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  • 1
    Publication Date: 2018
    Description: Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the Retinitis pigmentosa GTPase regulator (RPGR) gene is one of the more severe forms, and female carriers of RPGR mutations have a variable presentation. A retrospective review of twenty-three female RPGR carriers aged between 8 and 76 years old was carried out using fundoscopy, autofluorescence imaging (AF), blue reflectance (BR) imaging and optical coherence tomography (OCT). Confirmation of the genetic mutation was obtained from male relatives or Sanger genetic sequencing. Fundus examination and AF demonstrate phenotypic variability in RPGR carriers. The genetic mutation appears indeterminate of the degree of change. We found four distinct classifications based on AF images to describe RPGR carriers; normal (N) representing normal or near-normal AF appearance (n = 1, 4%); radial (R) pattern reflex without pigmentary retinopathy (n = 14, 61%); focal (F) pigmentary retinopathy (n = 5, 22%) and; male (M) phenotype (n = 3, 13%). The phenotypes were precisely correlated in both eyes (rs = 1.0, p 〈 0.0001). Skewed X-inactivation can result in severely affected carrier females—in some cases indistinguishable from the male pattern and these patients should be considered for RPGR gene therapy. In the cases of the male (M) phenotype where the X-inactivation was skewed, the pattern was similar in both eyes, suggesting that the mechanism is not truly random but may have an underlying genetic basis.
    Electronic ISSN: 2073-4425
    Topics: Biology
    Published by MDPI
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  • 2
    Publication Date: 2016-06-17
    Description: Circulation on the Antarctic continental shelf influence cross-shelf exchange, Antarctic Bottom Water formation, and ocean heat flux to floating ice shelves. The physical processes driving the shelf circulation and its seasonal and interannual variability remain poorly understood. We use a unique time series of repeat hydrographic observations from the Adélie Land continental shelf and a box inverse model to explore the relationship between surface forcing, shelf circulation, cross-shelf exchange, and dense water formation. A wind-driven northwestward coastal current, set up by onshore Ekman transport, dominates the summer circulation. During winter, strong buoyancy loss creates dense shelf water. This dense water flows off the shelf, with a compensating on-shelf flow that is an order of magnitude larger in winter than in summer. The results demonstrate the importance of winter buoyancy loss in driving the shelf circulation and cross-shelf exchange, as well as dense water mass formation.
    Print ISSN: 0094-8276
    Electronic ISSN: 1944-8007
    Topics: Geosciences , Physics
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 3
    Publication Date: 2019
    Description: Abstract Upwelling in the world's strongest current, the Antarctic Circumpolar Current, is thought to be driven by wind stress, surface buoyancy flux, and mixing generated from the interaction between bottom currents and rough topography. However, the impact of localized injection of heat by hydrothermal vents where the Antarctic Circumpolar Current interacts with mid‐ocean ridges remains poorly understood. Here a circumpolar compilation of helium and physical measurements are used to show that while geothermal heat is transferred to the ocean over a broad area by conduction, heat transfer by convection dominates near hydrothermal vents. Buoyant hydrothermal plumes decrease stratification above the vent source and increase stratification to the south, altering the local vertical diffusivity and diapycnal upwelling within 500 m of the sea floor by an order of magnitude. Both the helium tracer and stratification signals induced by hydrothermal input are advected by the flow and influence properties downstream.
    Print ISSN: 0094-8276
    Electronic ISSN: 1944-8007
    Topics: Geosciences , Physics
    Published by Wiley on behalf of American Geophysical Union (AGU).
