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1.
Diego A. Miranda Ji-Hyun Kim Long N. Nguyen Wang Cheng Bryan C. Tan Vera J. Goh Jolene S. Y. Tan Jadegoud Yaligar Bhanu Prakash KN S. Sendhil Velan Hongyan Wang David L. Silver 《The Journal of biological chemistry》2014,289(14):9560-9572
Triglycerides within the cytosol of cells are stored in a phylogenetically conserved organelle called the lipid droplet (LD). LDs can be formed at the endoplasmic reticulum, but mechanisms that regulate the formation of LDs are incompletely understood. Adipose tissue has a high capacity to form lipid droplets and store triglycerides. Fat storage-inducing transmembrane protein 2 (FITM2/FIT2) is highly expressed in adipocytes, and data indicate that FIT2 has an important role in the formation of LDs in cells, but whether FIT2 has a physiological role in triglyceride storage in adipose tissue remains unproven. Here we show that adipose-specific deficiency of FIT2 (AF2KO) in mice results in progressive lipodystrophy of white adipose depots and metabolic dysfunction. In contrast, interscapular brown adipose tissue of AF2KO mice accumulated few but large LDs without changes in cellular triglyceride levels. High fat feeding of AF2KO mice or AF2KO mice on the genetically obese ob/ob background accelerated the onset of lipodystrophy. At the cellular level, primary adipocyte precursors of white and brown adipose tissue differentiated in vitro produced fewer but larger LDs without changes in total cellular triglyceride or triglyceride biosynthesis. These data support the conclusion that FIT2 plays an essential, physiological role in fat storage in vivo. 相似文献
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Roberto Giorda M. Clara Bonaglia Silvana Beri Francesca Novara Jill Urquhart Claudio Zucca Susan Marelli Daniela Di Benedetto Girolamo A. Vitello Santina Reitano Francesca Bisulli Massimo Mastrangelo Luigina Spaccini Elena Fontana Jill Clayton-Smith Philippe Jonveaux Marco Seri Bernardo dalla Bernardina 《American journal of human genetics》2009,85(3):394-400
Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic mental retardation (MR) by using whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) and identified familial and de novo recurrent Xp11.22-p11.23 duplications in males and females with MR, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. The size of the duplications ranges from 0.8–9.2 Mb. Most affected females show preferential activation of the duplicated X chromosome. Carriers of the smallest duplication show X-linked recessive inheritance. All other affected individuals present dominant expression and comparable clinical phenotypes irrespective of sex, duplication size, and X-inactivation pattern. The majority of the rearrangements are mediated by recombination between flanking complex segmental duplications. The identification of common clinical features, including the typical EEG pattern, predisposing genomic structure, and peculiar X-inactivation pattern, suggests that duplication of Xp11.22-p11.23 constitutes a previously undescribed syndrome. 相似文献
4.
Proliferating cell nuclear antigen (PCNA) as a proliferative marker during embryonic and adult zebrafish hematopoiesis 总被引:4,自引:1,他引:3
Leung AY Leung JC Chan LY Ma ES Kwan TT Lai KN Meng A Liang R 《Histochemistry and cell biology》2005,124(2):105-111
We investigated the expression of proliferative cell nuclear antigen (PCNA) in zebrafish to delineate the proliferative hematopoietic
component during adult and embryonic hematopoiesis. Immunostaining for PCNA and enhanced green fluorescence protein (eGFP)
was performed in wild-type and fli1-eGFP (endothelial marker) and gata1-eGFP (erythroid cell marker) transgenic fish. Expression
of PCNA mRNA was examined in wild-type and chordin morphant embryos. In adult zebrafish kidney, the renal tubules are surrounded
by endothelial cells and it is separated into hematopoietic and excretory compartments. PCNA was expressed in hematopoietic
progenitor cells but not in mature neutrophils, eosinophils or erythroid cells. Some PCNA+ cells are scattered in the hematopoietic
compartment of the kidney while others are closely associated with renal tubular cells. PCNA was also expressed in spermatogonial
stem cells and intestine crypts, consistent with its role in cell proliferation and DNA synthesis. In embryos, PCNA is expressed
in the brain, spinal cord and intermediate cell mass (ICM) at 24 h-post fertilization. In chordin morphants, PCNA is significantly
upregulated in the expanded ICM. Therefore, PCNA can be used to mark cell proliferation in zebrafish hematopoietic tissues
and to identify a population of progenitor cells whose significance would have to be further investigated. 相似文献
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Mariastella Colomba Fabio Liberto Armando Gregorini Walter Renda Agatino Reitano Ignazio Sparacio 《Biologia》2014,69(6):771-779
