119 research outputs found
Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
No full textMesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait is genetically distinct from other syndactyly types, and through autozygosity mapping we had identified a locus on chromosome 17p13.3 for this unique limb malformation. Here, we extend the number of independent pedigrees from various geographic regions segregating MSSD to a total of six. We demonstrate that three neighboring missense mutations affecting the highly conserved DNA-binding region of the basic helix-loop-helix A9 transcription factor (BHLHA9) are associated with this phenotype. Recombinant BHLHA9 generated by transient gene expression is shown to be located in the cytoplasm and the cell nucleus. Transcription factors 3, 4, and 12, members of the E protein (class I) family of helix-loop-helix transcription factors, are highlighted in yeast two-hybrid analysis as potential dimerization partners for BHLHA9. In the presence of BHLHA9, the potential of these three proteins to activate expression of an E-box-regulated target gene is reduced considerably. BHLHA9 harboring one of the three substitutions detected in MSSD-affected individuals eliminates entirely the transcription activation by these class I bHLH proteins. We conclude that by dimerizing with other bHLH protein monomers, BHLHA9 could fine tune the expression of regulatory factors governing determination of central limb mesenchyme cells, a function made impossible by altering critical amino acids in the DNA binding domain. These findings identify BHLHA9 as an essential player in the regulatory network governing limb morphogenesis in humans
Spatiotemporal Distribution and Habitat Preferences of Ostracods in the Coastal Karagol Lagoon, Enez, Edirne, Turkey
No full textKaragol Lagoon is a shallow coastal wetland in the Province of Edirne, Turkey. It is far from settlements as well as not affected by fishing or other human activities and, therefore, its biota can be considered as a source of reference data for a coastal wetland in favourable conditions. Benthic ostracod communities were studied throughout the annual cycle (every second month) at three stations in the wetland. Two euryhaline and eurythermal ostracod species were recorded: Cyprideis torosa and Loxoconcha elliptica. They were present at all three stations and in all seasonal samples, showing substantial spatial and temporal variations. Cyprideis torosa was the dominant species, while L. elliptica was a secondary species. The abundance of C. torosa and L. elliptica was positively correlated with the air temperature, water temperature and salinity but negatively correlated with the oxygen saturation. The abundance of C. torosa was also positively correlated with the pH of the water
SEASONAL DISTRIBUTION OF OSTRACODA IN BANDIRMA BAY AND ERDEK BAY, SEA OF MARMARA, TURKEY
No full textA total of 112 species of Ostracoda was identified as a result of seasonal sampling (four periods a year corresponding to the seasons) at 16 stations in Bandirma Bay and Erdek Bay (Sea of Marmara, Turkey). Fifty-five of these represent new records for the fauna of the Sea of Marmara, and 18 are new records for the Recent marine fauna of Turkey. The number of ostracode species found in Erdek Bay was generally higher than that found in Bandirma Bay, except in spring. Herein the ostracode fauna of the region is documented and its structure discussed
The Ecology of The Ostracoda (Crustacea) Species Obtained From Erdek Bay (The Marmara Sea, Turkey)
No full textThe aim of this study was to determine the ecology of the Ostracoda species in the sediments collected from the Erdek Bay and to observe the relationship between ecological parameters with the number of Ostracoda species and individual numbers. Sediment and water samples have been collected seasonally from 8 stations of the study area from six different depths (0.3; 1; 5; 10; 20; 30 m). Ecological features (temperature, salinity, dissolved oxygen, mud percentage, total organic carbon, and total calcium carbonate) of 92 Ostracoda species were obtained. The abundance of recent Ostracoda species and their distributional situation according to seasonal environmental factors were evaluated. The highest number of Ostracoda species and individuals were observed between 10-30 m deep stations with the highest salinity and muddy sediments. Loxoconcha rhomboidea and Xestoleberis margaritea species showed a wide distribution in different ecological environments in the research area. Also species and individual numbers of Ostracoda showed a positive correlation with ecological parameters except temperature and dissolved oxygen
