Works matching AU Gale, Daniel P.

Results: 39

Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C→G.

Published in:

European Journal of Haematology, 2006, v. 76, n. 1, p. 75, doi. 10.1111/j.1600-0609.2005.00563.x

By:

Gale, Daniel P.;
Cobbold, Jeremy F.;
Chataway, Jeremy

Publication type:

Article

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.

Published in:

Clinical Science, 2019, v. 133, n. 1, p. 9, doi. 10.1042/CS20180676

By:

Fu-Jun Lin;
Lei Yao;
Xue-Qing Hu;
Fan Bian;
Gang Ji;
Geng-Ru Jiang;
Gale, Daniel P.;
Hong-Qi Ren

Publication type:

Article

Using genomics to understand severe COVID-19.

Published in:

Nephrology Dialysis Transplantation, 2024, v. 39, n. 5, p. 731, doi. 10.1093/ndt/gfad262

By:

Chan, Melanie M Y;
Gale, Daniel P

Publication type:

Article

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Published in:

Nephrology Dialysis Transplantation, 2016, v. 31, n. 11, p. 1908, doi. 10.1093/ndt/gfw051

By:

Gale, Daniel P.;
Oygar, D. Deren;
Fujun Lin;
Oygar, P. Derin;
Khan, Nadia;
Connor, Thomas M. F.;
Lapsley, Marta;
Maxwell, Patrick H.;
Neild, Guy H.

Publication type:

Article

C3 glomerulonephritis and CFHR5 nephropathy.

Published in:

Nephrology Dialysis Transplantation, 2013, v. 28, n. 2, p. 282, doi. 10.1093/ndt/gfs441

By:

Gale, Daniel P.;
Maxwell, Patrick H.

Publication type:

Article

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Published in:

2010

By:

Tanqi Lou;
Jun Zhang;
Gale, Daniel P.;
Rees, Andrew J.;
Rhodes, Ben;
Feehally, John;
Caixia Li;
Youji Li;
Ru Li;
Weijun Huang;
Bin Hu;
Leung, Joseph C. K.;
Lam, Man F.;
Lai, Kar N.;
Yiming Wang;
Maxwell, Patrick H.

Publication type:

Correction Notice

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Published in:

Nephrology Dialysis Transplantation, 2010, v. 25, n. 5, p. 1547, doi. 10.1093/ndt/gfp661

By:

Tanqi Lou;
Jun Zhang;
Gale, Daniel P.;
Rees, Andrew J.;
Rhodes, Ben;
Feehally, John;
Li, Caixia;
Youji Li;
Ru Li;
Weijun Huang;
Bin Hu;
Leung, Joseph C. K.;
Lam, Man F.;
Lai, Kar N.;
Yiming Wang;
Maxwell, Patrick H.

Publication type:

Article

Segregation analysis identifies specific alpha‐defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy.

Published in:

Annals of Human Genetics, 2023, v. 87, n. 1/2, p. 1, doi. 10.1111/ahg.12481

By:

Shwan, Nzar A. A.;
Moise, Eric C.;
Necsoiu, Paula E.;
Farr, Amy J.;
Gale, Daniel P.;
Barratt, Jonathan;
Armour, John A. L.

Publication type:

Article

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.

Published in:

Annals of Human Genetics, 2022, v. 86, n. 3, p. 145, doi. 10.1111/ahg.12454

By:

Mohamed, Maha;
Tellez, James;
Bergmann, Carsten;
Gale, Daniel P.;
Sayer, John A.;
Olinger, Eric

Publication type:

Article

Genetic loci influencing kidney function and chronic kidney disease.

Published in:

Nature Genetics, 2010, v. 42, n. 5, p. 373, doi. 10.1038/ng.566

By:

Chambers, John C.;
Weihua Zhang;
Lord, Graham M.;
van der Harst, Pim;
Lawlor, Debbie A.;
Sehmi, Joban S.;
Gale, Daniel P.;
Wass, Mark N.;
Ahmadi, Kourosh R.;
Bakker, Stephan J. L.;
Beckmann, Jacqui;
Bilo, Henk J. G.;
Bochud, Murielle;
Brown, Morris J.;
Caulfield, Mark J.;
Connell, John M. C.;
Cook, H. Terence;
Cotlarciuc, Ioana;
Smith, George Davey;
de Silva, Ranil

Publication type:

Article

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Published in:

2018

By:

Gast, Christine;
Marinaki, Anthony;
Arenas-Hernandez, Monica;
Campbell, Sara;
Seaby, Eleanor G.;
Pengelly, Reuben J.;
Gale, Daniel P.;
Connor, Thomas M.;
Bunyan, David J.;
Hodaňová, Kateřina;
Živná, Martina;
Kmoch, Stanislav;
Ennis, Sarah;
Venkat-Raman, G.