Currently, the Cochlostoma (Holcopoma) westerlundi (Paulucci, 1879) group includes three subspecies inhabiting southern Italy up to southeastern Sicily. C. w. westerlundi (Paulucci, 1879) is limited to southern Calabria, C. w. yapigium (Westerlund, 1885) is widespread across the Salento (the southeastern extremity of the Apulia region) and C. w. dionysii (Paulucci, 1879) is endemic to the environs of Siracusa (SE Sicily). There is also a fourth taxon, C. paganum (Westerlund, 1885) described for Otranto (LE, Apulia), considered a synonym of C. w. yapigium. Up to now, the molecular genetics of C. westerlundi s.l. have been unknown and the morphological data of several populations are still lacking. Hence, the systematic classification of the group is tentative. Aiming at filling this gap, mtDNA (16S rDNA and COI) partial sequences were investigated and, in addition, the reproductive apparatus of C. w. westerlundi was described for the first time. Molecular sequences and anatomical data were used to test the taxonomic and phylogenetic status of the examined populations. Maximum Likelihood and Bayesian analysis revealed three clusters, strongly supported, corresponding to the three taxa. For the first time, synonymy between paganum and yapigium was confirmed by molecular evidence. Genetic distances between groups (DxyJC) ranged from 2.6% to 5% (16S rDNA) and from 6.3% to 8.3% (COI). Molecular and morphological data led us to suggest elevating the three subspecies to the species rank. 相似文献
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In this article, we report the synthesis of Na2Sr1‐x(PO4)F:Eux phosphor via a combustion method. The influence of different annealing temperatures on the photoluminescence properties was investigated. The phosphor was excited at both 254 and 393 nm. Na2Sr1‐x(PO4)F:Eux3+ phosphors emit strong orange and red color at 593 and 612 nm, respectively, under both excitation wavelengths. Na2Sr1‐x(PO4)F:Eux3+ phosphors annealed at 1050°C showed stronger emission intensity compared with 600, 900 and 1200°C. Moreover, Na2Sr1‐x(PO4)F:Eux3+ phosphor was found to be more intense when compared with commercial Y2O3:Eu3+ phosphor. Copyright © 2013 John Wiley & Sons, Ltd. 相似文献
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Valeria Valente Silvia A Teixeira Luciano Neder Oswaldo K Okamoto Sueli M Oba-Shinjo Suely KN Marie Carlos A Scrideli Maria L Pa?ó-Larson Carlos G Carlotti 《BMC molecular biology》2009,10(1):17
Background
Considering the broad variation in the expression of housekeeping genes among tissues and experimental situations, studies using quantitative RT-PCR require strict definition of adequate endogenous controls. For glioblastoma, the most common type of tumor in the central nervous system, there was no previous report regarding this issue. 相似文献9.
Bonaglia MC Giorda R Beri S De Agostini C Novara F Fichera M Grillo L Galesi O Vetro A Ciccone R Bonati MT Giglio S Guerrini R Osimani S Marelli S Zucca C Grasso R Borgatti R Mani E Motta C Molteni M Romano C Greco D Reitano S Baroncini A Lapi E Cecconi A Arrigo G Patricelli MG Pantaleoni C D'Arrigo S Riva D Sciacca F Dalla Bernardina B Zoccante L Darra F Termine C Maserati E Bigoni S Priolo E Bottani A Gimelli S Bena F Brusco A di Gregorio E Bagnasco I Giussani U Nitsch L Politi P 《PLoS genetics》2011,7(7):e1002173
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We characterized at the molecular level the genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple terminal deletions (72%), ring chromosomes (14%), and unbalanced translocations (7%). We also discovered interstitial deletions between 17-74 kb in 9% of the patients. Haploinsufficiency of the SHANK3 gene, confirmed in all rearrangements, is very likely the cause of the major neurological features associated with PMS. SHANK3 mutations can also result in language and/or social interaction disabilities. We determined the breakpoint junctions in 29 cases, providing a realistic snapshot of the variety of mechanisms driving non-recurrent deletion and repair at chromosome ends. De novo telomere synthesis and telomere capture are used to repair terminal deletions; non-homologous end-joining or microhomology-mediated break-induced replication is probably involved in ring 22 formation and translocations; non-homologous end-joining and fork stalling and template switching prevail in cases with interstitial 22q13.3. For the first time, we also demonstrated that distinct stabilizing events of the same terminal deletion can occur in different early embryonic cells, proving that terminal deletions can be repaired by multistep healing events and supporting the recent hypothesis that rare pathogenic germline rearrangements may have mitotic origin. Finally, the progressive clinical deterioration observed throughout the longitudinal medical history of three subjects over forty years supports the hypothesis of a role for SHANK3 haploinsufficiency in neurological deterioration, in addition to its involvement in the neurobehavioral phenotype of PMS. 相似文献
10.
Genomic analysis of the relationship between gene expression variation and DNA polymorphism in Drosophila simulans
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