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Naomi Issler
Researcher at University College London
Publications - 14
Citations - 512
Naomi Issler is an academic researcher from University College London. The author has contributed to research in topics: Genetic disorder & Kidney. The author has an hindex of 8, co-authored 11 publications receiving 345 citations. Previous affiliations of Naomi Issler include Great Ormond Street Hospital for Children NHS Foundation Trust & Great Ormond Street Hospital.
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Journal ArticleDOI
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Jingyuan Xie,Lili Liu,Nikol Mladkova,Yifu Li,Hong Ren,Weiming Wang,Zhao Cui,Zhao Cui,Li Lin,Xiaofan Hu,Xialian Yu,Jing Xu,Gang Liu,Gang Liu,Yasar Caliskan,Carlo Sidore,Olivia Balderes,Raphael J. Rosen,Monica Bodria,Monica Bodria,Francesca Zanoni,Francesca Zanoni,Jun Zhang,Priya Krithivasan,Karla Mehl,Maddalena Marasa,Atlas Khan,Fatih Ozay,Pietro A. Canetta,Andrew S. Bomback,Gerald B. Appel,Simone Sanna-Cherchi,Matthew G. Sampson,Laura H. Mariani,Agnieszka Perkowska-Ptasińska,Magdalena Durlik,Krzysztof Mucha,Krzysztof Mucha,Barbara Moszczuk,Bartosz Foroncewicz,Leszek Pączek,Leszek Pączek,Ireneusz Habura,Elisabet Ars,José Ballarín,Laila Yasmin Mani,Bruno Vogt,Savas Ozturk,Abdulmecit Yildiz,Nurhan Seyahi,Hakki Arikan,Mehmet Koc,Taner Basturk,Gonca E. Karahan,Sebahat Akgul,Mehmet Sukru Sever,Dan Zhang,Domenico Santoro,Mario Bonomini,Francesco Londrino,Loreto Gesualdo,Jana Reiterova,Vladimir Tesar,Claudia Izzi,Silvana Savoldi,Donatella Spotti,Carmelita Marcantoni,Piergiorgio Messa,Marco Galliani,Dario Roccatello,Simona Granata,Gianluigi Zaza,Francesca Lugani,Gian Marco Ghiggeri,Isabella Pisani,Landino Allegri,Ben Sprangers,Jin Ho Park,Belong Cho,Belong Cho,Yon Su Kim,Dong Ki Kim,Hitoshi Suzuki,Antonio Amoroso,Daniel C. Cattran,Fernando C. Fervenza,Antonello Pani,Patrick Hamilton,Shelly Harris,Sanjana Gupta,Chris Cheshire,Stephanie Dufek,Naomi Issler,Ruth J. Pepper,John O. Connolly,Stephen H. Powis,Detlef Bockenhauer,Horia Stanescu,Neil Ashman,Ruth J. F. Loos,Eimear E. Kenny,Eimear E. Kenny,Matthias Wuttke,Kai-Uwe Eckardt,Kai-Uwe Eckardt,Anna Köttgen,Julia M. Hofstra,Marieke J H Coenen,Lambertus A. Kiemeney,Shreeram Akilesh,Matthias Kretzler,Lawrence H. Beck,Bénédicte Stengel,Hanna Debiec,Pierre Ronco,Pierre Ronco,Jack F.M. Wetzels,Magdalena Zoledziewska,Francesco Cucca,Iuliana Ionita-Laza,Hajeong Lee,Elion Hoxha,Rolf A.K. Stahl,Paul Brenchley,Francesco Scolari,Ming hui Zhao,Ali G. Gharavi,Robert Kleta,Nan Chen,Krzysztof Kiryluk +129 more
TL;DR: The findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk.
Journal ArticleDOI
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Oscar Rubio Cabezas,Sarah E. Flanagan,Horia Stanescu,Elena García-Martínez,Richard Caswell,Hana Lango-Allen,Montserrat Antón-Gamero,Jesús Argente,Anna Marie Bussell,André W. Brändli,Chris Cheshire,Elizabeth Crowne,Simona Dumitriu,R. Drynda,Julian P Hamilton-Shield,Wesley Hayes,Alexis Hofherr,Daniela Iancu,Naomi Issler,Craig Jefferies,Peter B. Jones,Matthew B. Johnson,Anne Kesselheim,Enriko Klootwijk,Michael Koettgen,Wendy Lewis,José María Martos,Monika Mozere,Jill T. Norman,Vaksha Patel,Andrew Parrish,Celia Pérez-Cerdá,Jesús Pozo,Sofia A. Rahman,Neil J. Sebire,Neil J. Sebire,Mehmet Tekman,Peter D. Turnpenny,William van’t Hoff,Daan H H M Viering,Michael N. Weedon,Patricia D. Wilson,Lisa M. Guay-Woodford,Robert Kleta,Robert Kleta,Khalid Hussain,Khalid Hussain,Sian Ellard,Detlef Bockenhauer,Detlef Bockenhauer +49 more
TL;DR: It is proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM 2 leading to the restricted phenotype of HIPKD.
