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211.
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 总被引:7,自引:0,他引:7
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213.
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 总被引:23,自引:0,他引:23
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication. 相似文献
214.
Kay Van Damme Petr Benda Dirk Van Damme Peter De Geest Irka Hajdas 《Journal of Natural History》2018,52(31-32):2001-2024
Data on the prehistoric biota of the Socotra Archipelago (Yemen) are scarce. We report on the first extinct vertebrate ever recorded from this western Indian Ocean island group. An exceptionally preserved adult specimen of Egyptian fruit bat Rousettus aegyptiacus was found in a calcite flowstone in Hoq Cave on the NE coast of Socotra Island. Accelerator mass spectrometry (AMS) radiocarbon dating on bone fragments estimates the fossil at ca. 7600–7400 cal a BP (radiocarbon age 6669 ± 70 14C a BP) corresponding to an early Holocene wet period in southern Arabia and the Horn of Africa. Morphometric analysis of the skull compared to Recent specimens from the neighbouring mainlands finds the fossil morphologically most similar to Egyptian (Nile Valley and Libyan Desert), not to East African or Middle Eastern populations. The species is currently absent from the Horn of Africa (Somalia and Eastern Ethiopia). Although potentially a stray individual, we also discuss the palaeoenvironmental implications under the hypothetical scenario that the fruit bat is a remnant of an extinct resident population. If so, the extinction of an important pollinator and seed disperser may have impacted the Socotran terrestrial ecosystems. 相似文献
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Marc Van den Bossche 《Foundations of Science》2017,22(2):265-267
In my reply to the commentaries by Babette Babich and Robert C. Scharff I make a distinction between critical remarks and additions that are relevant for my view on philosophy for substantive reasons and others that relate to a style or way of philosophizing. My reply to Scharff concerns the latter. I continue to defend an updated version of Heidegger’s thinking about technology, which I bring together with elements from the work of Don Ihde and Andrew Feenberg. I read all this from the perspective of a neo-pragmatist way of philosophizing, explicitly inspired by Richard Rorty. 相似文献
217.
Hatching chronology of Blue Grouse ( Dendragapus obscurus ) in northeastern Oregon was determined from 431 immatures examined from 1981 to 1985. Young hatched from 1 May through 8 July; median hatching dates for the five years ranged from 27 May to 5 June. Peak hatching in Oregon occurred from one to four weeks earlier than in most portions of the range of Blue Grouse but were similar to north central Washington and Idaho. Variations in hatching dates possibly were related to rainfall. 相似文献
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Jacquemont S Reymond A Zufferey F Harewood L Walters RG Kutalik Z Martinet D Shen Y Valsesia A Beckmann ND Thorleifsson G Belfiore M Bouquillon S Campion D de Leeuw N de Vries BB Esko T Fernandez BA Fernández-Aranda F Fernández-Real JM Gratacòs M Guilmatre A Hoyer J Jarvelin MR Kooy RF Kurg A Le Caignec C Männik K Platt OS Sanlaville D Van Haelst MM Villatoro Gomez S Walha F Wu BL Yu Y Aboura A Addor MC Alembik Y Antonarakis SE Arveiler B Barth M Bednarek N Béna F Bergmann S Beri M Bernardini L 《Nature》2011,478(7367):97-102