Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Gus Khursigara"'
Publikováno v:
PLoS ONE, Vol 17, Iss 7 (2022)
The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficienc
Externí odkaz:
https://doaj.org/article/83246a3dfa77478f86e62468d6202fc1
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100937- (2021)
Externí odkaz:
https://doaj.org/article/75b5df6af6094f86b74dd378a2d89f1b
Autor:
Yvonne Nitschke, Kristina Kintzinger, Mary Hackbarth, Ulrike Botschen, Sisi Wang, Rachel Gafni, Kerstin Mueller, Gus Khursigara, William Gahl, Frank Rutsch, Carlos Ferreira
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100704- (2020)
Externí odkaz:
https://doaj.org/article/5f46dd15912e4ecea4519e09f775f289
Autor:
Hubert Schrezenmeier, Petra Muus, Gérard Socié, Jeffrey Szer, Alvaro Urbano-Ispizua, Jaroslaw P. Maciejewski, Robert A. Brodsky, Monica Bessler, Yuzuru Kanakura, Wendell Rosse, Gus Khursigara, Camille Bedrosian, Peter Hillmen
Publikováno v:
Haematologica, Vol 99, Iss 5 (2014)
Paroxysmal nocturnal hemoglobinuria is a rare, acquired disease associated with hemolytic anemia, bone marrow failure, thrombosis, and, frequently, poor quality of life. The International PNH Registry is a worldwide, observational, non-interventional
Externí odkaz:
https://doaj.org/article/9283c238635a4e22a22ca4e601534f12
Autor:
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Publikováno v:
Human mutationREFERENCES. 43(12)
Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7562db3da8218f3535f90e712adbf4d7
https://pubmed.ncbi.nlm.nih.gov/36150100
https://pubmed.ncbi.nlm.nih.gov/36150100
Publikováno v:
Bone. 171:116750
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f200d86567bb847930cc2e2fa1093f4
https://doi.org/10.1016/j.bone.2023.116750
https://doi.org/10.1016/j.bone.2023.116750
Autor:
Rachel I Gafni, Eric Yuen, Dirk Schnabel, M Zulf Mughal, Kristina Kintzinger, Carlos Ferreira, Qing Liu, Mary E. Hackbarth, Geneviève Baujat, Gus Khursigara, Pedro Huertas, Ulrike Botschen, Yvonne Nitschke, Frank Rutsch, William A. Gahl
Publikováno v:
Journal of Bone and Mineral Research. 36:2193-2202
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff7b3df893a6427f482e402fb8fe89a
https://doi.org/10.1002/jbmr.4418
https://doi.org/10.1002/jbmr.4418
Autor:
Carlos R. Ferreira, Anenya Jai Ansh, Catherine Nester, Christine O'Brien, Paul R. Stabach, Sae‐Il Murtada, Ethan R. Lester, Gus Khursigara, Liz Molloy, Thomas O. Carpenter, Demetrios T. Braddock
Publikováno v:
J Bone Miner Res
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency leads to cardiovascular calcification in infancy, fibroblast growth factor 23 (FGF23)-mediated hypophosphatemic rickets in childhood, and osteomalacia in adulthood. Excessive enthe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::915895cdf3fb5b3666871ff5c9dead5c
https://pubmed.ncbi.nlm.nih.gov/34882836
https://pubmed.ncbi.nlm.nih.gov/34882836
Autor:
null Carlos R. Ferreira, null Jain Ansh, null Catherine Nester, null Christine O'Brien, null Paul Stabach, null Sae‐Il Murtada, null Ethan R. Lester, null Gus Khursigara, null Liz Molloy, null Thomas O. Carpenter, null Demetrios T. Braddock
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f9ec9df95649d218401919252f091fb
https://doi.org/10.1002/jbmr.4487/v2/response1
https://doi.org/10.1002/jbmr.4487/v2/response1
Publikováno v:
PloS one. 17(7)
The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a73ae4fb779ec4be408d95544bd2ab
https://pubmed.ncbi.nlm.nih.gov/35895733
https://pubmed.ncbi.nlm.nih.gov/35895733