排序方式: 共有57条查询结果,搜索用时 187 毫秒
41.
N Garcia Segarra L Mittaz AB Campos-Xavier CF Bartels B Tuysuz Y Alanay R Cimaz V Cormier-Daire M Di Rocco HC Duba NH Elcioglu F Forzano T Hospach E Kilic JB Kuemmerle-Deschner G Mortier S Mrusek S Nampoothiri E Obersztyn RM Pauli A Selicorni R Tenconi S Unger GE Utine M Wright B Zabel ML Warman A Superti-Furga L Bonafé 《American journal of medical genetics. Part C, Seminars in medical genetics》2012,(3):217-229
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. Bony enlargement at the interphalangeal joints progresses leading to camptodactyly. Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. The femoral heads are large and the acetabulum forms a distinct "lip" overriding the femoral head. There is a progressive narrowing of all articular spaces as articular cartilage is lost. Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. Subsequent knee joint replacement is a further option. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases in our series. Intronic mutations in WISP3 leading to splicing aberrations can be detected only in cDNA from fibroblasts and therefore a skin biopsy is indicated when genomic analysis fails to reveal mutations in individuals with otherwise typical signs and symptoms. In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti-inflammatory and immunosuppressive treatments. Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis. 相似文献
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Microorganisms use phase variation to increase population diversity to maximize evolutionary success. One such variation is the smooth to rugose phenotype change in Vibrio cholerae. We determined that the variation between smooth and rugose phenotypes can be controlled by a single nucleotide change in a gene (vpvC) predicted to encode a diguanylate cyclase. The vpvC allele found in the rugose genetic background is more active at producing c-di-GMP while that in smooth genetic background is less active. In support of this finding, disruption of vpvC in the rugose genetic variant decreases cellular c-di-GMP levels, diminishes rugose-associated phenotypes and yields a smooth variant. Furthermore, the frequency of phase variation decreases dramatically when the vpvC locus is deleted in the smooth genetic background. Evidence is presented that the rugose variant is less susceptible to phage infection than the smooth variant. As phage infection is known to control populations of V. cholerae and thus outbreaks of cholera, phase variation may increase the evolutionary success of the pathogen. 相似文献
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Genotype × environment interaction analysis of North American shrub willow yield trials confirms superior performance of triploid hybrids 下载免费PDF全文
Eric S. Fabio Timothy A. Volk Raymond O. Miller Michelle J. Serapiglia Hugh G. Gauch Ken C. J. Van Rees Ryan D. Hangs Beyhan Y. Amichev Yulia A. Kuzovkina Michel Labrecque Gregg A. Johnson Robert G. Ewy Gary J. Kling Lawrence B. Smart 《Global Change Biology Bioenergy》2017,9(2):445-459
Development of dedicated bioenergy crop production systems will require accurate yield estimates, which will be important for determining many of the associated environmental and economic impacts of their production. Shrub willow (Salix spp) is being promoted in areas of the USA and Canada due to its adaption to cool climates and wide genetic diversity available for breeding improvement. Willow breeding in North America is in an early stage, and selection of elite genotypes for commercialization will require testing across broad geographic regions to gain an understanding of how shrub willow interacts with the environment. We analyzed a dataset of first‐rotation shrub willow yields of 16 genotypes across 10 trial environments in the USA and Canada for genotype‐by‐environment interactions using the additive main effects and multiplicative interactions (AMMI) model. Mean genotype yields ranged from 5.22 to 8.58 oven‐dry Mg ha?1 yr?1. Analysis of the main effect of genotype showed that one round of breeding improved yields by as much as 20% over check cultivars and that triploid hybrids, most notably Salix viminalis × S. miyabeana, exhibited superior yields. We also found important variability in genotypic response to environments, which suggests specific adaptability could be exploited among 16 genotypes for yield gains. Strong positive correlations were found between environment main effects and AMMI parameters and growing environment temperatures. These findings demonstrate yield improvements are possible in one generation and will be important for developing cultivar recommendations and for future breeding efforts. 相似文献
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Florian Kopp Adam Hermawan Prajakta Shirish Oak Vijay Kumar Ulaganathan Annika Herrmann Nefertiti Elnikhely Chitra Thakur Zhiguang Xiao Pjotr Knyazev Beyhan Ataseven Rajkumar Savai Ernst Wagner Andreas Roidl 《Translational oncology》2014,7(6):702-711
