing national health care policies. 相似文献995.
996.
M. C. Arias Christiane Atteke S. C. Augusto J. Bailey Pilar Bazaga Luciano B. Beheregaray Laure Benoit Rumsaïs Blatrix Céline Born R. M. Brito Hai‐kui Chen Sara Covarrubias Clara de Vega Champlain Djiéto‐Lordon Marie‐Pierre Dubois F. O. Francisco Cristina García P. H. P. Gonçalves Clementina González Carla Gutiérrez‐Rodríguez Michael P. Hammer Carlos M. Herrera H. Itoh S. Kamimura H. Karaoglu S. Kojima Shou‐Li Li Hannah J. Ling Pável F. Matos‐Maraví Doyle McKey Judicaël Mezui‐M'Eko Juan Francisco Ornelas R. F. Park María I. Pozo Satu Ramula Cristina Rigueiro Jonathan Sandoval‐Castillo L. R. Santiago Miyuki M. Seino Chang‐Bing Song H. Takeshima Anti Vasemägi C. R. Wellings Ji Yan Du Yu‐Zhou Chang‐Rong Zhang Tian‐Yun Zhang 《Molecular ecology resources》2013,13(4):760-762
This article documents the addition of 142 microsatellite marker loci to the Molecular Ecology Resources database. Loci were developed for the following species: Agriophyllum squarrosum, Amazilia cyanocephala, Batillaria attramentaria, Fungal strain CTeY1 (Ascomycota), Gadopsis marmoratus, Juniperus phoenicea subsp. turbinata, Liriomyza sativae, Lupinus polyphyllus, Metschnikowia reukaufii, Puccinia striiformis and Xylocopa grisescens. These loci were cross‐tested on the following species: Amazilia beryllina, Amazilia candida, Amazilia rutila, Amazilia tzacatl, Amazilia violiceps, Amazilia yucatanensis, Campylopterus curvipennis, Cynanthus sordidus, Hylocharis leucotis, Juniperus brevifolia, Juniperus cedrus, Juniperus osteosperma, Juniperus oxycedrus, Juniperus thurifera, Liriomyza bryoniae, Liriomyza chinensis, Liriomyza huidobrensis and Liriomyza trifolii. 相似文献
997.
Tiffany M. Powell‐Wiley Colby R. Ayers James A. de Lemos Susan G. Lakoski Gloria L. Vega Scott Grundy Sandeep R. Das Kamakki Banks‐Richard Michelle A. Albert 《Obesity (Silver Spring, Md.)》2013,21(1):E14-E21
Objectives:
Although psychosocial stress can result in adverse health outcomes, little is known about how perceptions of neighborhood conditions, a measure of environment‐derived stress, may impact obesity. The association between perceptions of neighborhood environment and obesity (defined as body mass index [BMI] ≥ 30 kg/m2) among 5,907 participants in the Dallas Heart Study, a multi‐ethnic, probability‐based sample of Dallas County residents was examined.Design and Methods:
Participants were asked to respond to 18 questions about perceptions of their neighborhood. Factor analysis was used to identify three factors associated with neighborhood perceptions: neighborhood violence, physical environment, and social cohesion. Logistic regression analyses were performed to determine the relationship between each factor (higher quintile = more unfavorable perceptions) and the odds of obesity.Results:
Decreasing age, income, and education associated with unfavorable overall neighborhood perceptions and unfavorable perceptions about specific neighborhood factors (P trend <0.05 for all). Increasing BMI was associated with unfavorable perceptions about physical environment (P trend <0.05) but not violence or social cohesion. After adjustment for race, age, sex, income, education, and length of residence, physical environment perception score in the highest quintile remained associated with a 25% greater odds of obesity (OR 1.25, [95% CI 1.03‐1.50]). Predictors of obesity related to environmental perceptions included heavy traffic (OR 1.39, [1.17‐1.64]), trash/litter in neighborhood (OR 1.27, [1.01‐1.46]), lack of recreational areas (OR 1.21, [1.01‐1.46]), and lack of sidewalks (OR 1.25, [95% CI 1.04‐1.51]).Conclusions:
Thus, unfavorable perceptions of environmental physical conditions are related to increased obesity. Efforts to improve the physical characteristics of neighborhoods, or the perceptions of those characteristics, may assist in the prevention of obesity in this community. 相似文献998.
999.
Carmen Palacios Constantino Cespón Cristina MartÍn de la Vega GarbiÑe Roy Antonio Serrano Matilde Salinas 《Journal of enzyme inhibition and medicinal chemistry》2013,28(6):527-533
The inhibitory effect of gallic acid (3,4,5-trihydroxybenzoic acid), and its ester derivatives methyl, propyl, octyl and lauryl has been tested on the tyrosine kinase activity of affinity purified c-Src from human platelets, using the artificial substrate Poly (Glu.Na, Tyr) 4:1. When tested as inhibitor of the autophosphorylation of the enzyme and the phosphorylation of the protein tyrosine phosphatase SHP-1 by c-Src, lauryl gallate was found to be a more potent inhibitor than other widely used protein tyrosine kinase (PTK) inhibitors such as genistein and herbimycin A. However, lauryl gallate did not inhibit the activity of the serine threonine kinases protein kinase A (PKA) and casein kinase II (CKII) from rat brain. 相似文献
1000.
Alberto González‐Zamora Isolda Luna Vega José Luis Villaseñor Carlos Alberto Ruiz‐Jiménez 《分类学与生物多样性》2013,11(2):135-144
Biogeographical patterns of distribution of 74 species of Asteraceae that inhabit mainly the temperate forests of eastern Mexico were studied usingtrack analysis. Five generalized tracks were identified and conservation areas proposed based on degree of complexity of floristic patterns (Luna et al., 1999) and biotic richness. The northern part of the Sierra Madre Oriental harbours a high concentration of narrowly restricted species. In this area there are four track nodes that coincide with the Mexican priority terrestrial regions (RTPs) proposed by the Comisión Nacional para el Conocimiento y Uso de la Biodiversidad (CONABIO) and with previously identified areas of importance for bird conservation (AICAs). Two more nodes are found in the central and southern part of the Sierra. With the gathered information, we propose particular selected species of Asteraceae to be included in the Mexican areas of endangered species (NOM). 相似文献