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  • 4
    Publication Date: 2015-03-06
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Suh, Jae Myoung -- Jonker, Johan W -- Ahmadian, Maryam -- Goetz, Regina -- Lackey, Denise -- Osborn, Olivia -- Huang, Zhifeng -- Liu, Weilin -- Yoshihara, Eiji -- van Dijk, Theo H -- Havinga, Rick -- Fan, Weiwei -- Yin, Yun-Qiang -- Yu, Ruth T -- Liddle, Christopher -- Atkins, Annette R -- Olefsky, Jerrold M -- Mohammadi, Moosa -- Downes, Michael -- Evans, Ronald M -- P01 HL088093/HL/NHLBI NIH HHS/ -- P42 ES010337/ES/NIEHS NIH HHS/ -- R01 DE013686/DE/NIDCR NIH HHS/ -- R01 HL105278/HL/NHLBI NIH HHS/ -- R24 DK090962/DK/NIDDK NIH HHS/ -- R37 DK057978/DK/NIDDK NIH HHS/ -- England -- Nature. 2015 Apr 16;520(7547):388. doi: 10.1038/nature14304. Epub 2015 Mar 4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25739500" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 5
    Publication Date: 2015-11-19
    Description: Age-associated insulin resistance (IR) and obesity-associated IR are two physiologically distinct forms of adult-onset diabetes. While macrophage-driven inflammation is a core driver of obesity-associated IR, the underlying mechanisms of the obesity-independent yet highly prevalent age-associated IR are largely unexplored. Here we show, using comparative adipo-immune profiling in mice, that fat-resident regulatory T cells, termed fTreg cells, accumulate in adipose tissue as a function of age, but not obesity. Supporting the existence of two distinct mechanisms underlying IR, mice deficient in fTreg cells are protected against age-associated IR, yet remain susceptible to obesity-associated IR and metabolic disease. By contrast, selective depletion of fTreg cells via anti-ST2 antibody treatment increases adipose tissue insulin sensitivity. These findings establish that distinct immune cell populations within adipose tissue underlie ageing- and obesity-associated IR, and implicate fTreg cells as adipo-immune drivers and potential therapeutic targets in the treatment of age-associated IR.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670283/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670283/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bapat, Sagar P -- Myoung Suh, Jae -- Fang, Sungsoon -- Liu, Sihao -- Zhang, Yang -- Cheng, Albert -- Zhou, Carmen -- Liang, Yuqiong -- LeBlanc, Mathias -- Liddle, Christopher -- Atkins, Annette R -- Yu, Ruth T -- Downes, Michael -- Evans, Ronald M -- Zheng, Ye -- AI099295/AI/NIAID NIH HHS/ -- AI107027/AI/NIAID NIH HHS/ -- CA014195/CA/NCI NIH HHS/ -- DK057978/DK/NIDDK NIH HHS/ -- DK090962/DK/NIDDK NIH HHS/ -- ES010337/ES/NIEHS NIH HHS/ -- F30 DK096828/DK/NIDDK NIH HHS/ -- HL088093/HL/NHLBI NIH HHS/ -- HL105278/HL/NHLBI NIH HHS/ -- P01 HL088093/HL/NHLBI NIH HHS/ -- P42 ES010337/ES/NIEHS NIH HHS/ -- R01 AI107027/AI/NIAID NIH HHS/ -- R01 HL105278/HL/NHLBI NIH HHS/ -- R24 DK090962/DK/NIDDK NIH HHS/ -- R37 DK057978/DK/NIDDK NIH HHS/ -- R56 AI099295/AI/NIAID NIH HHS/ -- T32 GM007198/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- England -- Nature. 2015 Dec 3;528(7580):137-41. doi: 10.1038/nature16151. Epub 2015 Nov 18.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Immunobiology and Microbial Pathogenesis Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA. ; Gene Expression Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA. ; Graduate School of Medical Science and Engineering, KAIST 34141, South Korea. ; Department of Biotechnology, College of Life Sciences, Sejong University, Seoul 143-747, South Korea. ; Storr Liver Centre, Westmead Millennium Institute, Sydney Medical School, University of Sydney, Sydney 2145, Australia. ; Howard Hughes Medical Institute, The Salk Institute for Biological Studies, La Jolla, California 92037, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26580014" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue/*cytology/*immunology ; Aging/*immunology ; Animals ; Diabetes Mellitus, Type 2/metabolism ; Glucose/metabolism ; Inflammation/immunology/metabolism ; Insulin Resistance/*immunology ; Macrophages/immunology ; Male ; Metabolic Syndrome X/immunology/metabolism ; Mice ; Obesity/metabolism ; T-Lymphocytes, Regulatory/*cytology/*immunology
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 2015-10-31