Acquiring therapy resistance is one of the major obstacles in the treatment of patients with cancer. The discovery of the cancer stem cell (CSC)–specific drug salinomycin raised hope for improved treatment options by targeting therapy-refractory CSCs and mesenchymal cancer cells. However, the occurrence of an acquired salinomycin resistance in tumor cells remains elusive. To study the formation of salinomycin resistance, mesenchymal breast cancer cells were sequentially treated with salinomycin in an in vitro cell culture assay, and the resulting differences in gene expression and salinomycin susceptibility were analyzed. We demonstrated that long-term salinomycin treatment of mesenchymal cancer cells resulted in salinomycin-resistant cells with elevated levels of epithelial markers, such as E-cadherin and miR-200c, a decreased migratory capability, and a higher susceptibility to the classic chemotherapeutic drug doxorubicin. The formation of salinomycin resistance through the acquisition of epithelial traits was further validated by inducing mesenchymal-epithelial transition through an overexpression of miR-200c. The transition from a mesenchymal to a more epithelial-like phenotype of salinomycin-treated tumor cells was moreover confirmed in vivo, using syngeneic and, for the first time, transgenic mouse tumor models. These results suggest that the acquisition of salinomycin resistance through the clonal selection of epithelial-like cancer cells could become exploited for improved cancer therapies by antagonizing the tumor-progressive effects of epithelial-mesenchymal transition. 相似文献
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Histological structures of esophagus and stomach tissue samples of Lacerta stellio have been studied, and glycosaminoglycan (GAG) distribution has been histochemically determined. Histologically, esophagus and stomach of L. stellio are composed of four layers: mucosa, submucosa, muscularis mucosae and serosa. Mucosa of esophagus is covered by simple columnar ciliated epithelium with many mucous secreting goblet cells and contains branched tubular glands.Stomach of L. stellio is composed of fundus (oral and aboral) and pylorus regions. Mucosa is covered by columnar epithelium. Fundic glands are branched tubular glands while pyloric glands are usually simple tubular glands. In both regions of the stomach, glands are subdivided into three areas as base, neck and isthmus. Both in the esophagus and stomach, muscular layer is in the form of smooth muscle having inner circular and outer longitudinal layers.According to the results obtained by Alcian Blue (pH 5.8)/Periodic Acid Schiff staining, stomach is similar to esophagus in that neutral mucins and hyaluronic acid (HA) are dominant in isthmus and neck regions of gland tissue of stomach. In the base of the stomach, only neutral mucins have been observed. HA has been observed to be dominant in all other regions of both stomach and esophagus, along with some but not much sulphated GAGs. 相似文献
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CYP 2E1 is involved in metabolic activation of carcinogenic N-nitrosamines, benzene, urethane and other low molecular weight compounds. CYP2E1 gene is present in the population in various polymorphic forms. We detected the RFLP of the human CYP2E1 gene with the restriction endonuclease PstI, RsaI and DraI in a group of 153 Turkish individuals. According to the results of the PstI/RsaI analysis, 96.07% of the subjects were of the c1/c1 genotype, and 3.93% were of the c1/c2 genotype. In the DraI RFLP analysis, 84.30% DD genotype, 15.03% CD genotype and 0.66% CC genotype were determined. The data obtained may be useful in epidemiological studies of the influence of CYP2E1 polymorphism on carcinogenesis. 相似文献
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We report herein the establishment of three bovine pluripotent embryonic cell lines derived from 8-16-cell precompacting embryos. Two cell lines were cultured for 10 passages and underwent spontaneous differentiation. One cell line (Z2) has been cultured continuously for over 3 years and has remained undifferentiated. These cells express cell surface markers that have been used routinely to characterize embryonic stem (ES) and embryonic germ (EG) cells in other species such as stage-specific embryonic antigens SSEA-1, SSEA-3, and SSEA-4, and c-Kit receptor. In the absence of a feeder layer, these cells differentiated into a variety of cell types and formed embryoid bodies (EBs). When cultured for an extended period of time, EBs differentiated into derivatives of three EG layers - mesoderm, ectoderm, and endoderm - which were characterized by detection of specific cell surface markers. Our results indicate that the Z2 cell line is pluripotent and resembles an ES cell line. To our knowledge, this is the first bovine embryonic cell line that has remained pluripotent in culture for more than 150 passages. 相似文献
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Ashleigh E. Schaffer Veerle R.C. Eggens Ahmet Okay Caglayan Miriam S. Reuter Eric Scott Nicole G. Coufal Jennifer L. Silhavy Yuanchao Xue Hulya Kayserili Katsuhito Yasuno Rasim Ozgur Rosti Mostafa Abdellateef Caner Caglar Paul R. Kasher J. Leonie Cazemier Marian A. Weterman Vincent Cantagrel Na Cai Christiane Zweier Umut Altunoglu N. Bilge Satkin Fesih Aktar Beyhan Tuysuz Cengiz Yalcinkaya Huseyin Caksen Kaya Bilguvar Xiang-Dong Fu Christopher R. Trotta Stacey Gabriel André Reis Murat Gunel Frank Baas Joseph G. Gleeson 《Cell》2014
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Catherine Bui Céline Huber Beyhan Tuysuz Yasemin Alanay Christine Bole-Feysot Jules G. Leroy Geert Mortier Patrick Nitschke Arnold Munnich Valérie Cormier-Daire 《American journal of human genetics》2014,94(3):405-414
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. We report here the identification of five distinct homozygous xylosyltransferase 1 (XYLT1) mutations in seven DBQD type 2 subjects from six consanguineous families. Among the five mutations, four were expected to result in loss of function and a drastic reduction of XYLT1 cDNA level was demonstrated in two cultured individual fibroblasts. Because xylosyltransferase 1 (XT-I) catalyzes the very first step in proteoglycan (PG) biosynthesis, we further demonstrated in the two individual fibroblasts a significant reduction of cellular PG content. Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. This observation sheds light on the key role of the XT-I during the ossification process. 相似文献