Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Pavithra M. Rallapalli"'
Autor:
Christopher A. Ludlam, John H. McVey, Pavithra M. Rallapalli, Keith Gomez, Geoffrey Kemball-Cook, Daniel J. Hampshire, Muriel Giansily-Blaizot, Stephen J. Perkins
Publikováno v:
Haemophilia
Haemophilia, Wiley, 2020, 26 (2), pp.306-313. ⟨10.1111/hae.13947⟩
Haemophilia, Wiley, 2020, 26 (2), pp.306-313. ⟨10.1111/hae.13947⟩
Haemophilia published by John Wiley & Sons Ltd Introduction: Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes and access to curated data inco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d2c037ab5c144d042a2b4c2c743df2f
https://doi.org/10.1111/hae.13947
https://doi.org/10.1111/hae.13947
Autor:
Christopher A. Ludlam, Muriel Giansily-Blaizot, Stephen J. Perkins, John H. McVey, Geoffrey Kemball-Cook, Daniel J. Hampshire, Keith Gomez, Pavithra M. Rallapalli
Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7). Integration of genetic variation with functional consequences on protein function is ess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::494048012446e2d967b2f975796488ec
https://surrey.eprints-hosting.org/856957/
https://surrey.eprints-hosting.org/856957/
Autor:
Timothy H.J. Goodship, Paula Vieira-Martins, Marina Noris, Richard J.H. Smith, Nicolò Borsa, Angela Ruiz, Fengxiao Bu, Véronique Frémeaux-Bacchi, Santiago Rodríguez de Córdoba, Stephen J. Perkins, Lambertus P. van den Heuvel, David J. Kavanagh, Amy J. Osborne, Daniel P. Gale, Valerie Wilson, Elena B. Volokhina, Sheila Pinto, Matteo Breno, Giuseppe Remuzzi, Pavithra M. Rallapalli
Publikováno v:
Journal of Immunology, 200, 2464-2478
Journal of Immunology, 200, 7, pp. 2464-2478
Journal of Immunology, 200, 7, pp. 2464-2478
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with dysregulation and overactivation of the complement alternative pathway. Typically, gene analysis for aHUS and C3G is undertaken in small patient numbers, yet it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b89f9c9f57942bcd45402010cd77809
https://doi.org/10.4049/jimmunol.1701695
https://doi.org/10.4049/jimmunol.1701695
Publikováno v:
Bioscience Reports, Vol 34, Iss 5, p e00146 (2014)
aHUS (atypical haemolytic uraemic syndrome), AMD (age-related macular degeneration) and other diseases are associated with defective AP (alternative pathway) regulation. CFH (complement factor H), CFI (complement factor I), MCP (membrane cofactor pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::0abf33942e263d5e0b4ff40615f1ae1b
http://www.bioscirep.org/bsr/034/e146/bsr034e146.htm
http://www.bioscirep.org/bsr/034/e146/bsr034e146.htm
Publikováno v:
Bioscience Reports
aHUS (atypical haemolytic uraemic syndrome), AMD (age-related macular degeneration) and other diseases are associated with defective AP (alternative pathway) regulation. CFH (complement factor H), CFI (complement factor I), MCP (membrane cofactor pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b85f79bcdb8751a8075d9c906916e95d
https://pubmed.ncbi.nlm.nih.gov/25188723
https://pubmed.ncbi.nlm.nih.gov/25188723
Publikováno v:
Molecular Biology and Evolution
Blood coagulation occurs through a cascade of enzymes and cofactors that produces a fibrin clot, while otherwise maintaining hemostasis. The 11 human coagulation factors (FG, FII–FXIII) have been identified across all vertebrates, suggesting that t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d14f89f6d14e727babb0728ce76fa6f2
http://mbe.oxfordjournals.org/content/early/2014/08/25/molbev.msu248
http://mbe.oxfordjournals.org/content/early/2014/08/25/molbev.msu248
Autor:
Pavithra M. Rallapalli, Geoffrey Kemball-Cook, Edward G. D. Tuddenham, Keith Gomez, Stephen J. Perkins
Publikováno v:
Journal of thrombosis and haemostasis : JTH. 11(7)
SummaryBackground Factor IX (FIX) is important in the coagulation cascade, being activated to FIXa on cleavage. Defects in the human F9 gene frequently lead to hemophilia B. Objective To assess 1113 unique F9 mutations corresponding to 3721 patient e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ee574b0aae3b1ae498f23bf7609454
https://pubmed.ncbi.nlm.nih.gov/23617593
https://pubmed.ncbi.nlm.nih.gov/23617593