LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 3 of total 3

Search options

  1. Article ; Online: ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

    Hyun-Sook Park / Eirini Papanastasi / Gabriela Blanchard / Elena Chiticariu / Daniel Bachmann / Markus Plomann / Fanny Morice-Picard / Pierre Vabres / Asma Smahi / Marcel Huber / Christine Pich / Daniel Hohl

    Communications Biology, Vol 4, Iss 1, Pp 1-

    2021  Volume 13

    Abstract: Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal ... ...

    Abstract Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal body in epidermal cells, interacts with the cilia machinery, and is needed for proper ciliogenesis.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. Article ; Online: Creutzfeldt-Jacob Illness and Other Prion Diseases (Review)

    José L Colina B / Gabriela Blanchard

    Kasmera, Vol 31, Iss 2, Pp 65-

    2003  Volume 70

    Abstract: Creutzfeldt-Jakob disease (ECJ) is a sub-acute human encephalopathy and progressive associated with a degeneration central nervous system spongiform (SNC). The ECJ belongs to the encephalopathies group transmissible spongiform with an aberrant protein ... ...

    Abstract Creutzfeldt-Jakob disease (ECJ) is a sub-acute human encephalopathy and progressive associated with a degeneration central nervous system spongiform (SNC). The ECJ belongs to the encephalopathies group transmissible spongiform with an aberrant protein metabolism prions (PrP). Its pathophysiological mechanism exact is still not known clearly but It is thought that this neurodegeneration is related to protein accumulation altered prionics (5, 13, 14, 24, 37). The protein of prions originally identified in rodents infected with Scrapie, it is encoded for a single copy chromosomal gene, this gene is highly conserved and has been identified in more than 13 species of mammals It is usually composed by two exons not translated into 5 separate for a 2 Kb intron. The prevailing uncertainty about PrP and its conformational malleability I dictate the search for linked genes and regulatory elements that could play an active role, but to date it has not been possible to identify any gene related (molecular carbines, etc.), but if some characteristics have been observed not expected within wild genes of PrP.
    Keywords Enfermedad de Creutzfeldt-Jakob ; priones ; encefalopatía espongiforme ; Arctic medicine. Tropical medicine ; RC955-962 ; Public aspects of medicine ; RA1-1270
    Language Spanish
    Publishing date 2003-11-01T00:00:00Z
    Publisher Universidad de Zulia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Equine Encephalitis in Venezuela. A Clinical Epidemiological Profile of the 1995 Epidemic

    José Luis Colina B / Gabriela Blanchard

    Kasmera, Vol 31, Iss 1, Pp 32-

    2003  Volume 38

    Abstract: Equine encephalitis in Venezuela has presented itself in epidemic outbreaks in the Venezuelan Guajira since 1936. In 1938 the causal agent was isolated for the first time in a sick horse in Venezuela. The predominant syndrome is that of a self-limiting ... ...

    Abstract Equine encephalitis in Venezuela has presented itself in epidemic outbreaks in the Venezuelan Guajira since 1936. In 1938 the causal agent was isolated for the first time in a sick horse in Venezuela. The predominant syndrome is that of a self-limiting illness similar to the common cold, and only 4% of the people infected, principally children under 5 years of age, suffer encephalitis. Mortality in children under 5 with encephalitis is 35%. The clinical epidemiological profile of Equine encephalitis in Venezuela between July 15 and October 17 1995, is described and analyzed in relation to 5 municipalities: Maracaibo, Mara, Padilla, Paez, and Miranda in Zulia State. Data obtained from the epidemiological observance and control departments in Zulia is reviewed, including a total of 11,072 cases of clinical, epidemiological diagnosis of Venezuelan equine encephalitis in a population of 574,769 inhabitants in the five municipalities mentioned. The incidence of contagion is 1.92%, and there is no significant difference between sexes. The age group most affected is children under 5 years old, in which half of the mortality occurred (8 cases). This included 2 newborn children whose mothers contracted the disease in the last three months of pregnancy.
    Keywords Encefalitis equina venezolana ; epizootias ; encefalomielitis ; Arctic medicine. Tropical medicine ; RC955-962 ; Public aspects of medicine ; RA1-1270
    Subject code 630
    Language Spanish
    Publishing date 2003-06-01T00:00:00Z
    Publisher Universidad de Zulia
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top