Articoli di riviste: "Digenism"

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Sáenz, Amets, e Adolfo López de Munain. "Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n. 2 (5 novembre 2016): e7-e7. http://dx.doi.org/10.1093/brain/aww281.

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Vissing, John, e Morten Duno. "Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?" Brain 140, n. 2 (15 novembre 2016): e8-e8. http://dx.doi.org/10.1093/brain/aww283.

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Behin, A., P. Laforêt, O. Dubourg, T. Maisonobe, P. Richard, M. Jeanpierre e B. Eymard. "G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy". Neuromuscular Disorders 17, n. 9-10 (ottobre 2007): 809. http://dx.doi.org/10.1016/j.nmd.2007.06.162.

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Caetano, Carollne, Manon Ricquebourg, Philippe Orcel, Stéphanie Fabre, Thomas Funck Brentano, Martine Cohen Solal e Corinne Collet. "Early onset idiopathic osteoporosis: digenism of wnt signaling pathway". Bone Reports 13 (ottobre 2020): 100354. http://dx.doi.org/10.1016/j.bonr.2020.100354.

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Beigi, Fahimeh, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso e Nasrin Ghasemi. "Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease". Experimental Eye Research 207 (giugno 2021): 108533. http://dx.doi.org/10.1016/j.exer.2021.108533.

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Moraine, Claude, Frédérique Bonnet-Brilhault, Frédéric Laumonnier e Marie Gomot. "Could autism with mental retardation result from digenism and frequent de novo mutations?" World Journal of Biological Psychiatry 10, n. 4-3 (gennaio 2009): 1030–36. http://dx.doi.org/10.1080/15622970802627455.

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Bertrand, Anne T., Khadija Chikhaoui, Rabah Ben Yaou e Gisèle Bonne. "Clinical and genetic heterogeneity in laminopathies". Biochemical Society Transactions 39, n. 6 (21 novembre 2011): 1687–92. http://dx.doi.org/10.1042/bst20110670.

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Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heterogeneity, with 408 different mutations being reported to date. Whereas a few hotspot mutations emerge for some types of laminopathies, relationships between genotypes and phenotypes remain poor for laminopathies affecting the striated muscles. In addition, there is important intrafamilial variability, explained only in a few cases by digenism, thus suggesting an additional contribution from modifier genes. In this regard, a chromosomal region linked to the variability in the age at onset of myopathic symptoms in striated muscle laminopathies has recently been identified. This locus is currently under investigation to identify modifier variants responsible for this variability.

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Chapon, F., C. Gartioux, C. Ledeuil, L. Demay, L. Brinas, D. Herlicoviez, S. Allouche et al. "G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?" Neuromuscular Disorders 18, n. 9-10 (ottobre 2008): 731. http://dx.doi.org/10.1016/j.nmd.2008.06.029.

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Lecoq, Anne-Lise, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon-Mantel, Philippe Chanson e Peter Kamenický. "Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas". European Journal of Endocrinology 174, n. 4 (2 gennaio 2016): 523–30. http://dx.doi.org/10.1530/eje-15-1044.

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ContextRecently, germline and somaticGPR101p.(E308D) mutation was found in patients with isolated acromegaly. It is not known whetherGPR101point mutations are associated with other histological types of pituitary adenoma.ObjectiveWe sought germlineGPR101mutations in patients with sporadic pituitary adenomas, and compared the phenotypes ofGPR101mutation carriers andAIPmutation carriers.DesignAn observational cohort study performed between 2007 and 2014 in a single referral center.ParticipantsThis prospective study involved 766 unselected patients (413 women) with sporadic pituitary adenomas of all histotypes.MethodsEntireGPR101andAIPcoding sequence were screened for germline mutations.ResultsTwelve patients (1.6%) were found to carry theGPR101p.(E308D) mutation or rareGPR101variants. The minor allele frequency of theGPR101mutation and variants was higher in patients with pituitary adenomas than in unaffected individuals included in the Exome Aggregation Consortium database. Three of the six patients with theGPR101p.(E308D) mutation had adult-onset acromegaly, two had adrenocorticotropin-secreting adenomas, and one had a nonfunctioning macroadenoma. Six patients carried rareGPR101variants. GermlineAIPmutations or rareAIPvariants were identified in 32 patients (4.2%).AIPmutation carriers were younger at diagnosis thanGPR101mutation carriers and non carriers. None of the patients harbored mutations in both theGPR101andAIPgenes.ConclusionGermlineGPR101mutations are very rare in patients with sporadic pituitary adenomas of various histotypes. No digenism withAIPwas identified. Further studies are required to establish whether and how genetic variation inGPR101gene contributes to pituitary tumorigenesis.

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Hendrickx, B. "‘Die dood van Digenis’ - mistifikasie van ’n Bisantynse held". Literator 14, n. 1 (3 maggio 1993): 99–106. http://dx.doi.org/10.4102/lit.v14i1.693.

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The Byzantine akritic poem, "The Death of Digenis", which manifests all the characteristics of the Byzantine Neo-Hellenic tragoudi, is a good exemplum of an epic song, where mystification (in its anthropological sense) is used to idealize the hero. Historically the akritic songs (9th - 13th cent. A.D.) refer to the ongoing war on Byzantium’s frontiers between the Christian defenders of the empire and the Moslem invaders. The poem's structure, its historical-epic elements and especially its symbolism are examined in this article. It thus becomes clear that the unknown poet juxtaposes present, past and future in such a way that Digenis’s heroic (but human) exploits of the past are integrated in a supernatural climax, where the hero in his struggle loses to Charon (Death - Archangel Michael). Consequently Digenis, whose name means ‘bom twice', complies on the one hand with the tragic destiny of an epic death, and on the other hand passes through a kind of initiation ritual into the Christian host of the heroes of Heaven.