Publication type:

journal article

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 987, doi. 10.3390/ijms23020987

By:

Khalil, Youssef;
Carrino, Sara;
Lin, Fujun;
Ferlin, Anna;
Lad, Heena V.;
Mazzacuva, Francesca;
Falcone, Sara;
Rivers, Natalie;
Banks, Gareth;
Concas, Danilo;
Aguilar, Carlos;
Haynes, Andrew R.;
Blease, Andy;
Nicol, Thomas;
Al-Shawi, Raya;
Heywood, Wendy;
Potter, Paul;
Mills, Kevin;
Gale, Daniel P.;
Clayton, Peter T.

Publication type:

Article

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).

Published in:

2019

By:

Dudley, Jan;
Winyard, Paul;
Marlais, Matko;
Cuthell, Oliver;
Harris, Tess;
Chong, Jiehan;
Sayer, John;
Gale, Daniel P.;
Moore, Lucy;
Turner, Kay;
Burrows, Sarah;
Sandford, Richard

Publication type:

journal article

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174274

By:

Voskarides, Konstantinos;
Stefanou, Charalambos;
Pieri, Myrtani;
Demosthenous, Panayiota;
Felekkis, Kyriakos;
Arsali, Maria;
Athanasiou, Yiannis;
Xydakis, Dimitris;
Stylianou, Kostas;
Daphnis, Eugenios;
Goulielmos, Giorgos;
Loizou, Petros;
Savige, Judith;
Höhne, Martin;
Völker, Linus A.;
Benzing, Thomas;
Maxwell, Patrick H.;
Gale, Daniel P.;
Gorski, Mathias;
Böger, Carsten

Publication type:

Article

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Published in:

BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1360-4

By:

Levine, Adam P.;
Connor, Thomas M. F.;
Deren Oygar, D.;
Neild, Guy H.;
Segal, Anthony W.;
Maxwell, Patrick H.;
Gale, Daniel P.

Publication type:

Article

Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN Open Access.

Published in:

Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1091, doi. 10.1093/ndt/gfae265

By:

Torra, Roser;
Lipska-Zietkiewicz, Beata;
Acke, Frederic;
Antignac, Corinne;
Becker, Jan Ulrich;
Gall, Emilie Cornec-Le;
Eerde, Albertien M van;
Feltgen, Nicolas;
Ferrari, Rossella;
Gale, Daniel P;
Gear, Susie;
Gross, Oliver;
Haeberle, Stefanie;
Heidet, Laurence;
Lennon, Rachel;
Massella, Laura;
Pfau, Kristina;
Pizarro, Maria del Prado Venegas;
Topaloglu, Rezan;
Wlodkowski, Tanja

Publication type:

Article

Response to ‘Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease’.

Published in:

2009

By:

Ashby, Damien R.;
Gale, Daniel P.;
Busbridge, Mark;
Singh, Seema K.;
Maxwell, Patrick H.;
Choi, Peter

Publication type:

Letter

Response to ‘The utility of multivariate analysis in the study of hepcidin’.

Published in:

2009

By:

Ashby, Damien R;
Gale, Daniel P;
Busbridge, Mark;
Maxwell, Patrick H;
Choi, Peter

Publication type:

Letter

Response to ‘Hepcidin levels in patients with renal disease’.

Published in:

2009

By:

Ashby, Damien R.;
Gale, Daniel P.;
Busbridge, Mark;
Maxwell, Patrick H.;
Choi, Peter

Publication type:

Letter

Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease.

Published in:

Kidney International, 2009, v. 75, n. 9, p. 976, doi. 10.1038/ki.2009.21

By:

Ashby, Damien R.;
Gale, Daniel P.;
Busbridge, Mark;
Murphy, Kevin G.;
Duncan, Neill D.;
Cairns, Tom D.;
Taube, David H.;
Bloom, Stephen R.;
Tam, Frederick W. K.;
Chapman, Richard S.;
Maxwell, Patrick H.;
Choi, Peter

Publication type:

Article

The identification of CFHR5 nephropathy.

Published in:

Journal of the Royal Society of Medicine, 2011, v. 104, n. 5, p. 186, doi. 10.1258/jrsm.2011.11k013

By:

Gale, Daniel P.

Publication type:

Article

Inadvertent postdialysis anticoagulation due to heparin line locks.

