Search results for " mosaici"
showing 10 items of 24 documents
Ancient goat genomes reveal mosaic domestication in the Fertile Crescent
2018
How humans got their goatsLittle is known regarding the location and mode of the early domestication of animals such as goats for husbandry. To investigate the history of the goat, Dalyet al.sequenced mitochondrial and nuclear sequences from ancient specimens ranging from hundreds to thousands of years in age. Multiple wild populations contributed to the origin of modern goats during the Neolithic. Over time, one mitochondrial type spread and became dominant worldwide. However, at the whole-genome level, modern goat populations are a mix of goats from different sources and provide evidence for a multilocus process of domestication in the Near East. Furthermore, the patterns described suppor…
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
2020
IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions.Materials and methodsSubsequent data sharing allowed the clustering of de novo TFE3 variants identified by exome sequencing on DNA extracted from leucocytes in patients referred for syndromic ID with or with…
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
2016
Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
2019
International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation. Here we describe four cases of women with typical features of FDH, in whom a PORCN mutation was found in DNA from affected cutaneous tissue b…
Vescovo e cattedrale a Cirene nel VI secolo: a proposito della basilica orientale
2013
Si presenta la fase bizantina della basilica insistendo sul valore docetico dei mosaici e sul ruolo del vescovo committente.
Restauro di una Chiesa Bizantina a En-Nitl in Giordana.
2009
L'articolo descrive il progetto di restauro di due piccole Chiese. Dopo aver individuato la successione temporale delle strutture murarie, l’esame si è concentrato sul mosaico rinvenuto nella Chiesa principale, dedicata a San Sergio. Il progetto è suddiviso in tre fasi: la prima fase riguarda l’intervento di conservazione del mosaico pavimentale; la seconda fase prende in esame la copertura della Chiesa, con una tenda di quelle utilizzate dei beduini del deserto; la terza fase è dedicata al cantiere di restauro.
Estimating the Best Reference Homography for Planar Mosaics From Videos
2015
This paper proposes a novel strategy to find the best reference homography in mosaics from video sequences. The reference homography globally minimizes the distortions induced on each image frame by the mosaic homography itself. This method is designed for planar mosaics on which a bad choice of the first reference image frame can lead to severe distortions after concatenating several successive homographies. This often happens in the case of underwater mosaics with non-flat seabed and no georeferential information available. Given a video sequence of an almost planar surface, sub-mosaics with low distortions of temporally close image frames are computed and successively merged according to…
Dissecting and Reassembling Color Correction Algorithms for Image Stitching
2018
This paper introduces a new compositional framework for classifying color correction methods according to their two main computational units. The framework was used to dissect fifteen among the best color correction algorithms and the computational units so derived, with the addition of four new units specifically designed for this work, were then reassembled in a combinatorial way to originate about one hundred distinct color correction methods, most of which never considered before. The above color correction methods were tested on three different existing datasets, including both real and artificial color transformations, plus a novel dataset of real image pairs categorized according to …