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Митевски [Mitevski], Витомир [Vitomir]. "The Akritic Hero in Byzantine and Macedonian Epic Poetry". Colloquia Humanistica, n. 7 (18 dicembre 2018): 10–31. http://dx.doi.org/10.11649/ch.2018.009.

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The Akritic Hero in Byzantine and Macedonian Epic PoetryComparative analysis of the most prominent heroic characters of Byzantine (Armouris and Digenes) and Macedonian (King Marko) epic poetry uncovers numerous contact points that reveal the close relation between these two cultures over a longer period of time. By using the term “akritic hero” or border warrior in Byzantine and the term kraishnik in Macedonian epic poetry, the paper analyses the relation between these two representations of the same type of epic hero. Complex concordance is explored on several levels which illustrate several characteristic features of the Byzantine akritic heroes Digenes and King Marko in traditional Macedonian epic poetry. Both Digenes and Marko are lone horsemen roaming in restricted territory (Cappadocia andMacedonia), they fight as individuals with distinguished opponents and even with armies, and win the fights, slay the dragon in identical manner, there are occurrences of child-heroes in the songs and the institution of avunculate is particularly emphasised in the act of initiation etc. Unlike monolithic character of Homeric heroes, in Byzantine and Macedonian epic poetry both Digenes and Marko are significantly more complex and occasionally inconsistent characters which is due to their centuries-long shaping in territories where different cultural influences are interwoven. Bohater z pogranicza w bizantyjskiej i macedońskiej poezji epickiejAnaliza komparatystyczna najbardziej wyrazistych postaci w bizantyjskiej (Armuris i Digenis) i macedońskiej (Królewicz Marko) epice ujawnia szereg punktów wspólnych, co świadczy o bliskich kontaktach pomiędzy tymi dwiema kulturami w długim okresie czasu. Na przykładzie pojęcia akryty, to znaczy żołnierza z pogranicza [Cesarstwa Wschodniorzymskiego], który w macedońskiej epice jest nazywany pogranicznikiem i jest nośnikiem takiego samego znaczenia (jak termin akryta), w artykule analizowany jest wzajemny stosunek tych dwóch odmian tego samego typu bohatera epickiego. Kompleksowa analiza uwidacznia podobieństwo na wielu poziomach, przy czym akryta - pogranicznik Królewicz Marko w macedońskiej tradycyjnej poezji epickiej odznacza się szeregiem charakterystycznych cech właściwych akrycie. Tak oto, i Digenis, i Karólewicz Marko są samotnymi wojownikami, którzy poruszają się po ograniczonej przestrzeni (Kapadocja i Macedonia), stają samotnie do dwuboju z wybitnymi przeciwnikami, a nawet z całymi armiami i wychodzą z nich zwycięsko, w ten sam sposób pokonują żmija, w pieśniach o nich występują dzieci-junacy, przy czym w obydwu kontekstach (bizantyjskim i macedońskim) jest kładziony akcent na instytucję awunkulatu (avunculus), co ma szczególne znaczenie w kontekście aktu inicjacji, itd. W przeciwieństwie do monolitycznego charakteru bohaterów homeryckich, w bizantyjskim i macedońskim eposie, Digenis i Królewicz Marko są postaciami o wiele bardziej kompleksowymi i wewnętrznie sprzecznymi, co wynika z ich wielowiekowego poetyckiego kształtowania się na terenach, na których krzyżują się najróżnorodniejsze wpływy. Акритскиот херој во византиската и македонскатаепска поезијаСпоредбената анализа на најистакнатите херојски ликови на византиската (Армурис и Дигенис) и македонската (Марко Крале) епика открива низа допирни точки што сведочи за блискиот контакт меѓу овие две култури во тек на подолг временски период. На примерот на поимот за т. н. акритски херој т. е. воин одграничните предели кој во македонската епика го носи називот краишник со идентично значење, во текстот се истражува меѓусебниот однос на овие две пројави на еден ист тип епски херој. Комплексното соодветство се развива на повеќе нивоа при што краишникот Марко Крале во македонската традиционална епска поезија се истакнуива со низа типични „акритски“ обележја. Така, и Дигенис и Марко се осамени коњаници кои се движат на ограничен простор (Кападокија односно Македонија), стапуваат како единка во двобои со истакнати противници, па дури и со цели војски и од нив излегуваат како победници, на идентичен начин го погубуваат змејот, во песните за нив се јавуваат деца-јунаци при што и на двете страни акцент се става на институтцијата на авункулат што особено важи во чинот на иницијација итн. Наспроти монолитниот карактер на хомерските херои, во византискиот и македонскиот еп Дигенис и Марко се многу покомплексни и понекогаш противречни фигури што е резултат на нивното повеќевековно поетско обликување на простори каде што се преплетуваат најразлични влијанија.

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Romanchuk, Robert. "Borrowings from the Old Slavic Digenis Akritis in the Muscovite Buovo d’Antona (Bova Korolevich)". Canadian-American Slavic Studies 58, n. 1-2 (7 dicembre 2023): 190–203. http://dx.doi.org/10.30965/22102396-05801011.