Published in:

Hemodialysis International, 2007, v. 11, n. 4, p. 430, doi. 10.1111/j.1542-4758.2007.00213.x

By:

Pepper, Ruth J.;
Gale, Daniel P.;
Wajed, Julekha;
Bommayya, Girish;
Ashby, Damien;
McLean, Adam;
Laffan, Mike;
Maxwell, Patrick H.

Publication type:

Article

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 6, p. 1793, doi. 10.1007/s00467-022-05789-7

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.

Publication type:

Article

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Published in:

Pediatric Nephrology, 2019, v. 34, n. 7, p. 1175, doi. 10.1007/s00467-018-3985-4

By:

Savige, Judy;
Ariani, Francesca;
Mari, Francesca;
Bruttini, Mirella;
Renieri, Alessandra;
Gross, Oliver;
Deltas, Constantinos;
Flinter, Frances;
Ding, Jie;
Gale, Daniel P.;
Nagel, Mato;
Yau, Michael;
Shagam, Lev;
Torra, Roser;
Ars, Elisabet;
Hoefele, Julia;
Garosi, Guido;
Storey, Helen

Publication type:

Article

Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy.

Published in:

British Journal of Haematology, 2019, v. 186, n. 1, p. 113, doi. 10.1111/bjh.15899

By:

Neave, Lucy;
Gale, Daniel P.;
Cheesman, Simon;
Shah, Raakhee;
Scully, Marie

Publication type:

Article

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation.

Published in:

FASEB Journal, 2011, v. 25, n. 6, p. 2001, doi. 10.1096/fj.10-177378

By:

Formenti, Federico;
Beer, Philip A.;
Croft, Quentin P. P.;
Dorrington, Keith L.;
Gale, Daniel P.;
Lappin, Terence R. J.;
Lucas, Guy S.;
Maher, Eamonn R.;
Maxwell, Patrick H.;
McMullin, Mary F.;
O'Connor, David F.;
Percy, Melanie J.;
Pugh, Christopher W.;
Ratcliffe, Peter J.;
Smith, Thomas G.;
Talbot, Nick P.;
Robbins, Peter A.

Publication type:

Article

Kidney organoids recapitulate human basement membrane assembly in health and disease.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.73486

By:

Morais, Mychel R. P. T.;
Pinyuan Tian;
Lawless, Craig;
Murtuza-Baker, Syed;
Hopkinson, Louise;
Woods, Steven;
Mironov, Aleksandr;
Long, David A.;
Gale, Daniel P.;
Zorn, Telma M. T.;
Kimber, Susan J.;
Zent, Roy;
Lennon, Rachel

Publication type:

Article

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.

Published in:

Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01116

By:

Annear, Nicholas M. P.;
Appleton, Richard E.;
Bassi, Zahabiyah;
Bhatt, Rupesh;
Bolton, Patrick F.;
Crawford, Pamela;
Crowe, Alex;
Tossi, Maureen;
Elmslie, Frances;
Finlay, Eric;
Gale, Daniel P.;
Henderson, Alex;
Jones, Elizabeth A.;
Johnson, Simon R.;
Joss, Shelagh;
Kerecuk, Larissa;
Lipkin, Graham;
Morrison, Patrick J.;
O'Callaghan, Finbar J.;
Cadwgan, Jill

Publication type:

Article

Epistatic Role of the <i>MYH9/APOL1</i> Region on Familial Hematuria Genes.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057925

By:

Voskarides, Konstantinos;
Demosthenous, Panayiota;
Papazachariou, Louiza;
Arsali, Maria;
Athanasiou, Yiannis;
Zavros, Michalis;
Stylianou, Kostas;
Xydakis, Dimitris;
Daphnis, Eugenios;
Gale, Daniel P.;
Maxwell, Patrick H.;
Elia, Avraam;
Pattaro, Cristian;
Pierides, Alkis;
Deltas, Constantinos

Publication type:

Article

Incidence of End-Stage Renal Disease in the Turkish- Cypriot Population of Northern Cyprus: A Population Based Study.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054394

By:

Connor, Thomas M. F.;
Oygar, D. Deren;
Gale, Daniel P.;
Steenkamp, Retha;
Nitsch, Dorothea;
Neild, Guy H.;
Maxwell, Patrick H.

Publication type:

Article

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14928-x

By:

Gibson, Joel T.;
Sadeghi-Alavijeh, Omid;
Gale, Daniel P.;
Rothe, Hansjörg;
Genomics England Research Consortium;
Savige, Judy;
Ambrose, J. C.;
Arumugam, P.;
Baple, E. L.;
Bleda, M.;
Boardman-Pretty, F.;
Boissiere, J. M.;
Boustred, C. R.;
Brittain, H.;
Caulfield, M. J.;
Chan, G. C.;
Craig, C. E. H.;
Daugherty, L. C.;
de Burca, A.;
Devereau, A.

