Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "ubiquitin ligase"

Browsing Hospital das Clínicas da Faculdade de Medicina - HC by Subject "ubiquitin ligase"

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  • CALMON, Marilia Freitas; SICHERO, Laura; BOCCARDO, Enrique; VILLA, Luisa Lina; RAHAL, Paula (ACADEMIC PRESS INC ELSEVIER SCIENCE, SAN DIEGO, USA, 2016)
    Annexin 1 (ANXA1) is a substrate for E6AP mediated ubiquitylation. It has been hypothesized that HPV 16 E6 protein redirects E6AP away from ANXA1, increasing its stability and possibly contributing to viral pathogenesis. ...
  • QUAIO, C. R.; KODA, Y. K.; BERTOLA, D. R.; SUKALO, M.; ZENKER, M.; KIM, C. A. (FUNPEC-EDITORA, RIBEIRAO PRETO, BRAZIL, 2014)
    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine ...
  • SUKALO, Maja; FIEDLER, Ariane; GUZMAN, Celina; SPRANGER, Stephanie; ADDOR, Marie-Claude; MCHEIK, Jiad N.; BENAVENT, Manuel Oltra; COBBEN, Jan M.; GILLIS, Lynette A.; SHEALY, Amy G.; DESHPANDE, Charu; BOZORGMEHR, Bita; EVERMAN, David B.; STATTIN, Eva-Lena; LIEBELT, Jan; KELLER, Klaus-Michael; BERTOLA, Debora Romeo; KARNEBEEK, Clara D. M. van; BERGMANN, Carsten; LIU, Zhifeng; DUEKER, Gesche; REZAEI, Nima; ALKURAYA, Fowzan S.; OGUR, Gonul; ALRAJOUDI, Abdullah; VENEGAS-VEGA, Carlos A.; VERBEEK, Nienke E.; RICHMOND, Erick J.; KIRBIYIK, Ozgur; RANGANATH, Prajnya; SINGH, Ankur; GODBOLE, Koumudi; ALI, Fouad A. M.; ALVES, Cresio; MAYERLE, Julia; LERCH, Markus M.; WITT, Heiko; ZENKER, Martin (SOC ESPANOLA NEFROLOGIA DR RAFAEL MATESANZ, MADRID, SPAIN, 2014)
    Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp ...

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