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Ania Koziell
Researcher at King's College London
Publications - 41
Citations - 2967
Ania Koziell is an academic researcher from King's College London. The author has contributed to research in topics: Nephrotic syndrome & Podocyte. The author has an hindex of 22, co-authored 36 publications receiving 2283 citations. Previous affiliations of Ania Koziell include University College London & UCL Institute of Child Health.
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Journal ArticleDOI
Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/−KTS Splice Isoforms
Barbara Klamt,Ania Koziell,Francis Poulat,Peter Wieacker,Peter J. Scambler,Philippe Berta,Manfred Gessler +6 more
TL;DR: A related disease, Frasier syndrome, characterized by focal glomerular sclerosis, delayed kidney failure and complete gonadal dysgenesis, is probably caused by specific intronic point mutations of WT1 that preferentially affect a CpG dinucleotide.
Journal ArticleDOI
Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro,William J. Astle,William J. Astle,Karyn Megy,Stefan Gräf,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini,Mattia Frontini,Mattia Frontini,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S. Burren,Kate Downes,Matthias Haimel,Salih Tuna,Deevi Svv.,Timothy J. Aitman,Timothy J. Aitman,David L.H. Bennett,David L.H. Bennett,P Calleja,Keren J. Carss,Mark J. Caulfield,Patrick F. Chinnery,Peter H. Dixon,Daniel P. Gale,Rachael H. James,Ania Koziell,Ania Koziell,Michael Laffan,Michael Laffan,Adam P. Levine,Eamonn R. Maher,Hugh S. Markus,Joannella Morales,Nicholas W. Morrell,Andrew D Mumford,Andrew D Mumford,Elizabeth Ormondroyd,S Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Roy Nba.,M A Saleem,M A Saleem,Smith Kgc.,Hannah Stark,Tan Ryy.,Andreas C. Themistocleous,Adrian J. Thrasher,Hugh Watkins,Andrew R. Webster,Andrew R. Webster,Martin R. Wilkins,Catherine Williamson,Catherine Williamson,James A. G. Whitworth,Sean Humphray,David R. Bentley,Nathalie Kingston,Neil Walker,John Bradley,Sofie Ashford,Christopher J. Penkett,Kathleen Freson,Kathleen Stirrups,F. Lucy Raymond,Willem H. Ouwehand +72 more
TL;DR: This study used whole-genome sequencing in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome, finding that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells.
Journal ArticleDOI
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
Ania Koziell,Victor Grech,Sagair Hussain,Gary Lee,Ulla Lenkkeri,Karl Tryggvason,Peter J. Scambler +6 more
TL;DR: These findings provide the first evidence for a functional inter-relationship between NPHS1 and NPHS2 in human nephrotic disease, thus underscoring their critical role in the regulation of glomerular filtration.
Journal ArticleDOI
The human glomerular podocyte is a novel target for insulin action.
Richard J M Coward,Gavin I. Welsh,Jing Yang,Candida Tasman,Rachel Lennon,Ania Koziell,Simon C. Satchell,Geoffrey D. Holman,Dontscho Kerjaschki,Jeremy M. Tavaré,Peter W Mathieson,Moin A. Saleem +11 more
TL;DR: Novel conditionally immortalized human podocytes in vitro and human glomeruli ex vivo are reported that the podocyte, the principal cell responsible for prevention of urinary protein loss, is insulin responsive and able to approximately double its glucose uptake within 15 min of insulin stimulation.
Journal ArticleDOI
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
Agnieszka Bierzynska,Hugh J. McCarthy,Katrina Soderquest,Ethan S Sen,Elizabeth Colby,Wen Y. Ding,Marwa M. Nabhan,Larissa Kerecuk,Shivram Hegde,David Hughes,Stephen D. Marks,Sally Feather,Caroline Jones,Nicholas J. A. Webb,Milos Ognjanovic,Martin Christian,Rodney D. Gilbert,Manish D. Sinha,Graham M. Lord,Michael A. Simpson,Ania Koziell,Gavin I. Welsh,Moin A. Saleem +22 more
TL;DR: Deep phenotyping combined with whole exome sequencing is an effective tool for early identification of SRNS etiology, yielding an evidence-based algorithm for clinical management.