66 research outputs found

    Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs

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    While the genetics of autism spectrum disorders (ASD) has been intensively studied, resulting in the identification of over 100 putative risk genes, the epigenetics of ASD has received less attention, and results have been inconsistent across studies. We aimed to investigate the contribution of DNA methylation (DNAm) to the risk of ASD and identify candidate biomarkers arising from the interaction of epigenetic mechanisms with genotype, gene expression, and cellular proportions. We performed DNAm differential analysis using whole blood samples from 75 discordant sibling pairs of the Italian Autism Network collection and estimated their cellular composition. We studied the correlation between DNAm and gene expression accounting for the potential effects of different genotypes on DNAm. We showed that the proportion of NK cells was significantly reduced in ASD siblings suggesting an imbalance in their immune system. We identified differentially methylated regions (DMRs) involved in neurogenesis and synaptic organization. Among candidate loci for ASD, we detected a DMR mapping to CLEC11A (neighboring SHANK1) where DNAm and gene expression were significantly and negatively correlated, independently from genotype effects. As reported in previous studies, we confirmed the involvement of immune functions in the pathophysiology of ASD. Notwithstanding the complexity of the disorder, suitable biomarkers such as CLEC11A and its neighbor SHANK1 can be discovered using integrative analyses even with peripheral tissues

    Osservazioni sulla lingua di Av. 3 nel contesto plurilingue dell'impero partico

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    Il contributo Ăš dideciato all'analisi della formula di datazione nel documento partico di Avroman III in partico

    Genitive

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    The syntactic functions and/or semantic roles encoded by the A.Gk. genitive do not coincide precisely with the uses of the genitive in other Indo-European languages. Indeed, the A.Gk. genitive is a result of IE genitive-ablative merging and it combines the functions of both cases comprising, besides possessive and partitive meanings (typically expressed by the genitive in IE languages), spatial meanings (typically expressed by the ablative in IE languages). The genitive is the unmarked adnominal case signalling functional dependency relations between a head and its modifier. At the clause level, the functional extension of the genitive covers a broad spectrum of functions and roles including subject and direct object, the second argument of intransitive verbs. This article provides a brief and necessarily selective overview of the main grammatical and semantic uses of the genitive

    Iranian Color Terms in Aramaic Documents from Ancient Bactria

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    Even though the foreign transmission of Old Persian lexemes has been examined quite extensively, some terms regarding colors have been neglected and deserve further investigation. This paper examines certain Iranian color terms in Achaemenid Aramaic documents from Ancient Bactria included in Naveh and Shaked’s 2012 publication. Color terms are generally attested in texts marked by the letter C that regard the storage and distribution of goods and commodities as well as their quantity. Apart from the Aramaic counterpart of well attested Old Persian words such as kapaáč·taka- (k-p-u-t-k-) ‘grey/blu’ and kāsakana- (k-a-s-k-i-n) ‘green/blue, lapis-lazuli colored’, these documents contain the ‘first attestation’ of two Iranian color terms, ‘black’ and <’rgwn> ‘purple’, a fact that merits further investigation

    Appunti sulla rappresentazione linguistica dell’identità dell’aristocrazia dominante nella Frigia Ellespontica achemenide

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    This paper focuses on the affirmation of an elite linguistic identity in Achaemenid Hellespontine Phrygia. By examining public and private inscriptions in this region, it considers how Achaemenid authority, and Achaemenid administration, chose to assert this identity. The epigraphic evidence from Hellespontine Phrygia suggests a flexible language policy which favoured the peaceful co-existence of various language groups. At the same time, in this multilingual setting, the dominant ethno-class, as well as non-Persian members of the Achaemenid elite, used Aramaic, a language which was attractive for its prestige, its efficiency, and its accessibility. This was not only an administrative lingua franca, but also a symbolic resource, highlighting its users’ socio-cultural identity both in the official sphere (seals) and the private one (funerary inscriptions)

    Textiles in aramaic documents from ancient Bactria

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    Some textile terms are attested in Aramaic documents from Achaemenid Bactria, in particular in three texts belonging to the textual genre classified as ‘list supplies and labels’. This paper focuses on the Aramaic word translated as ‘brocade’ by Naveh and Shaked (2012) and by them firstly interpreted as relating to New Persian sundus ‘brocade, silk wrought with gold or silver’. A consideration of Middle Iranian and Avestan forms (Manichean Middle Persian and Maniachean Sogdian , Phlavi , Avestan sāΎaiiaáč‡tÄ«-) with respect to the Aramaic allows to make some etymological considerations. In particular, it is possible to exclude a connection between the Aramaic and the Iranian name for brocade with the Ancient Greek σÎčΜΎ᜜Μ ‘fine woven cloth’, which is linked to the Akkadian form saddinu ‘tunic (of linen)’. Given a non-Semitic origin for the Aramaic and related Middle-Iranian words for brocade, a new etymological hypothesis is proposed: indeed it is possible to reconstruct an Old Iranian prototype *sandu-sa- with an u-stem formation from the Old Iranian root *sand- ‘to appear, seem (good)’, enlarged by the Old Iranian suffix -sa-, Old Indian -ƛa- from Indo-European *-k̂o-, which occurs mostly in the formation of adjectives that express physical characteristics. This reconstruction implies that there might have been an original association between such textile/cloth and the idea of beauty and a pleasing shape

    Riflessi indoeuropei nella terminologia iranica della vanga

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    This paper focuses on a new etymology for the pahlavi name of the ‘spade’ bēl. This form is comparable with part. and mp. manich. byr and np. bēl and it is widely attested in various dialect areas of middle and modern Iran. The traditional hypotheses have reconstructed a nominal formation with various possible suffixation from the root ie. *bhedh- ‘to dig’. But the solutions proposed so far do not explain the complex of forms attested. In this new etymological hypotesis all Iranian forms go back to *bardya- 'object that splits, spade, hoe' deriving from ie. *bherdh-yo-, from the root *bheredh - 'to cut'

    Old Persian ditransitive constructions

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    Old Persian distinguishes two types of ditransitive constructions: the genitive ditransitive construction (see example 1) and the double accusative ditransitive construction The differences between these constructions have been observed in previous studies (Meillet and Benveniste 1931; Kent 1953; Schmitt 2004), but they have not been explored in depth. This study considers the syntactic, semantic, pragmatic, morphological, and information structural restrictions on genitive ~ accusative alternation as the indirect object in order to understand the factors that condition the choice between the ditransitive constructions available. Due caution, however, should be exercised as far as OP material is concerned, since our understanding of OP linguistic features is dependent on a limited corpus. A constructional analysis of OP data shows a alignment split (“different constructions under different conditions”, cf. Haspelmath 2014): the two ditransitive constructions of OP can be regarded as two independent argument structure constructions characterized by distinct pragmatic profiles associated with somewhat different meanings
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