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Abstract The Byzantine Greek “romantic epic” Digenis Akritis and the Venetian romance Buovo d’Antona, translated into different Slavic languages under different circumstances and traversing Slavic space by different routes, reached Muscovy in the sixteenth century – each undergoing significant editing there and ultimately becoming textually entangled. It has not been noticed before that the editor of a Muscovite redaction of Buovo borrowed a number of passages from an early redaction of the “formulaically styled” Slavic Digenis. The encounter of Buovo with Digenis may help explain the former work’s subsequent popularity in Russia, as it transformed the courtly hero Buovo d’Antona into the Russian folk hero Bova Korolevich. It also helps sketch a context for the direct ancestor of the most important extant manuscript of the Slavic Digenis.

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Xue, Jiwei, Dawei Ren, Sen Wang, Xianzhong Bu, Zhenguo Song, Chen Zhao e Tong Chen. "Effect of Ferric Ions on Sulfidization Flotation of Oxidize Digenite Fine Particles and Their Significance". Minerals 11, n. 3 (16 marzo 2021): 305. http://dx.doi.org/10.3390/min11030305.

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Digenite fine particles are easily oxidized and ferric ions (Fe3+) commonly exist in the flotation pulp of digenite. This study investigated the effect of Fe3+ on the sulfidization flotation of oxidized digenite fine particles using sodium butyl xanthate (SBX) as a collector. The results of microflotation experiments show that the flotation rate and recovery of oxidized digenite fine particles can be improved by adding Na2S and SBX, whereas the existence of large amounts of Fe3+ is not beneficial for the sulfidization flotation of digenite. The results of Fe3+ adsorption, zeta potential, and contact angle measurements indicate that Fe3+ can be adsorbed on the digenite surface mainly in the form of Fe(OH)3, which hinders the adsorption of SBX and significantly reduces the surface hydrophobicity of digenite. X-ray photoelectron spectroscopy analysis further suggests that the poor surface hydrophobicity of digenite in the presence of Fe3+ is due to the production of large amounts of hydrophilic iron and copper oxides/hydroxides on the surface. Furthermore, optical microscopy analysis shows that these hydrophilic species effectively disperse digenite fine particles in the pulp, which eventually leads to the poor floatability of digenite. Therefore, it is necessary to reduce the amount of Fe3+ present in the pulp and adsorbed on digenite surface before sulfidization to realize effective separation of oxidized digenite fine particles and iron sulfide minerals.

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ARI, Sentaç. "THE INVESTIGATION OF “DİĞENİS AND AZRAIL” AND “DUHA KOCA OĞLU DELİ DUMRUL” IN CONTEXT OF INTERCULTURAL INTERACTION". RIMAK International Journal of Humanities and Social Sciences 04, n. 01 (1 gennaio 2022): 174–83. http://dx.doi.org/10.47832/2717-8293.15.12.

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Epics are the oldest products in the world. They are passed down from generation to generation. They allow us to detect cultural exchanges. In the study, the works of "Digenis and Azrael" and "Duha Kocaoğlu Deli Dumrul" were compared. The work focused on common cultural elements. Anonymous epic called "Digenis and Azrael" was translated from Dimotiki Greek into Turkish. Both works were analyzed in a holistic way with content analysis method. There are religious elements in both works. Belief in the existence and oneness of God is emphasized. In both works, the protagonists are famous for their beatings. They both fought with the Azrael who came to take their lives. In the end, they accepted God's will and accepted death. In both works, there is a grandfather who is defined as a wise person and he comments on the hero. The differences in the works are as follows: Azrâil wants to take Digenis' life because the time has come. He wants to take Deli Dumrul's life because he is suspicious of God's unity and power. Azrâil, who is a strong character in Deli Dumrul, bows to the power of Digenis in Digenis. Deli Dumrul's mother does not want to give her life for her son. Azrael's mother advises Azrael not to take anyone's life. In both works, the inability to accept death in the universal human thought and the desire to change the result are handled.

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Oreopoulos, D. G. "George Digenis, M.D. 1946 – 1996". Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 17, n. 1 (gennaio 1997): 5. http://dx.doi.org/10.1177/089686089701700101.

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Αγγελάκη, Ρ. Τ. "The diachronic translatability of Digenis Akritas in fictional informational books for children". Kathedra, n. 18(1) (15 maggio 2024): 81–100. http://dx.doi.org/10.52607/26587157_2024_18_81.

