Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature

2016 ◽  
Vol 173 (2) ◽  
pp. 556-560 ◽  
Author(s):  
Alice Bonuccelli ◽  
Angelo Valetto ◽  
Alessandro Orsini ◽  
Angela Michelucci ◽  
Anna Rita Ferrari ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Review Of The Literature ◽  
Clinical Genetic ◽  
Dysmorphic Features ◽  
The Family

scholarly journals Distribution and Genetic Characterization of Border Disease Virus Circulating in Sardinian Ovine Flocks

Pathogens ◽  
2020 ◽  
Vol 9 (5) ◽  
pp. 360
Author(s):  
Ilaria M. Piras ◽  
Silvia Dei Giudici ◽  
Manlio Fadda ◽  
Antonio G. Anfossi ◽  
Annalisa Oggiano ◽  
...  
Keyword(s):  
Disease Virus ◽  
Genetic Characterization ◽  
Border Disease Virus ◽  
Sheep Population ◽  
Border Disease ◽  
The Family ◽  
Antibody Positivity ◽  
Bulk Tank ◽  
Farming Industry

Border Disease (BD) is a worldwide distributed pathology accountable for significant losses in the sheep and goat farming industry. The etiological agent is a Pestivirus within the family Flaviviridae called border disease virus (BDV). Despite the Sardinian ovine population being by far larger than any other Italian region, the prevalence and distribution of BD on the island are unknown. Here, we aim to determine the distribution of BDV in sheep flocks and to genetically characterize the circulating strains in Sardinia. The geographical distribution, antibody positivity, and viral genome presence have been analysed for 1286 sheep flocks distributed all over the island from bulk tank milk sampled between May 2014 and 2015. Of the flocks tested, 11.28% (95% CI 9.66–13.12) resulted positive for the presence of anti-pestivirus antibodies with an uneven distribution between Sardinian provinces. In addition, using RT-PCR, nine BDV genomes were amplified from milk pellets of the seropositive samples. Phylogenetic analysis revealed that all the viruses amplified clustered in the same group classified as BDV-7. This represents the first study on the distribution of pestivirus infection and genetic characterization of BDV strains circulating in the Sardinian sheep population. Future studies are needed to clarify the origin, the evolution, and the epidemiology of BDV-7 in Sardinia.

scholarly journals Plumularioid hydroids (Cnidaria: Hydrozoa) from off New Caledonia collected during KANACONO and KANADEEP expeditions of the French Tropical Deep-Sea Benthos Program

2020 ◽  
Author(s):  
Horia R. Galea ◽  
Davide Maggioni
Keyword(s):  
Deep Sea ◽  
Genetic Characterization ◽  
New Caledonia ◽  
Valid Species ◽  
Western Coast ◽  
New Genera ◽  
Phylogenetic Reconstructions ◽  
The Family ◽  
First Time

This study reports on 25 species of hydroids occurring in the collections gathered during KANACONO and KANADEEP expeditions carried out in the SE of New Caledonia in 2016, and off the western coast of the island in 2017, respectively. Of these, 19 have not been dealt with in earlier reports on these collections. Two new genera and four new species are described, viz, Actinopluma mirifica Galea gen. et sp. nov., provisionally assigned to the family Kirchenpaueriidae Stechow, 1921, Schizoplumularia helicoidalis sp. nov., belonging to the Plumulariidae McCrady, 1859, and Corhiza patula Galea sp. nov. and Thamnopteros uniserius Galea gen. et sp. nov., both placed in the family Halopterididae Millard, 1962. The gonotheca and the medusoid gonophore of Plumularia contraria Ansín Agís et al., 2014 are described for the first time, allowing a genus transfer to Dentitheca Stechow, 1919, as D. contraria comb. nov. Plumularia conjuncta Billard, 1913, known earlier from a minute portion of colony, is redescribed based on a complete, though infertile, specimen. Similarly, complete specimens corresponding to the hydroid previously referred to as Antennella megatheca Ansín Agís et al., 2009 are documented, allowing a provisional reallocation to Corhiza Millard, 1962 and a description of its so far unknown gonothecae. Fertile material assignable to the poorly-known Monostaechas fisheri Nutting, 1905 allows the recognition of this hydroid as a valid species, distinct from M. quadridens (McCrady, 1859). Most taxa are illustrated to validate the reliability of their identifications. Finally, phylogenetic reconstructions of the families Aglaopheniidae, Plumulariidae, and Halopterididae, based on the 16S rRNA, allowed a first genetic characterization of some of the species dealt with in this work.

