115 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
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
Andrew Sekora: Conceptual and developmental transformations author's series about Ferda in the 30th to 50th years of the 20th century
No full textThis bachelor thesis deals with conceptual and developmental modifications in the cycle of Ondřej Sekora about Ferda Mravenec and its purpose is to clarify the whole image of his literary character Freda Mravenec. The theoretical part follows up a personality of the author Ondřej Sekora, whose fate, I consider as one of the most important aspects, which are involved in the development. Then, the attention is paid to authorial fairy tale with a humanized hero in connection with the main ant´s hero, and to modification of the children´s literature after the year 1948, because the time and political tendencies play main role in this creating. The introduction of the practical part consists of some critics´ opinions from monographs, and they are going to be compared with the information, that I got during analysing particular book. The analysis follows and describes the aspects which influent the development of the character Ferda Mravenec in every single book
Motivating and remuneration the company Ferda, czech advertising post
No full textDiplomová práce "Motivování a odměňování ve firmě Ferda, česká reklamní pošta" obsahuje rozsáhlé informace o odměňování a motivování. V první části jsou obsaženy základní pojmy z oblasti vedení lidí a řízení lidských zdrojů a personální činnosti jako celku. V druhé části se autorka věnuje motivačním teoriím, faktorům motivace a samozřejmě také druhům motivace a demotivaci, jejíž odstranění je základem pro správné motivování pracovníků. Třetí část se zaměřuje na odměňování, které je jednou z možností motivace a na podrobné rozebrání druhů motivace pro určité pracovníky. Čtvrtá část obsahuje důležité trendy v této oblasti. Pátá kapitola je věnována charakteristice motivování a odměňování v konkrétní firmě a poslední kapitola se věnuje zhodnocení a doporučení pro konkrétní firmu.The thesis "Motivating and remuneration in the company Ferda, Czech advertising post" contains extensive information on remuneration and motivation. The first part contains the basic concepts leadership and management of human resources and HR activities as a whole. The second part the author deals motivational theories, factors of motivation and of course kinds of motivation and demotivation, whose removal is basis of well-motivated workers. The third part is focused on remuneration, which is one of the options on the motivation and detailed characterization kinds of motivation for some workers. The fourth part contains important trends in this area. The fifth part is devoted to the characteristics motivation and remuneration in the specific company and the last part is devoted to evaluation and recommendations for a company.Ústav podnikové ekonomiky a managementuStudentka seznámila komisi s obsahem a cílem své diplomové práce. Cílem práce byla analýza motivování a odměňování pracovníků ve vybraném podniku s cílem vymezit nedostatky a návrh na zlepšení. Studentka seznámila komisi se závěry práce a odpověděla na otázky položené vedoucím práce a oponentem:
1. Autorka by se v rámci rozpravy měla vyjádřit k postupným manažerským funkcím u sledované společnosti.2. Budou navrhovaná doporučení aplikována?
3. Uvažuje diplomantka o etice v motivaci a stimulaci?Dokončená práce s úspěšnou obhajobo
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3
No full textPreviously we have described a novel and distinct form of non-syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family. The limb findings include mesoaxial reduction of the fingers, synostoses of the third and fourth metacarpals with associated single phalanges, fifth finger clinodactyly, and preaxial webbing of toes. We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1). The identification of a single locus for this complex limb malformation in two families with distinct ethnic backgrounds supports the hypothesis that this is a distinct form of syndactyly. Since this form of syndactyly is phenotypically distinct from the previously described eight types, we propose to name this phenotype (m) under bar esoaxial (s) under bar yostotic (s) under bar yndactyly with phalangeal reduction (MSSD, type IX syndactyly, Malik-Percin type). (c) 2005 Wiley-Liss, Inc
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
The Element of Water in the Tales and Strories of Ferda İzbudak Akinci
No full textThis is a study conducted on the works in the field of childrens literature by Ferda İzbudak Akıncı who has achieved important goals and created works in the field of childrens literature. It has become necessary to conduct the study due to the fact that the author and her works had not been studied with a comprehensive analysis, and the element of water used frequently and functionally in her works has reached remarkable dimensions. We determined the sample group randomly selected among the works of the author in the field of childrens literature, in order to determine with which functions the element of water appeared or did not. In the study, we used document analysis as a qualitative research method. We obtained various codes related to the element of water in the documents analysed. These are%253B rescue, revival, relief and entertainment. In the traditional sense, we observed that mother figure was created based on the element of water%253B missing parents were replaced with the nature. However, given that the mother figure is not just any random mother, her attributes reach up to supernal dimensions%253B we believe that the author intended to create a mother goddess from a species existing in the form of Kybele. Since the works contain not only the good aspects of water, but also the destructive sides, we have concluded that god-like aspect of water is completed by using a punishing structure. Waters having protection and auxiliary elements bonded to it, and accepting the natural formations hosting water as sanctuaries can be listed among grounds of our conclusion
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