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Τα κατορθώματα των Ακριτών αποτέλεσαν έμπνευση για τα ακριτικά τραγούδια που συντέθηκαν προκειμένου να μνημονεύσουν το ένδοξο βυζαντινό παρελθόν. Έπειτα, ακολούθησε η σύνθεση του έπους του Διγενή Ακρίτα, σηματοδοτώντας την αρχή της νεοελληνικής λογοτεχνίας. Ο χαρακτήρας του Βασίλειου Διγενή Ακρίτα αναπαρίσταται σε πλήθος παιδικών βιβλίων, από συγγραφείς που επιχειρούν να διασκευάσουν το έπος και να εμπλουτίσουν τις ιστορικές γνώσεις του κοινού τους για τη θρυλική αυτή μορφή. Στην παρούσα εισήγηση θα διαπιστωθεί πώς καταδεικνύεται η δύναμη, οι αρετές και οι πολεμικές ικανότητες, η φιλοπατρία και η ευαισθησία του περιβόητου ήρωα με βάση το ομώνυμο έμμετρο αφήγημα σε παιδικά βιβλία γνώσεων. Συγκεκριμένα, θα εξεταστούν οι μυθιστορηματικές βιογραφίες του Δημήτρη Βαρβαρήγου, Διγενής Ακρίτας. Ένας ήρωας που έγινε θρύλος (2007), και της Εύης Τσιτιρίδου-Χριστοφορίδου, Βυζαντινή Κωνσταντινούπολη (2011), και, με βάση τη Συγκριτική Γραμματολογία, θα αναζητηθούν τα μοτίβα που επιβεβαιώνουν τις διακειμενικές σχέσεις των βιβλίων με το παλαιότερο λογοτεχνικό γραπτό μνημείο της δημώδους ελληνικής μεσαιωνικής γλώσσας και, συγκεκριμένα, την παραλλαγή του El Escorial. The heroic actions of Akrites inspired medieval poets who composed the acritic songs to commemorate the glorious byzantine past. Then the composition of the epic poem of Digenis Akritas followed, which marked the beginning of modern Greek literature. The character of Vasilios Digenis Akritas is portrayed in numerous children’s books by authors who attempted to adapt the epic poem and enrich the readers’ historical knowledge concerning this legendary figure. The paper examines the way Digenis’ legendary strength, virtues, martial skills, philanthropy and sensitivity are demonstrated in childrens’ books. The sample consists of the fictional biographies of Dimitris Varvarigos, titled Digenis Akritas. The Hero Who Became a Legend (2007), and of Evi Tsitiridou-Christophoridou, titled Byzantine Constantinople (2011). Based on Comparative Children’s Literature, the study explores the motifs that confirm the intertextual dialogue between the sample and epic poem of Digenis, and more specifically the version of El Escorial.

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Moennig, Ulrich. "Digenis Akritis.The Grottaferrata and Escorial versions". Byzantine and Modern Greek Studies 24, n. 1 (gennaio 2000): 288–89. http://dx.doi.org/10.1179/byz.2000.24.1.288.

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Neuhofer, Christiane M., e Holger Prokisch. "Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology". International Journal of Molecular Sciences 25, n. 9 (23 aprile 2024): 4602. http://dx.doi.org/10.3390/ijms25094602.

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Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in explaining phenomena like phenotypic variability and reduced penetrance. Widening the perspective beyond Mendelian inheritance has the potential to enable a better understanding of disease complexity in rare disorders. Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing genes. Known digenic disease causes show a range of pathomechanisms underlying digenic interplay, including direct and indirect gene product interactions as well as epigenetic modifications. This review aims to systematically explore the background of digenic inheritance in rare disorders, the approaches and challenges when investigating digenic inheritance, and the current evidence for digenic inheritance in mitochondrial disorders.

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Aguilar-Martinez, Patricia, Severine Cunat, Fabienne Becker, Francois Blanc, Marlene Nourrit, Philippe Pouderoux e Jean-Francois Schved. "Iron Overload in C282Y Heterozygotes: Identification of New Rare HFE Gene Mutants and a Step Strategy for Diagnosis." Blood 112, n. 11 (16 novembre 2008): 1859. http://dx.doi.org/10.1182/blood.v112.11.1859.1859.

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Abstract Introduction: Homozygozity for the p.Cys282Tyr (C282Y) mutation of the HFE gene is the main genotype associated with the common form of adult hereditary hemochromatosis. C282Y carriers do not usually develop iron overload, unless they have additional risk factors such as liver diseases, a dysmetabolic syndrome or an associated genetic defect. The commonest is the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele. However, a few rare HFE mutations can be found on the 6th chromosome in trans, some of which are of clinical interest to fully understand the disorder. Patients and Methods: We recently investigated four C282Y carrier patients with unusually high iron parameters, including increased levels of serum ferritin (SF), high transferrin saturation (TS) and high iron liver content measured by MRI. They were males, aged 37, 40, 42, 47 at diagnosis. Two brothers (aged 40 and 42) were referred separately. The HFE genotype, including the determination of the C282Y, H63D and S65C mutations was performed using PCR-RFLP. HFE sequencing was undertaken using the previously described SCA method (1). Sequencing of other genes (namely, HAMP, HJV/HFE2, SLC40A1, TFR2) was possibly performed in a last step using the same method. Results: We identified three rare HFE mutant alleles, two of which are undescribed, in the four studied patients. One patient bore a 13 nucleotide-deletion in exon 6 (c.[1022_1034del13], p.His341_Ala345>LeufsX119), which is predicted to lead to an abnormal, elongated protein. The two brothers had a substitution of the last nucleotide of exon 2 (c.[340G>A], p.Glu114Lys) that may modify the splicing of the 2d intron. The third patient, who bore an insertion of a A in exon 4 (c.[794dupA],p.[trp267LeufsX80]), has already been reported (1). Discussion: A vast majority of C282Y carriers will not develop iron overload and can be reassured. However, a careful step by step strategy at the clinical and genetic levels may allow to correctly identify those patients deserving further investigation. First, clinical examination and the assessment of iron parameters (SF and TS) allow identifying C282Y heterozygotes with an abnormal iron status. Once extrinsic factors such as heavy alcohol intake, virus or a dysmetabolic syndrome have been excluded, MRI is very useful to authenticate a high liver iron content. Second, HFE genotype must first exclude the presence of the H63D mutation. Compound heterozygozity for C282Y and H63D, a very widespread condition in our area, is usually associated with mild iron overload. Third, HFE sequencing can be undertaken and may identify new HFE variants as described here. The two novel mutations, a frameshift modifying the composition and the length of the C terminal end of the HFE protein and a substitution located at the last base of an exon, are likely to lead to an impaired function of HFE in association with the C282Y mutant. However, it is noteworthy that three of the four patients were diagnosed relatively late, after the 4th decade, as it is the case for C282Y homozygotes. Three further unrelated patients are currently under investigation in our laboratory for a similar clinical presentation. Finally, it can be noted that in those patients who will not have a HFE gene mutant identified, analysis of other genes implicated in iron overload must be performed to search for digenism or multigenism. None of our investigated patients had an additional gene abnormality.