The genus Phyllophorella (Phyllophoraceae, Rhodophyta) on the central coast of Peru, range extensions and anatomical description of the female gametophyte and carposporophyte

Phytotaxa ◽  
2020 ◽  
Vol 443 (1) ◽  
pp. 51-66
Author(s):  
NATALIA ARAKAKI ◽  
MELISSA PEREZ-ALANIA ◽  
FLORENCE TELLIER ◽  
PATRICIA GIL-KODAKA ◽  
MARIA ELIANA RAMIREZ
Keyword(s):  
Female Gametophyte ◽  
Genetic Characterization ◽  
Taxonomic Status ◽  
Field Work ◽  
Central Coast ◽  
Field Surveys ◽  
The Family ◽  
Carpogonial Branch ◽  
First Time

Phyllophorella was recently described from two localities on the central coast of Peru (12°S), based on the endemic species Phyllophora (Ph.) peruviana. The genus currently accommodates three species, Phyllophorella (P.) peruviana, P. humboldtiana and P. limaensis. Recent field surveys for Phyllophorella on the central coast of Peru led to the discovery of collections outside the originally reported ranges. Morphological, anatomical, and genetic characterization of the specimens confirms range extensions for P. peruviana to 9° S and 15° S, and P. humboldtiana to 12° S and 15° S. A combined phylogenetic analysis of rbcL and COI-5P gene sequences supports the taxonomic status of these two species and reasserts the genus as monophyletic. Anatomically, the two species differ in nemathecial structure. Phyllophorella peruviana displays dome-shaped and well-defined circular nemathecia, whereas in P. humboldtiana they are irregular and diffuse in form. Mature cystocarps were observed for the first time in Phyllophorella, in P. humboldtiana from Lima and Ica, Peru. Phyllophorella, as well as the other genera classified to the family Phyllophoraceae, have a procarpic sexual system, with a carpogonial branch of three cells; the cystocarp develops a thickened cortex, is immersed in the medulla, and lacks a pericarp and an ostiole. This study demonstrates that field work, together with morphological, developmental, and genetic analyses, are useful methods for improving our understanding of seaweed distributions and systematics.

An integrative study of some species of Gonaxia Vervoort, 1993 from off New Caledonia, with the establishment of Gonaxiidae as a new family of thecate hydroids (Cnidaria: Hydrozoa)

Zootaxa ◽  
2021 ◽  
Vol 5004 (3) ◽  
pp. 401-429
Author(s):  
HORIA R. GALEA ◽  
DAVIDE MAGGIONI
Keyword(s):  
Genetic Characterization ◽  
New Caledonia ◽  
Nominal Species ◽  
New Family ◽  
Deep Waters ◽  
The Family ◽  
Morphological Approach ◽  
Integrative Study ◽  
First Time

Ten species belonging to the genus Gonaxia Vervoort, 1993 occur in recent collections gathered by KANACONO (2016), KANADEEP (2017) and KANADEEP 2 (2019) expeditions of the French Tropical Deep-Sea Benthos Program in deep waters of the New Caledonian region. They were studied using the classical, morphological approach, supplemented by the first genetic characterization of the genus undertaken so far. Two species are previously undescribed, namely G. incisa Galea, sp. nov. and G. solenoscyphoides Galea, sp. nov. Additional notes on the remaining species are provided, notably the discovery of the female gonothecae of G. crassicaulis Vervoort, 1993 and G. perplexa Vervoort, 1993. Lofty colonies, with distinctive cladia-bearing branches spirally-arranged around the stem, assignable to the recently-described G. plumularioides Galea, 2016 actually represent fully-developed colonies of G. errans Vervoort, 1993, as demonstrated using molecular markers, the latter nominal species having priority. Its unusual, club-shaped, longitudinally-ridged gonothecae, fully free from the stem, are described for the first time. Supplementary notes on the hydrotheca of G. crassicaulis Vervoort, 1993 are provided, together with the description of a distinctive gutter of perisarc channeling the coenosarc of the colony along the lumen of both the stem and cladia. A multi-locus phylogenetic hypothesis of the Macrocolonia supports the establishment of the family Gonaxiidae Maggioni, fam. nov., to accommodate the species dealt with herein.