Diversity, spatiotemporal distribution, abundance, species composition and habitat preferences of Ostracoda in Akbuk and Akdeniz coastal mesosaline lagoons (Mugla, the South Aegean Region, Turkey)
No full textAkdeniz and Akbuk lagoons are part of a shallow coastal ecosystem of great aesthetic and ecological importance, located in Mugla Province in the southern Aegean region of Turkey. In the present study, four expeditions to collect ostracods from these lagoons were conducted in May, July, October, and November of 2008. Benthic samples were obtained monthly and several environmental factors were recorded simultaneously in situ. The ecological preferences of the ostracods were monitored, and qualitative and quantitative samples were collected from three sites in Akdeniz lagoon and two sites in Akbuk lagoon. Three ostracod taxa (Cyprideis torosa, Loxoconcha elliptica and Cytherois fischeri) were identified from the Akdeniz lagoon sampling sites and one species (Cyprideis torosa) from the Akbuk lagoon sampling sites. We present and analyze the dominance and distribution of ostracod assemblages and their relationships to environmental factors: temperature, dissolved oxygen, percentage oxygen saturation, pH, redox potential, salinity, and electrical conductivity) using classification and ordination techniques. Canonical correspondence analysis (CCA) is used to characterize the relationship between ostracods and the environmental variables. Approximately 82% of the correlation between the community composition and environmental variables was explained by the first axis of the CCA ordination for the Akdeniz lagoon. The study revealed that the distribution and population density of ostracod species depends on the physicochemical properties of the environment. The reason for this is that Cyprideis torosa and Loxoconcha elliptica are euryhaline species
Ecological interactions and the distribution, abundance, and diversity of ostracod species associated with some coastal brackish karstic springs in southwest Turkey
No full textOstracod species obtained from five coastal karstic brackish water springs on the Aegean Sea coastline were evaluated using multivariate statistical methods. Information on the diversity and distribution of ostracod fauna associated with coastal brackish karstic springs and on the ecological factors affecting them was obtained. A total of eight ostracod species were identified in five karstic brackish springs (southwest Aegean region, Turkey) in May, July, October, and December 2016. Cyprideis torosa (Jones, 1850) and Loxoconcha elliptica (Brady, 1868) were the most abundant species. The three main clustering groups in an unweighted pair group mean averages (UPGMA) dendrogram created by Jaccard's coefficient test provided an understanding of the faunal similarity among the sampling stations. Canonical correspondence analysis (CCA) was used to explain the relationships between the species and environmental variables. Results revealed that salinity, water-flow velocity, and distance to the sea were the most significant factors in species diversity and composition in the five coastal karstic brackish springs. Results of the Spearman correlation analysis showed significant correlations between ostracod species and environmental variables. Protection should be put in place for the five karstic brackish springs for their long-term preservation. (C) 2020 Elsevier B.V. All rights reserved
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome.
No full textDevelopment of the kidney is initiated when the ureteric bud (UB) branches from the Wolffian duct and invades the overlying metanephric mesenchyme (MM) triggering the mesenchymal/epithelial interactions that are the basis of organ formation. Multiple signaling pathways must be integrated to ensure proper timing and location of the ureteric bud formation.We have used gene targeting to create an Lrp4 null mouse line. The mutation results in early embryonic lethality with a subpenetrant phenotype of kidney agenesis. Ureteric budding is delayed with a failure to stimulate the metanephric mesenchyme in a timely manner, resulting in failure of cellular differentiation and resulting absence of kidney formation in the mouse as well as comparable malformations in humans with Cenani-Lenz syndrome.Lrp4 is a multi-functional receptor implicated in the regulation of several molecular pathways, including Wnt and Bmp signaling. Lrp4(-/-) mice show a delay in ureteric bud formation that results in unilateral or bilateral kidney agenesis. These data indicate that Lrp4 is a critical regulator of UB branching and lack of Lrp4 results in congenital kidney malformations in humans and mice