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Gogola, Matej. "[Digenis Akritis. Byzantský epos o dvojrodém hraničáři]". Graeco-Latina Brunensia, n. 1 (2019): 211–12. http://dx.doi.org/10.5817/glb2019-1-15.

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Kerner, Gaspard, Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T. Timberlake, Jacinta Bustamante, Richard P. Lifton, Jean-Laurent Casanova e Laurent Abel. "A genome-wide case-only test for the detection of digenic inheritance in human exomes". Proceedings of the National Academy of Sciences 117, n. 32 (27 luglio 2020): 19367–75. http://dx.doi.org/10.1073/pnas.1920650117.

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Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome. Some monogenic disorders may therefore actually be digenic. However, only a few digenic disorders have been reported, all discovered by candidate gene approaches applied to at least one locus. We propose here a two-locus genome-wide test for detecting digenic inheritance in WES data. This approach uses the gene as the unit of analysis and tests all pairs of genes to detect pairwise gene × gene interactions underlying disease. It is a case-only method, which has several advantages over classic case-control tests, in particular by avoiding recruitment of controls. Our simulation studies based on real WES data identified two major sources of type I error inflation in this case-only test: linkage disequilibrium and population stratification. Both were corrected by specific procedures. Moreover, our case-only approach is more powerful than the corresponding case-control test for detecting digenic interactions in various population stratification scenarios. Finally, we confirmed the potential of our unbiased, genome-wide approach by successfully identifying a previously reported digenic lesion in patients with craniosynostosis. Our case-only test is a powerful and timely tool for detecting digenic inheritance in WES data from patients.

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MUHAMMAD, Tarek M. "La conversion del islam al cristianismo vista por el autor de Digenes Akrites". Collectanea Christiana Orientalia 7 (1 ottobre 2010): 121–49. http://dx.doi.org/10.21071/cco.v7i.14683.

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El autor de Digenes Akrites señala al cristianismo del momento como la religión superior y presenta tres modelos de conversiones del islam al cristianismo. Este polémico texto, que se encuentra en Digenes Akrites, es muy interesante, pues se sitúa entre el pensamiento tradicional bizantino de corte polemista y el sentido literario. Este artículo se ocupa de esos casos de conversiones del islam al cristianismo, tal como fueron vistos por el autor de Digenes Akrites, con el propósito de indagar sobre lo que el autor de la obra conocía del islam.

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Olson, Rory J., Katharina Hopp, Harrison Wells, Jessica M. Smith, Jessica Furtado, Megan M. Constans, Diana L. Escobar, Aron M. Geurts, Vicente E. Torres e Peter C. Harris. "Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models". Journal of the American Society of Nephrology 30, n. 11 (19 agosto 2019): 2113–27. http://dx.doi.org/10.1681/asn.2019020150.

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BackgroundAutosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes PKD1 or PKD2 (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by PKHD1 (encoding fibrocystin/polyductin [FPC]). Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. ARPKD’s mild phenotype in murine models versus in humans has hampered investigating its pathogenesis.MethodsTo study the interaction between Pkhd1 and Pkd1, including dosage effects on the phenotype, we generated digenic mouse and rat models and characterized and compared digenic, monogenic, and wild-type phenotypes.ResultsThe genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. Genetic interaction between Pkhd1 and Pkd1 depended on dosage in the digenic murine models, with no significant enhancement of the monogenic phenotype until a threshold of reduced expression at the second locus was breached. Pkhd1 loss did not alter expression, maturation, or localization of the ADPKD polycystin proteins, with no interaction detected between the ARPKD FPC protein and polycystins. RNA-seq analysis in the digenic and monogenic mouse models highlighted the ciliary compartment as a common dysregulated target, with enhanced ciliary expression and length changes in the digenic models.ConclusionsThese data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.

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Beaton, Roderick. "Digenis Akritis: The Grottaferrata and Escorial Versions. Elizabeth Jeffreys". Speculum 77, n. 1 (gennaio 2002): 199–200. http://dx.doi.org/10.2307/2903836.

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Ali, Rashida, Vindhya Solanki, P. Athira e Girish Chandra Bhatt. "Digenic Alport Syndrome in Children: A Systematic Review of Case Reports and Case Series". Indian Pediatrics Case Reports 4, n. 2 (aprile 2024): 121–25. http://dx.doi.org/10.4103/ipcares.ipcares_74_24.