Complete sequence and genetic characterization of Raspberry latent virus, a novel member of the family Reoviridae

2011 ◽  
Vol 155 (2) ◽  
pp. 397-405 ◽  
Author(s):  
Diego F. Quito-Avila ◽  
Wilhelm Jelkmann ◽  
Ioannis E. Tzanetakis ◽  
Karen Keller ◽  
Robert R. Martin
Keyword(s):  
Genetic Characterization ◽  
Complete Sequence ◽  
Latent Virus ◽  
The Family

scholarly journals Genetic Characterization of ablaVEB-2-Carrying Plasmid in Vibrio parahaemolyticus

2016 ◽  
Vol 60 (11) ◽  
pp. 6965-6968 ◽  
Author(s):  
Ruichao Li ◽  
Lianwei Ye ◽  
Zhiwei Zheng ◽  
Edward Wai Chi Chan ◽  
Sheng Chen
Keyword(s):  
Multidrug Resistance ◽  
Gene Transfer ◽  
Vibrio Parahaemolyticus ◽  
Genetic Characterization ◽  
Aquatic Organisms ◽  
Content Type ◽  
Genetic Elements ◽  
Shrimp Sample ◽  
The Family

ABSTRACTThis report describes the first detection of ablaVEB-2gene in aVibrio parahaemolyticusstrain isolated from a shrimp sample. TheblaVEB-2gene was carried on a novel Inc-type plasmid that was likely to have originated from aquatic organisms, as indicated by a comparison with other known genetic elements in the GenBank database. However, the plasmid contains resistance elements usually harbored by members of the familyEnterobacteriaceae, suggesting that gene transfer events occurred and contributed to the formation of this multidrug resistance-encoding plasmid.

scholarly journals Case Report and Genomic Characterization of a Novel Porcine Nodavirus in the United States

Viruses ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 73
Author(s):  
Chenghuai Yang ◽  
Leyi Wang ◽  
Kent Schwartz ◽  
Eric Burrough ◽  
Jennifer Groeltz-Thrush ◽  
...  
Keyword(s):  
United States ◽  
Genetic Characterization ◽  
The United States ◽  
Nucleotide Identity ◽  
Flock House Virus ◽  
The Family ◽  
Genomic Characterization ◽  
A New Species ◽  
Generation Sequencing

Nodaviruses are small bisegmented RNA viruses belonging to the family Nodaviridae. Nodaviruses have been identified in different hosts, including insects, fishes, shrimps, prawns, dogs, and bats. A novel porcine nodavirus was first identified in the United States by applying next-generation sequencing on brain tissues of pigs with neurological signs, including uncontrollable shaking. RNA1 of the porcine nodavirus had the highest nucleotide identity (51.1%) to the Flock House virus, whereas its RNA2 shared the highest nucleotide identity (48%) with the RNA2 segment of caninovirus (Canine nodavirus). Genetic characterization classified porcine nodavirus as a new species under the genus Alphanodavirus. Further studies are needed to understand the pathogenicity and clinical impacts of this virus.

scholarly journals Phenetic and genetic characterization of selected economically important species in the family Zingiberaceae

2018 ◽  
Vol 3 (1) ◽  
pp. 34
Author(s):  
A. B. W. R. Silva ◽  
H. Herath ◽  
S. P. Senanayake ◽  
D. B. R. Swarnathilaka
Keyword(s):  
Genetic Characterization ◽  
Important Species ◽  
The Family

scholarly journals Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

2020 ◽  
Vol 36 (7) ◽  
pp. 1367-1377
Author(s):  
Anudeep Yekula ◽  
Connor Grant ◽  
Mihir Gupta ◽  
David R. Santiago-Dieppa ◽  
Pate J. Duddleston ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Pierre Robin Sequence ◽  
Review Of The Literature ◽  
Spinal Disease ◽  
Robin Sequence ◽  
Pierre Robin

Complete sequence and genetic characterization of pigeon avian nephritis virus, a member of the family Astroviridae

2011 ◽  
Vol 156 (9) ◽  
pp. 1559-1565 ◽  
Author(s):  
W. Zhao ◽  
A. L. Zhu ◽  
Y. Yu ◽  
C. L. Yuan ◽  
C. X. Zhu ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Complete Sequence ◽  
Avian Nephritis Virus ◽  
The Family
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