Identification and computionally-based structural interpretation of naturally occuring variants of human protein C (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Identification and computionally-based structural interpretation of naturally occuring variants of human protein C (Articolo in rivista) (literal)

Anno

• 2007-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1002/humu.20445 (literal)

Alternative label

• Ermanna Rovida 1, Giuliana Merati 2, Pasqualina D'Ursi 3, Sara Zanardelli 2, Francesca Marino 1, Gessica Fontana 4, GiancarloCastaman 5, Elena M. Faioni 4 (2007)
  Identification and computionally-based structural interpretation of naturally occuring variants of human protein C
  in Human mutation
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Ermanna Rovida 1, Giuliana Merati 2, Pasqualina D'Ursi 3, Sara Zanardelli 2, Francesca Marino 1, Gessica Fontana 4, GiancarloCastaman 5, Elena M. Faioni 4 (literal)

Pagina inizio

• 345 (literal)

Pagina fine

• 355 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 28 (literal)

Rivista

• Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 10 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Institute of Biomedical Technologies-National Research Council, Segrate, Milano, Italy; 2 Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Policlinico and Regina Elena Foundation, University of Milano, Milano, Italy; 3 Department of Biomedical Science and Technology-University of Milano, Milano, Italy; 4 Hematology and Thrombosis Unit, University of Milano, and San Paolo Hospital, Milano, Italy; 5 Hematology Unit, San Bortolo Hospital, Vicenza, Ita (literal)

Titolo

• Identification and computionally-based structural interpretation of naturally occuring variants of human protein C (literal)

Abstract

• Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologic interactions and functions, and its modular structure, natural variants aid in the understanding of the relationship between critical residues and discrete functions. This knowledge has important therapeutic implications in the planning of a recombinant activated PC with a specific therapeutic target and devoid of major collateral effects. A way of predicting important functional consequences of residue variation is the use of molecular modeling and structural interpretation of amino acidic substitutions. A study of 21 out of 32 identified PC gene (PROC) variants is presented. For three of them, localized in the active site, electrostatic potential variation was calculated. For more than half of the studied variants, an explanation for the functional impairment could be derived from computational analysis, allowing a focused choice of which variants it is worthwhile pursuing. (literal)

Prodotto di

• Bioinformatica in Biomedicina (ME.P06.027.001) (Modulo)

Autore CNR

• ERMANNA ROVIDA (Unità di personale interno)
• PASQUALINA D'URSI (Unità di personale esterno)

Insieme di parole chiave

• Parole chiave di "Identification and computionally-based structural interpretation of naturally occuring variants of human protein C" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• ERMANNA ROVIDA (Unità di personale interno)
• PASQUALINA D'URSI (Unità di personale esterno)

Prodotto

• Bioinformatica in Biomedicina (ME.P06.027.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human mutation (Rivista)

Insieme di parole chiave di

• Parole chiave di "Identification and computionally-based structural interpretation of naturally occuring variants of human protein C" (Insieme di parole chiave)