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Background: Alport syndrome comprises inherited heterogeneous disorders involving kidneys with varying combinations of ocular pathologies and hearing loss. Digenic Alport syndrome is a pathologic variant of Alport syndrome in which there is a mutation in two out of three mutations in type IV collagen (COL4A) genes, either COL4A5 with COL4A3/COL4A4, or pathogenic variants in COL4A3 with COL4A4. There are scarce data regarding the genotype–phenotype associations in children with digenic Alport syndrome. Objective: The present systematic review focuses on clinical presentations, genetic abnormalities, pharmacological management, and associated extrarenal manifestations in digenic Alport syndrome. Methods: A comprehensive search was done in major databases, such as PubMed and Google Scholar, using defined search terms encompassing case reports or case series on digenic Alport syndrome. The identified reports underwent screening by two different authors for inclusion and exclusion criteria. Results: Thirty-three cases were included, showing that the mean age at diagnosis was 6 years. Microhematuria was the most common kidney manifestation (85%), followed by nephrotic/nephritic range proteinuria (72%), while extrarenal features were a rare finding. The main diagnostic modality was genetic testing with specific findings on electron microscopy, such as thinning of the basement membrane (76.4%). Focal segmental glomerulosclerosis was the most common finding on light microscopy (50%). A missense mutation was the most common genetic mutation present in 65.7% of cases. The patients were primarily managed with medical management initially with no data regarding follow-up. Conclusion: The digenic phenotype of Alport syndrome presents with a mean age earlier than the other variants, with hematuria and proteinuria being the most common presentations, with rare extrarenal involvements. Furthermore, the most common genetic abnormality associated with the digenic variant of Alport syndrome is a missense mutation.

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Lu, Shuanglong, Zhixiao Niu e Xiaohong Qiao. "Exploring the Genotype–Phenotype Correlations in a Child with Inherited Seizure and Thrombocytopenia by Digenic Network Analysis". Genes 15, n. 8 (31 luglio 2024): 1004. http://dx.doi.org/10.3390/genes15081004.

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Understanding the correlation between genotype and phenotype remains challenging for modern genetics. Digenic network analysis may provide useful models for understanding complex phenotypes that traditional Mendelian monogenic models cannot explain. Clinical data, whole exome sequencing data, in silico, and machine learning analysis were combined to construct a digenic network that may help unveil the complex genotype–phenotype correlations in a child presenting with inherited seizures and thrombocytopenia. The proband inherited a maternal heterozygous missense variant in SCN1A (NM_001165963.4:c.2722G>A) and a paternal heterozygous missense variant in MYH9 (NM_002473.6:c.3323A>C). In silico analysis showed that these two variants may be pathogenic for inherited seizures and thrombocytopenia in the proband. Moreover, focusing on 230 epilepsy-associated genes and 35 thrombopoiesis genes, variant call format data of the proband were analyzed using machine learning tools (VarCoPP 2.0) and Digenic Effect predictor. A digenic network was constructed, and SCN1A and MYH9 were found to be core genes in the network. Further analysis showed that MYH9 might be a modifier of SCN1A, and the variant in MYH9 might not only influence the severity of SCN1A-related seizure but also lead to thrombocytopenia in the bone marrow. In addition, another eight variants might also be co-factors that account for the proband’s complex phenotypes. Our data show that as a supplement to the traditional Mendelian monogenic model, digenic network analysis may provide reasonable models for the explanation of complex genotype–phenotype correlations.

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Velari, T. Cusma, L. Feoli Chiapella e V. Kosovel. "Osservazioni Cariosistematiche Sul Gruppo diGenista Sericea". Giornale botanico italiano 130, n. 1 (gennaio 1996): 369. http://dx.doi.org/10.1080/11263509609439606.

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Gray, Joseph N., e Roy Clarke. "Superlattice ordering in digenite,Cu2−xS". Physical Review B 33, n. 3 (1 febbraio 1986): 2056–58. http://dx.doi.org/10.1103/physrevb.33.2056.

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Ravele, Murendeni P., Opeyemi A. Oyewo e Damian C. Onwudiwe. "Controlled Synthesis of CuS and Cu9S5 and Their Application in the Photocatalytic Mineralization of Tetracycline". Catalysts 11, n. 8 (25 luglio 2021): 899. http://dx.doi.org/10.3390/catal11080899.

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Pure-phase Cu2−xS (x = 1, 0.2) nanoparticles have been synthesized by the thermal decomposition of copper(II) dithiocarbamate as a single-source precursor in oleylamine as a capping agent. The compositions of the Cu2−xS nanocrystals varied from CuS (covellite) through the mixture of phases (CuS and Cu7.2S4) to Cu9S5 (digenite) by simply varying the temperature of synthesis. The crystallinity and morphology of the copper sulfides were studied using X-ray diffraction (XRD), scanning electron microscopy (SEM), and transmission electron microscopy (TEM), which showed pure phases at low (120 °C) and high (220 °C) temperatures and a mixture of phases at intermediate temperatures (150 and 180 °C). Covellite was of a spherical morphology, while digenite was rod shaped. The optical properties of these nanocrystals were characterized by UV−vis–NIR and photoluminescence spectroscopies. Both samples had very similar absorption spectra but distinguishable fluorescence properties and exhibited a blue shift in their band gap energies compared to bulk Cu2−xS. The pure phases were used as catalysts for the photocatalytic degradation of tetracycline (TC) under visible-light irradiation. The results demonstrated that the photocatalytic activity of the digenite phase exhibited higher catalytic degradation of 98.5% compared to the covellite phase, which showed 88% degradation within the 120 min reaction time using 80 mg of the catalysts. The higher degradation efficiency achieved with the digenite phase was attributed to its higher absorption of the visible light compared to covellite.

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Deltas, C. "Digenic inheritance and genetic modifiers". Clinical Genetics 93, n. 3 (25 gennaio 2018): 429–38. http://dx.doi.org/10.1111/cge.13150.

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Schäffer, Alejandro A. "Digenic inheritance in medical genetics". Journal of Medical Genetics 50, n. 10 (19 giugno 2013): 641–52. http://dx.doi.org/10.1136/jmedgenet-2013-101713.

