Search Results - "Koziell, Ania B."

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management by Bierzynska, Agnieszka, McCarthy, Hugh J, Soderquest, Katrina, Sen, Ethan S, Colby, Elizabeth, Ding, Wen Y, Nabhan, Marwa M, Kerecuk, Larissa, Hegde, Shivram, Hughes, David, Marks, Stephen, Feather, Sally, Jones, Caroline, Webb, Nicholas J A, Ognjanovic, Milos, Christian, Martin, Gilbert, Rodney D, Sinha, Manish D, Lord, Graham M, Simpson, Michael, Koziell, Ania B, Welsh, Gavin I, Saleem, Moin A

“…Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected…”
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MAGI2 Mutations Cause Congenital Nephrotic Syndrome by Bierzynska, Agnieszka, Soderquest, Katrina, Dean, Philip, Colby, Elizabeth, Rollason, Ruth, Jones, Caroline, Inward, Carol D, McCarthy, Hugh J, Simpson, Michael A, Lord, Graham M, Williams, Maggie, Welsh, Gavin I, Koziell, Ania B, Saleem, Moin A

“…Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular…”
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Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome by Mason, Anna E, Sen, Ethan S, Bierzynska, Agnieszka, Colby, Elizabeth, Afzal, Maryam, Dorval, Guillaume, Koziell, Ania B, Williams, Maggie, Boyer, Olivia, Welsh, Gavin I, Saleem, Moin A

“…Intensified immunosuppression in steroid-resistant nephrotic syndrome is broadly applied, with disparate outcomes. This review of patients from the United…”
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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model by Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.

“…Background Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome…”
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Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome by Downie, Mallory L., Gupta, Sanjana, Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Cao, Jingjing, Parekh, Rulan S., Diz, Carmen Bugarin, Bierzynska, Agnieszka, Levine, Adam P., Pepper, Ruth J., Stanescu, Horia, Saleem, Moin A., Kleta, Robert, Bockenhauer, Detlef, Koziell, Ania B., Gale, Daniel P.

“…Background Idiop athic nephrotic syndrome (INS) is classified in children according to response to initial corticosteroid therapy into steroid-sensitive (SSNS)…”
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NURTuRE-INS: A Biobank of United Kingdom Idiopathic Nephrotic Syndrome Patients to Enable Research and Disease Stratification: FR-PO639 by Colby, Liz, Benavente, Melissa, Taal, Maarten W., Davies, Elaine M., Nation, Michael L., Johnson, Tim S., Hale, Lorna J., Andag, Uwe, Skroblin, Philipp, Unwin, Robert J., Koziell, Ania B., Welsh, Gavin I., Saleem, Moin

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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis by Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O’Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D’Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone

“…Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney…”
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Vincristine and focal segmental sclerosis : do we need a multicentre trial? by GOONASEKERA, C. D. A, KOZIELL, A. B, HULTON, S. A, DILLON, M. J

“…Over the last 10 years, eight children have received vincristine for the treatment of steroid- and cyclophosphamide-resistant nephrotic syndrome at Great…”
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SP003EXOME SEQUENCING REVEALS GENETIC HETEROGENEITY OF NEPHROTIC SYNDROME by Bierzynska, Agnieszka, Soderquest, Katrina, McCarthy, Hugh J, Sen, Ethan, Colby, Elizabeth, Simpson, Michael, Welsh, Gavin I, Koziell, Ania B, Saleem, Moin A

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