The priest and healer Frantisek Ferda
No full textThis study is an attempt for a comprehensive biography of the Czech priest and healer František Ferda. After completing theology studies, he initially served as a parish priest in the Sedlčany region in the 1940s. In 1951, he was arrested by the State Security (StB), accused of alleged anti-state activities and sentenced to fourteen years' imprisonment, of which he spent nine in the harshest communist prisons. In addition to the basic biography, the author also addresses the reasons behind Ferda's arrest. The author demonstrates that the activities of the Orel group "Modré květy", for which Ferda was sentenced, were based on real foundations; however, Ferda himself played only a marginal role within the group and did not actively participate in resistance activities against the regime. In 1960, he was released under a presidential amnesty by president Novotný. In the 1960s, he initially worked as a manual labourer, and during the 1970s and 1980s, he acted as a healer in the Klatovy region. He soon became well-known throughout the country and abroad for his ability to effectively help people through clairvoyant diagnosis of illness, herbal cures, or suitably designed diets in the treatment of even very serious diseases, thereby helping thousands of ill people. The work provides a detailed insight...Práce je pokusem o sepsání první ucelené biografie českého kněze a léčitele Františka Ferdy. Ten byl po ukončení studia teologie nejprve ve 40. letech 20. století farářem na Sedlčansku. V roce 1951 byl zatčen StB a obviněn z údajné protistátní činnosti a následně odsouzen ke čtrnácti letům odnětí svobody, z nichž nakonec devět strávil v nejtvrdších komunistických žalářích, vč. likvidačního tábora na Jáchymovsku. Autor se v práci zabývá kromě mapování základní biografie také otázkou důvodů Ferdova zatčení a uvěznění. V práci se autorovi podařilo prokázat, že činnost orelské skupiny Modré květy, v rámci níž byl odsouzen, byla postavena na reálném základě, nicméně kněz byl jen okrajovou osobou v celé skupině a sám se do žádné odbojové činnosti proti komunistickému režimu aktivně nezapojil. V roce 1960 byl propuštěn na základě amnestie prezidenta Novotného. V 60. letech působil nejprve jako manuální pracovník, v letech 70. až 80. působil na v Klatovsku jako léčitel a brzy se stal známým po celé republice i ve světě pro svoji schopnost efektivní pomoci prostřednictvím jasnovidné diagnostiky nemocného a bylinných kúr či vhodně navržených diet v úzdravě i velmi závažných onemocnění, čímž pomohl tisícům nemocných. Práce přináší detailní pohled na některé doposud málo prozkoumané části jeho života. KLÍČOVÁ...Katedra dějin a didaktiky dějepisuFaculty of EducationPedagogická fakult
ASSESSMENT OF FACTORS INFLUENCING THE SPATIO-TEMPORAL DISTRIBUTION, ABUNDANCE, AND DIVERSITY OF OSTRACODA (CRUSTACEA) SPECIES IN A COASTAL LAGOON: KAMIL ABDUS LAGOON (ISTANBUL, TURKEY)
No full textKamil Abdus (Balik) Lagoon, a coastal lagoon located in the Sea of Marmara (Turkey), is threatened by human activities, as are many of the aquatic habitats in Turkey. The supplying of new knowledges for biodiversity conservation from threatened habitats is quite important for the conservation of them. The lagoon's species composition, and their temporal and spatial distribution, diversity, and dominance were investigated and the results were correlated with the environmental variables. As shown in the analyses (Spearman's correlation, CCA), distribution of ostracod species are associated with salinity values. Twenty-one ostracod species were identified from the four stations sampled between February 2016 and January 2017 in Kamil Abdus Lagoon (Istanbul, Turkey). The most abundant species were determined as Cyprideis torosa, Aurila arborescens, Loxoconcha rhomboidea, Xestoleberis communis, and Xestoleberis aurantia. The ostracod fauna in Kamil Abdus Lagoon include 13 species of littoral to sublittoral/phytal marine forms, one brackish (euryhaline) form (Cyprideis torosa), and six halophilic freshwater continental forms. The results show that the physico-chemical conditions and morphologic structure of the lagoon has to be protected with last status and highlighted the need of strong policies for wetlands protection. We believe that our results concerning the ostracod ecology in Turkey lagoons can be of use for understanding of changes in enviromental conditions
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