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Lupski, James R. "Digenic inheritance and Mendelian disease". Nature Genetics 44, n. 12 (28 novembre 2012): 1291–92. http://dx.doi.org/10.1038/ng.2479.

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Gioeva, Olesya A., Natalya A. Zubkova, Yulia V. Tikhonovich, Vasiliy M. Petrov, Evgeniy V. Vasilyev, Alexey V. Kiyaev, Lyudmila G. Chernich, Olga Y. Pollyak, Albina R. Yusupova e Anatoly N. Tiulpakov. "Clinical and molecular genetic characteristics of MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing". Problems of Endocrinology 62, n. 6 (12 gennaio 2017): 20–27. http://dx.doi.org/10.14341/probl201662620-27.

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The diagnosis of MODY should be verified by molecular genetic analysis. Recently the introduction of next-generation sequencing, allowing simultaneous analysis of several candidate genes, greatly facilitates the diagnosis of monogenic diseases including MODY. In addition, the simultaneous analysis of several candidate genes allows to identify cases with digenic and oligogenic inheritance. In this work we present the first description of MODY cases with digenic and oligogenic inheritance in our country.Aim — to characterize MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing.Material and methods. 256 subjects (age range, 0.3—25 yrs; males, n=149, females, n=107) were included in the study. The patients fulfilled the following MODY criteria: diabetes or intermediate hyperglycemia, absence of β-cell autoimmunity (ICA, GAD, IA2, IAA antibodies), preserved C-peptide secretion. Molecular genetic analysis was performed by next-generation sequencing using custom Ion Ampliseq gene panel and PGM semiconductor sequencer (Ion Torrent). All mutations were confirmed by Sanger sequencing.Results. 10 patients (8 probands, 1 sibling and 1 parent) showed digenic inheritance of MODY: 3 patients with combination of mutations in 2 candidate genes of MODY, 7 — in a candidate genes of MODY and another gene, associated with diabetes mellitus. In 1 case (sibling) showed oligogenic inheritance (mutations in GCK, HNF4A and INSR genes). Seven of the identified mutations were not previously described.Conclusion. Next-generation sequencing is useful in identifying of MODY cases with digenic and oligogenic inheritance, which is extremely important with potentially modifying effect on the phenotype.

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Li, Ang, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao, Xiu-Xiu Wei, Xin-Yi Xia et al. "The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family". Cytogenetic and Genome Research 154, n. 3 (2018): 132–36. http://dx.doi.org/10.1159/000488163.

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Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria, although the disease-causing mechanism remains unknown.

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UÇAR, Zofie. "BATTAL GAZİ VE DİGENİS AKRİTAS DESTANINDA SİMGELEŞEN KIYAFET KÜLTÜRÜ ÜZERİNE". Route Educational and Social Science Journal 1, n. 3 (1 gennaio 2014): 124. http://dx.doi.org/10.17121/ressjournal.128.

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Romanchuk, R., L. Shelton e R. Goldgof. "The Old Slavic Digenis Akritis: Free Retelling or Rhetorical Translation?" Vestnik of Saint Petersburg University. History 62, n. 2 (giugno 2017): 299–308. http://dx.doi.org/10.21638/11701/spbu02.2017.207.

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Heida, Annejet, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab e Natasja M. S. de Groot. "A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6". Case Reports in Medicine 2019 (20 giugno 2019): 1–4. http://dx.doi.org/10.1155/2019/1384139.

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We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.

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Kulhánková, Markéta. "Narrative coherence in Digenes Akrites (G)". Byzantine and Modern Greek Studies 45, n. 2 (6 luglio 2021): 184–98. http://dx.doi.org/10.1017/byz.2021.14.

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This article argues that coherence in medieval narratives was perceived differently than it is in modern literature, offering an analysis of coherence principles in Digenes Akrites which seem to have been more relevant for its original audiences. Drawing on contemporary narratology and recent research on comparable western works, the author does not search for one sole superordinate principle, but rather for so-called structures of mid-range coherence. The article contains some examples of such ‘centres of gravity’ – the schema, the scene and the meaning – in the G version.

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Germeshausen, M., C. Zeidler, M. Stuhrmann, M. Lanciotti, M. Ballmaier e K. Welte. "Digenic mutations in severe congenital neutropenia". Haematologica 95, n. 7 (10 marzo 2010): 1207–10. http://dx.doi.org/10.3324/haematol.2009.017665.

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Gazzo, Andrea, Daniele Raimondi, Dorien Daneels, Yves Moreau, Guillaume Smits, Sonia Van Dooren e Tom Lenaerts. "Understanding mutational effects in digenic diseases". Nucleic Acids Research 45, n. 15 (27 giugno 2017): e140-e140. http://dx.doi.org/10.1093/nar/gkx557.

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Espino, Meritxell, Mariona Font-Llitjós, Clara Vilches, Eduardo Salido, Esther Prat, Miguel López de Heredia, Manuel Palacín e Virginia Nunes. "Digenic Inheritance in Cystinuria Mouse Model". PLOS ONE 10, n. 9 (11 settembre 2015): e0137277. http://dx.doi.org/10.1371/journal.pone.0137277.

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Padalon-Brauch, Gilly, Dani Ben Amitai, Dan Vodo, Avikam Harel, Ofer Sarig, Eli Sprecher e Jacob Mashiah. "Digenic Inheritance in Epidermolysis Bullosa Simplex". Journal of Investigative Dermatology 132, n. 12 (dicembre 2012): 2852–54. http://dx.doi.org/10.1038/jid.2012.229.