    Description: Infections and inflammation can lead to cachexia and wasting of skeletal muscle and fat tissue by as yet poorly understood mechanisms. We observed that gut colonization of mice by a strain of Escherichia coli prevents wasting triggered by infections or physical damage to the intestine. During intestinal infection with the pathogen Salmonella Typhimurium or pneumonic infection with Burkholderia thailandensis, the presence of this E. coli did not alter changes in host metabolism, caloric uptake, or inflammation but instead sustained signaling of the insulin-like growth factor 1/phosphatidylinositol 3-kinase/AKT pathway in skeletal muscle, which is required for prevention of muscle wasting. This effect was dependent on engagement of the NLRC4 inflammasome. Therefore, this commensal promotes tolerance to diverse diseases.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732872/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732872/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Schieber, Alexandria M Palaferri -- Lee, Yujung Michelle -- Chang, Max W -- Leblanc, Mathias -- Collins, Brett -- Downes, Michael -- Evans, Ronald M -- Ayres, Janelle S -- CA014195/CA/NCI NIH HHS/ -- DK0577978/DK/NIDDK NIH HHS/ -- P30 CA014195/CA/NCI NIH HHS/ -- R01 AI114929/AI/NIAID NIH HHS/ -- R01AI114929/AI/NIAID NIH HHS/ -- R37 DK057978/DK/NIDDK NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2015 Oct 30;350(6260):558-63. doi: 10.1126/science.aac6468.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Nomis Center for Immunobiology and Microbial Pathogenesis, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. ; Integrative Genomics and Bioinformatics Core, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. ; Gene Expression Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. ; Gene Expression Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Howard Hughes Medical Institute, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. ; Nomis Center for Immunobiology and Microbial Pathogenesis, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. jayres@salk.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26516283" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Apoptosis Regulatory Proteins/metabolism ; Biosynthetic Pathways ; Burkholderia ; Burkholderia Infections/complications ; Calcium-Binding Proteins/metabolism ; Escherichia coli/*immunology ; Inflammasomes/*immunology ; Insulin-Like Growth Factor I/*metabolism ; Intestines/*microbiology ; Mice ; Mice, Inbred C57BL ; *Microbiota ; Muscle, Skeletal/*metabolism ; Phosphatidylinositol 3-Kinase/metabolism ; Proto-Oncogene Proteins c-akt/metabolism ; Salmonella Infections/complications ; Salmonella typhimurium ; Wasting Syndrome/etiology/*immunology/*microbiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Contributions to mineralogy and petrology 47 (1974), S. 187-196 
    ISSN: 1432-0967
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences
    Notes: Abstract Single whole crystals of calcic augite from M. Etna, Sicily, which display both sector and oscillatory zoning, have been serially sectioned and the form of the sectors mapped out. The principal intersectorial chemical variation is shown to be that of Ti and Al by as much as 39% (cation %) change in each, and the least variation, that of Ca (showing a 0.77 to 3.20% change). For each of three isochronous surfaces the ratio of Ti∶Al is shown to be individually constant no matter what the sector and this is thought to indicate near equilibrium conditions at the crystal/liquid interface. In addition to sector zoning these crystals display two types of concentric banding, having dimensions of about 0.25 mm, 20 μm. The 20 μm banding is shown to be both optically and chemically oscillated. Relative diffusion rates of cationic species in the melt, and growth rates of crystal faces are thought to play an important role in the formation of the oscillations, and the sector zoning.
    Type of Medium: Electronic Resource
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  • 8
    Publication Date: 2015-12-24
    Description: Liver fibrosis is characterized by the persistent deposition of extracellular matrix components by hepatic stellate cell (HSC)-derived myofibroblasts. It is the histological manifestation of progressive, but reversible wound-healing processes. An unabated fibrotic response results in chronic liver disease and cirrhosis, a pathological precursor of hepatocellular carcinoma. We report here that...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 9
    Publication Date: 2015-07-15
    Description: Mitochondria are highly adaptable organelles that can facilitate communication between tissues to meet the energetic demands of the organism. However, the mechanisms by which mitochondria can nonautonomously relay stress signals remain poorly understood. Here we report that mitochondrial mutations in the young, preprogeroid polymerase gamma mutator (POLG) mouse produce a...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 10
    Publication Date: 2015-01-21
    Description: Enhancers are critical genomic elements that define cellular and functional identity through the spatial and temporal regulation of gene expression. Recent studies suggest that key genes regulating cell type-specific functions reside in enhancer-dense genomic regions (i.e., super enhancers, stretch enhancers). Here we report that enhancer RNAs (eRNAs) identified by global...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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