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  • 1
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    SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-12-17
    Description: Lighter variations of pigmentation in humans are associated with diminished number, size, and density of melanosomes, the pigmented organelles of melanocytes. Here we show that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor. The human ortholog is highly similar in sequence and functional in zebrafish. The evolutionarily conserved ancestral allele of a human coding polymorphism predominates in African and East Asian populations. In contrast, the variant allele is nearly fixed in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lamason, Rebecca L -- Mohideen, Manzoor-Ali P K -- Mest, Jason R -- Wong, Andrew C -- Norton, Heather L -- Aros, Michele C -- Jurynec, Michael J -- Mao, Xianyun -- Humphreville, Vanessa R -- Humbert, Jasper E -- Sinha, Soniya -- Moore, Jessica L -- Jagadeeswaran, Pudur -- Zhao, Wei -- Ning, Gang -- Makalowska, Izabela -- McKeigue, Paul M -- O'donnell, David -- Kittles, Rick -- Parra, Esteban J -- Mangini, Nancy J -- Grunwald, David J -- Shriver, Mark D -- Canfield, Victor A -- Cheng, Keith C -- CA73935/CA/NCI NIH HHS/ -- EY11308/EY/NEI NIH HHS/ -- HD37572/HD/NICHD NIH HHS/ -- HD40179/HD/NICHD NIH HHS/ -- HG002154/HG/NHGRI NIH HHS/ -- HL077910/HL/NHLBI NIH HHS/ -- RR017441/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2005 Dec 16;310(5755):1782-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16357253" target="_blank"〉PubMed〈/a〉
    Keywords: African Americans/genetics ; African Continental Ancestry Group/genetics ; Alanine/genetics ; Alleles ; Amino Acid Sequence ; Animals ; Antiporters/chemistry/*genetics/physiology ; Asian Continental Ancestry Group/genetics ; Biological Evolution ; Calcium/metabolism ; European Continental Ancestry Group/genetics ; Gene Frequency ; Genes ; Genetic Variation ; Haplotypes ; Heterozygote ; Humans ; Ion Transport ; Melanins/analysis ; Melanosomes/chemistry/ultrastructure ; Mice ; Molecular Sequence Data ; Multifactorial Inheritance ; Mutation ; Pigment Epithelium of Eye/chemistry/ultrastructure ; Polymorphism, Single Nucleotide ; Selection, Genetic ; Skin Pigmentation/*genetics ; Threonine/genetics ; Zebrafish/embryology/*genetics/metabolism ; Zebrafish Proteins/chemistry/*genetics/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Discrete visual defects in pearl mutant mice (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-03-04
    Description: The mutant mouse pearl, characterized by its hypopigmentation, has a specific functional defect in a sensory system--the retina. The intact pearl mouse has reduced sensitivity in the dark-adapted condition. Normal sensitivity is restored by isolation and superfusion of the retina with bicarbonate-buffered Ringer solution, suggesting that the retinal expression of the pearl mutation depends on a diffusible substance. The pearl phenotype is described as a possible model for human congenital stationary night blindness.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Balkema, G W -- Mangini, N J -- Pinto, L H -- R01EY02536/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1983 Mar 4;219(4588):1085-7.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6600521" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Dark Adaptation ; *Disease Models, Animal ; Mice ; Mice, Mutant Strains/*physiology ; Night Blindness/*genetics/physiopathology ; Retina/physiopathology ; Vision, Ocular/*physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    SPRITE: A TPS Test Bed for Ground and Flight (2012)
    In:  CASI
    Details
    Publication Date: 2019-07-13
    Description: Engineers in the Entry Systems and Technology Division at NASA Ames Research Center developed a fully instrumented, small atmospheric entry probe called SPRITE (Small Probe Reentry Investigation for TPS Engineering). SPRITE, conceived as a flight test bed for thermal protection materials, was tested at full scale in an arc-jet facility so that the aerothermal environments the probe experiences over portions of its flight trajectory and in the arc-jet are similar. This ground-to-flight traceability enhances the ability of mission designers to evaluate margins needed in the design of thermal protection systems (TPS) of larger scale atmospheric entry vehicles. SPRITE is a 14-inch diameter, 45 deg. sphere-cone with a conical aftbody and designed for testing in the NASA Ames Aerodynamic Heating Facility (AHF). The probe is a two-part aluminum shell with PICA (phenolic impregnated carbon ablator) bonded on the forebody and LI-2200 (Shuttle tile material) bonded to the aftbody. Plugs with embedded thermocouples, similar to those installed in the heat shield of the Mars Science Laboratory (MSL), and a number of distributed sensors are integrated into the design. The data from these sensors are fed to an innovative, custom-designed data acquisition system also integrated with the test article. Two identical SPRITE models were built and successfully tested in late 2010-early 2011, and the concept is currently being modified to enable testing of conformable and/or flexible materials.
    Keywords: Spacecraft Design, Testing and Performance
    Type: ARC-E-DAA-TN4730 , AFOSR/NASA/Sandia Ablation Workshop; Feb 28, 2012 - Mar 01, 2012; Lexington, KY; United States
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    NASA TECHNICAL REPORTS
  • 4
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    SPRITE: A TPS Test Bed for Ground and Flight (2012)
    In:  CASI
    Details
    Publication Date: 2019-08-13
    Description: No abstract available
    Keywords: Spacecraft Design, Testing and Performance
    Type: ARC-E-DAA-TN4845 , 5th Ablation Workshop; Feb 28, 2012 - Mar 01, 2012; Lexington, KY; United States
    Format: application/pdf
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  • 5
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    Multi-Mission System Analysis for Planetary Entry (M-SAPE) Version 1 (2014)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: This report describes an integrated system for Multi-mission System Analysis for Planetary Entry (M-SAPE). The system in its current form is capable of performing system analysis and design for an Earth entry vehicle suitable for sample return missions. The system includes geometry, mass sizing, impact analysis, structural analysis, flight mechanics, TPS, and a web portal for user access. The report includes details of M-SAPE modules and provides sample results. Current M-SAPE vehicle design concept is based on Mars sample return (MSR) Earth entry vehicle design, which is driven by minimizing risk associated with sample containment (no parachute and passive aerodynamic stability). By M-SAPE exploiting a common design concept, any sample return mission, particularly MSR, will benefit from significant risk and development cost reductions. The design provides a platform by which technologies and design elements can be evaluated rapidly prior to any costly investment commitment.
    Keywords: Spacecraft Design, Testing and Performance
    Type: NASA/TM2014-218507 , L-20440 , NF1676L-19269
    Format: application/pdf
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    NASA TECHNICAL REPORTS
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