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Weisschuh, Nicole. "Digenic Inheritance in Axenfeld Rieger Syndrome". Human Mutation 32, n. 10 (19 settembre 2011): iv. http://dx.doi.org/10.1002/humu.21593.

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Jouanno, Corinne. "Songs and music in Digenes Akrites". Byzantinoslavica 81, n. 1-2 (2023): 105–21. http://dx.doi.org/10.58377/byzslav.2023.6.

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Ge, Zhen-Hua, Yi-Xin Zhang, Dongsheng Song, Xiaoyu Chong, Peng Qin, Fengshan Zheng, Jing Feng e Li-Dong Zhao. "Excellent ZT achieved in Cu1.8S thermoelectric alloys through introducing rare-earth trichlorides". Journal of Materials Chemistry A 6, n. 29 (2018): 14440–48. http://dx.doi.org/10.1039/c8ta03195a.

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Puchner, Walter, Stylianos Alexiu, Georgios I. Thanopulos e Magda M. Kitromilidu. "Vasileios Digenis Akritis kai ta asmata tu Armuri kai tu ju tu Androniku (Basileios Digenis Akritas und die Lieder von Armuris und dem Sohn von Andronikos)". Jahrbuch für Volksliedforschung 37 (1992): 192. http://dx.doi.org/10.2307/848592.

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WEI, Ai-hua, Xiu-min YANG, Shi LIAN e Wei LI. "Genetic analyses of Chinese patients with digenic oculocutaneous albinism". Chinese Medical Journal 126, n. 2 (20 gennaio 2013): 226–30. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20121104.

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Abstract (sommario):

Background Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Some OCA patients carry mutations from different OCA genes. In this study, we investigated the frequency of digenic mutations in Chinese OCA patients. Methods Genomic DNAs were extracted from the blood samples of 184 clinically diagnosed OCA patients and 120 unaffected subjects. The amplified DNA segments of the exons and exon-intron boundaries were screened for mutations of TYR, OCA2, TYRP1, SLC45A2, and HPS1 by direct sequencing. To exclude the previously unidentified alleles from polymorphisms, samples from 120 unaffected controls were sequenced for the same regions of variations. Results In all 184 patients, 134 had two pathologic mutations on one locus. Eleven cases had no apparent pathologic mutations in any of the genes studied. Among the remaining 39 patients who had only one pathologic mutation, five patients (2.7% in total) were found to carry the mutational alleles on a second locus in TYR, OCA2 or SLC45A2. Of the five digenic OCA patients, four patients were clinically diagnosed as OCA2 and one patient as OCA1. A previous unidentified allele p.G188D in SLC45A2 was identified, which was not present in the 120 unaffected controls. Conclusions The identification of the digenic OCA patients suggests the synergistic roles among TYR, OCA2 and SLC45A2 during melanin biosynthesis, which may cause OCA under digenic mutations. This information will be useful for gene diagnosis and genetic counseling of OCA in China. Chin Med J 2013;126 (2): 226-230

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Ge, Shaqi, Ka Wai Wong e Ka Ming Ng. "Revitalizing digenite Cu1.8S nanoparticles with the localized surface plasmon resonance (LSPR) effect by manganese incorporation". New Journal of Chemistry 41, n. 2 (2017): 677–84. http://dx.doi.org/10.1039/c6nj03151j.

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Jiang, Qinghui, Haixue Yan, Jibran Khaliq, Yang Shen, Kevin Simpson e M. J. Reece. "Enhancement of thermoelectric properties by atomic-scale percolation in digenite CuxS". J. Mater. Chem. A 2, n. 25 (2014): 9486–89. http://dx.doi.org/10.1039/c4ta01250j.

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Quintana-Ramirez, Priscilla Vasthi, Ma Concepción Arenas-Arrocena, José Santos-Cruz, Marina Vega-González, Omar Martínez-Alvarez, Víctor Manuel Castaño-Meneses, Laura Susana Acosta-Torres e Javier de la Fuente-Hernández. "Growth evolution and phase transition from chalcocite to digenite in nanocrystalline copper sulfide: Morphological, optical and electrical properties". Beilstein Journal of Nanotechnology 5 (15 settembre 2014): 1542–52. http://dx.doi.org/10.3762/bjnano.5.166.

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Copper sulfide is a promising p-type inorganic semiconductor for optoelectronic devices such as solar cells, due its small band gap energy and its electrical properties. In this work nanocrystalline copper sulfide (Cu x S), with two stoichiometric ratios (x = 2, 1.8) was obtained by one-pot synthesis at 220, 230, 240 and 260 °C in an organic solvent and amorphous Cu x S was obtained in aqueous solution. Nanoparticle-like nucleation centers are formed at lower temperatures (220 °C), mixtures of morphologies (nanorods, nanodisks and nanoprisms) are seen at 230 and 240 °C, in which the nanodisks are predominant, while big hexagonal/prismatic crystals are obtained at 260 °C according to TEM results. A mixture of chalcocite and digenite phases was found at 230 and 240 °C, while a clear transition to a pure digenite phase was seen at 260 °C. The evolution of morphology and transition of phases is consistent to the electrical, optical, and morphological properties of the copper sulfide. In fact, digenite Cu1.8S is less resistive (346 Ω/sq) and has a lower energy band gap (1.6 eV) than chalcocite Cu2S (5.72 × 105 Ω/sq, 1.87 eV). Low resistivity was also obtained in Cu x S synthesized in aqueous solution, despite its amorphous structure. All Cu x S products could be promising for optoelectronic applications.

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