Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Galina Nesterova"'
Autor:
Jason R. McFadden, Christina Deanne P. Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A. Gahl, Dan L. Sackett, May Christine V. Malicdan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100990- (2023)
Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g., TUBB4B, which encodes the β-4B tubulin isotype) are responsible for a
Externí odkaz:
https://doaj.org/article/07f1ec8a628249ae8a4324753ada98a7
Autor:
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu
Publikováno v:
Cells, Vol 11, Iss 7, p 1109 (2022)
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. Howev
Externí odkaz:
https://doaj.org/article/5bf2274ef7f74bd9b5fdec43ba965123
Autor:
Rachel I Gafni, William A. Gahl, Macarena Jiménez, Harald Jüppner, Myles Wolf, Galina Nesterova, Barbara Gales, Luis F de Castro, Michael T. Collins, Isidro B. Salusky, Mary Scott Roberts, Pablo Florenzano, Carlos Ferreira, Sri Harsha Tella, Katherine Wesseling-Perry, Daniela Markovich
Publikováno v:
J Am Soc Nephrol
Background The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::643da272b50f746658035fafa1d30036
https://doi.org/10.1681/asn.2019111172
https://doi.org/10.1681/asn.2019111172
Publikováno v:
Processes in GeoMedia—Volume V ISBN: 9783030858506
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a50b940187c39e533c029985313cb5a1
https://doi.org/10.1007/978-3-030-85851-3_7
https://doi.org/10.1007/978-3-030-85851-3_7
Autor:
Erik Harms, Susanne Bechtold, Nadine Herzig, Malcolm Lewis, Justine Bacchetta, William A. Gahl, Alexey Tsygin, Ewa Elenberg, Fernando Santos, Oliver Greil, Noelle Cassidy, Karl P. Schlingmann, Neveen A. Soliman, Atif Awan, Gema Ariceta, Frank Rauch, Dieter Haffner, Elena Levtchenko, Aude Servais, Jozef Zustin, Bernd Hoppe, Rezan Topaloglu, Galina Nesterova, Koenraad Veys, Carsten Bergmann, Ulrike Treikauskas, Christian Koeppl, Geroges Deschenes, Katharina Hohenfellner, Clodagh Sweeney, Guenther Steidle, Rodo O. von Vigier
Publikováno v:
Journal of Inherited Metabolic Disease
Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c24db0ff1f1e1c5291d9fb8fc4ad9d
https://doi.org/10.1002/jimd.12134
https://doi.org/10.1002/jimd.12134
Autor:
Michael T. Collins, Galina Nesterova, Sydney M Brown, Carlos Ferreira, Sri Harsha Tella, Adom Whitaker, Renata C. Pereira, William A. Gahl, Luis F de Castro, Pablo Florenzano, Dorothy I. Bulas, Isidro B. Salusky, Mary Scott Roberts, Rachel I Gafni
Publikováno v:
Journal of Bone and Mineral Research. 33:1870-1880
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f4a8e05b5f08ba4d7389db6b7a256c1
https://doi.org/10.1002/jbmr.3522
https://doi.org/10.1002/jbmr.3522
Autor:
Pablo, Florenzano, Carlos, Ferreira, Galina, Nesterova, Mary Scott, Roberts, Sri Harsha, Tella, Luis Fernandez, de Castro, Sydney M, Brown, Adom, Whitaker, Renata C, Pereira, Dorothy, Bulas, Rachel I, Gafni, Isidro B, Salusky, William A, Gahl, Michael T, Collins
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 33(10)
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the fre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dd99303bc943487ccf358b12c72da198
https://pubmed.ncbi.nlm.nih.gov/29905968
https://pubmed.ncbi.nlm.nih.gov/29905968
Publikováno v:
Pediatric Nephrology. 30:945-951
Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age. Therapy with the cystine-depleting agent cysteamine postpones ren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454be8f04eea15d2da915d002d0f9fbd
https://doi.org/10.1007/s00467-014-3018-x
https://doi.org/10.1007/s00467-014-3018-x
Autor:
Rezan Topaloglu, Monte Del Monte, Lambertus P. van den Heuvel, Thomas D. Brown, Victor Gomez, Marcella Greco, Galina Nesterova, Aude Servais, Mirian C. H. Janssen, Julian P. Midgley, Marjolein Bos, Patrick Niaudet, Jerry A. Schneider, William van’t Hoff, Paul Goodyer, Francesco Emma, Leticia Belmont-Martínez, Larry A. Greenbaum, Aurélia Bertholet-Thomas, Georges Deschênes, Maria Helena Vaisbich, Philip Newsholme, Doris A. Trauner, Jess G. Thoene, Patrice Rioux, Paul C. Grimm, Frederick J. Kaskel, Bruce A. Barshop, Graham Lipkin, Valerie Hotz, Oliver Amon, Christy Greeley, Neveen A. Soliman, Elena Levtchenko, Chris Ottolenghi, Maya Doyle, Jie Ding, Stephanie Cherqui, William A. Gahl, Minnie M. Sarwal, Maryan Basurto, Gema Ariceta, Katharina Hohenfellner, Elisabeth A.M. Cornelissen, Ranjan Dohil, Ewa Elenberg, Craig B. Langman, Teresa Holm, Rita Magriço
Publikováno v:
Kidney International. Supplement, 89, 6, pp. 1192-203
Kidney International. Supplement, 89, 1192-203
Kidney International. Supplement, 89, 1192-203
Item does not contain fulltext Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::635546248ea09931552c6117da8853cf
https://hdl.handle.net/2066/172214
https://hdl.handle.net/2066/172214
Autor:
Francesco Emma, Frederick J. Kaskel, Pierre Cochat, Aude Servais, Elke Wühl, Ranjan Dohil, Corinne Antignac, Stephanie Cherqui, Patrick Niaudet, William A. Gahl, Rezan Topaloglu, Craig B. Langman, Antoine Labbé, Doris A. Trauner, Mirian C. H. Janssen, Marcella Greco, William van’t Hoff, Galina Nesterova, Elena Levtchenko, Ewa Elenberg, Paul Goodyer
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, vol 29 Suppl 4, iss suppl 4
Nephrology, Dialysis, Transplantation, 29, iv87-iv94
Nephrology, Dialysis, Transplantation, 29, suppl 4, pp. iv87-iv94
Emma, F; Nesterova, G; Langman, C; Labbé, A; Cherqui, S; Goodyer, P; et al.(2014). Nephropathic cystinosis: An international consensus document. Nephrology Dialysis Transplantation, 29, iv87-iv94. doi: 10.1093/ndt/gfu090. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/0dv4v0nt
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, vol 29 Suppl 4, iss Suppl 4
Nephrology, Dialysis, Transplantation, 29, iv87-iv94
Nephrology, Dialysis, Transplantation, 29, suppl 4, pp. iv87-iv94
Emma, F; Nesterova, G; Langman, C; Labbé, A; Cherqui, S; Goodyer, P; et al.(2014). Nephropathic cystinosis: An international consensus document. Nephrology Dialysis Transplantation, 29, iv87-iv94. doi: 10.1093/ndt/gfu090. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/0dv4v0nt
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, vol 29 Suppl 4, iss Suppl 4
Contains fulltext : 136370.pdf (Publisher’s version ) (Closed access) Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb9b8a2fc34cc3a60a6961eba4c003d
https://escholarship.org/uc/item/0dv4v0nt
https://escholarship.org/uc/item/0dv4v0nt