Journal ArticleDOI
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Graciana Jaureguiberry,Muriel De La Dure-Molla,David A. Parry,Mickael Quentric,Nina Himmerkus,Toshiyasu Koike,James A. Poulter,Enriko Klootwijk,Steven L. Robinette,Alexander J. Howie,Vaksha Patel,Marie Lucile Figueres,Horia Stanescu,Naomi Issler,Jeremy K. Nicholson,Detlef Bockenhauer,Chris Laing,Stephen B. Walsh,David A. McCredie,Sue Povey,Audrey Asselin,Arnaud Picard,Aurore Coulomb,Alan Medlar,Isabelle Bailleul-Forestier,Alain Verloes,Cédric Le Caignec,Gwenaelle Roussey,Julien Guiol,Bertrand Isidor,Clare V. Logan,Roger C. Shore,Colin A. Johnson,Chris F. Inglehearn,Suhaila Al-Bahlani,Matthieu Schmittbuhl,François Clauss,Mathilde Huckert,Virginie Laugel,Emmanuelle Ginglinger,Sandra Pajarola,Giuseppina Spartà,Deborah Bartholdi,Anita Rauch,Marie-Claude Addor,Paulo Marcio Yamaguti,H.P.N. Safatle,Ana Carolina Acevedo,Hercílio Martelli-Júnior,Pedro E. Dos Santos Netos,Ricardo D. Coletta,Sandra Gruessel,Carolin Sandmann,Denise Ruehmann,Craig B. Langman,Steven J. Scheinman,Didem Ozdemir-Ozenen,Thomas C. Hart,P. Suzanne Hart,Ute Neugebauer,Eberhard Schlatter,Pascal Houillier,William A. Gahl,Miikka Vikkula,Agnès Bloch-Zupan,Markus Bleich,Hiroshi Kitagawa,Robert J. Unwin,Alan J. Mighell,Ariane Berdal,Robert Kleta +70 more
TL;DR: This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta and it is speculated that all individuals with biallelic FAM 20A mutations will eventually show neph reciprocalcinosis.
Journal ArticleDOI
Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.
Naomi Issler,Naomi Issler,Stephanie Dufek,Stephanie Dufek,Robert Kleta,Robert Kleta,Detlef Bockenhauer,Detlef Bockenhauer,Naima Smeulders,Naima Smeulders,William van‘t Hoff,William van‘t Hoff +11 more
TL;DR: It is shown that in the majority of the patients there is an identifiable underlying metabolic and/or infective aetiology emphasizing the importance of a full work up to provide adequate treatment and prevent recurrence of kidney stones.
Journal ArticleDOI
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Markus Reichold,Enriko Klootwijk,Joerg Reinders,Edgar A. Otto,Mario Milani,Carsten Broeker,Chris Laing,Julia Wiesner,Sulochana Devi,Weibin Zhou,Roland Schmitt,Ines Tegtmeier,Christina Sterner,Hannes Doellerer,Kathrin Renner,Peter J. Oefner,Katja Dettmer,Johann M.B Simbuerger,Ralph Witzgall,Horia Stanescu,Simona Dumitriu,Daniela Iancu,Vaksha Patel,Monika Mozere,Mehmet Tekman,Graciana Jaureguiberry,Naomi Issler,Anne Kesselheim,Stephen B. Walsh,Daniel P. Gale,Alexander J. Howie,Joana Raquel Martins,Andrew M. Hall,Michael Kasgharian,Kevin O'Brien,Carlos Ferreira,Paldeep S. Atwal,Mahim Jain,Alexander Hammers,Geoffrey Charles-Edwards,Chi-Un Choe,Dirk Isbrandt,Alberto Cebrian-Serrano,Ben Davies,Richard Sandford,Christopher W. Pugh,David S. Konecki,Sue Povey,Detlef Bockenhauer,Uta Lichter-Konecki,William A. Gahl,Robert J. Unwin,Richard Warth,Robert Kleta +53 more
TL;DR: In this novel genetic disorder, fully penetrant heterozygous missense mutations in GATM trigger intramitochondrial fibrillary deposition of GATm and lead to elongated and abnormal mitochondria and speculate that this renal proximal tubular mitochondrial pathology initiates a response from the inflammasome, with subsequent development of kidney fibrosis.