Publication type:

Article

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06525-9

By:

Gibson, Joel T.;
Huang, Mary;
Shenelli Croos Dabrera, Marina;
Shukla, Krushnam;
Rothe, Hansjörg;
Hilbert, Pascale;
Deltas, Constantinos;
Storey, Helen;
Lipska-Ziętkiewicz, Beata S.;
Chan, Melanie M. Y.;
Sadeghi-Alavijeh, Omid;
Gale, Daniel P.;
Genomics England Research Consortium;
Ambrose, J. C.;
Arumugam, P.;
Baple, E. L.;
Bleda, M.;
Boardman-Pretty, F.;
Boissiere, J. M.;
Boustred, C. R.

Publication type:

Article

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Published in:

Genes, 2023, v. 14, n. 9, p. 1686, doi. 10.3390/genes14091686

By:

Deltas, Constantinos;
Papagregoriou, Gregory;
Louka, Stavroula F.;
Malatras, Apostolos;
Flinter, Frances;
Gale, Daniel P.;
Gear, Susie;
Gross, Oliver;
Hoefele, Julia;
Lennon, Rachel;
Miner, Jeffrey H.;
Renieri, Alessandra;
Savige, Judy;
Turner, A. Neil

Publication type:

Article

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Published in:

PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006620

By:

Connor, Thomas M.;
Hoer, Simon;
Mallett, Andrew;
Gale, Daniel P.;
Gomez-Duran, Aurora;
Posse, Viktor;
Antrobus, Robin;
Moreno, Pablo;
Sciacovelli, Marco;
Frezza, Christian;
Duff, Jennifer;
Sheerin, Neil S.;
Sayer, John A.;
Ashcroft, Margaret;
Wiesener, Michael S.;
Hudson, Gavin;
Gustafsson, Claes M.;
Chinnery, Patrick F.;
Maxwell, Patrick H.

Publication type:

Article

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Published in:

Clinical Kidney Journal, 2015, v. 8, n. 1, p. 113, doi. 10.1093/ckj/sfu129

By:

Edwards, Noel;
Rice, Sarah J.;
Raman, Shreya;
Hynes, Ann Marie;
Srivastava, Shalabh;
Moore, Iain;
Al-Hamed, Mohamed;
Xu, Yaobo;
Santibanez-Koref, Mauro;
Thwaites, David T.;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 197, doi. 10.1093/ckj/sft144

By:

Adam, Jennifer;
Connor, Thomas M. F.;
Wood, Katrina;
Lewis, David;
Naik, Ramesh;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

The 2014 International Workshop on Alport Syndrome.

Published in:

Kidney International, 2014, v. 86, n. 4, p. 679, doi. 10.1038/ki.2014.229

By:

Miner, Jeffrey H;
Baigent, Colin;
Flinter, Frances;
Gross, Oliver;
Judge, Parminder;
Kashtan, Clifford E;
Lagas, Sharon;
Savige, Judith;
Blatt, Dave;
Ding, Jie;
Gale, Daniel P;
Midgley, Julian P;
Povey, Sue;
Prunotto, Marco;
Renault, Daniel;
Skelding, Jules;
Turner, A Neil;
Gear, Susie

Publication type:

Article

C3 glomerulopathy: consensus report.

Published in:

Kidney International, 2013, v. 84, n. 6, p. 1079, doi. 10.1038/ki.2013.377

By:

Pickering, Matthew C;
D'Agati, Vivette D;
Nester, Carla M;
Smith, Richard J;
Haas, Mark;
Appel, Gerald B;
Alpers, Charles E;
Bajema, Ingeborg M;
Bedrosian, Camille;
Braun, Michael;
Doyle, Mittie;
Fakhouri, Fadi;
Fervenza, Fernando C;
Fogo, Agnes B;
Frémeaux-Bacchi, Véronique;
Gale, Daniel P;
Goicoechea de Jorge, Elena;
Griffin, Gene;
Harris, Claire L;
Holers, V Michael

Publication type:

Article

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0436-1

By:

Chan, Melanie M. Y.;
Barnicoat, Angela;
Mumtaz, Faiz;
Aitchison, Michael;
Side, Lucy;
Brittain, Helen;
Bates, Alan W. H.;
Gale, Daniel P.

Publication type:

Article