Regulating complement in the kidney: insights from CFHR5 nephropathy

por Gale, Daniel P., Pickering, Matthew C.
Publicado 2011

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

por Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy
Publicado 2022

End-stage renal failure associated with congenital deafness

por Annear, Nicholas M P, Gale, Daniel P, Loughlin, Sam, Dorkins, Huw R, Maxwell, Patrick H
Publicado 2008

Genetic testing can resolve diagnostic confusion in Alport syndrome

por Adam, Jennifer, Connor, Thomas M. F., Wood, Katrina, Lewis, David, Naik, Ramesh, Gale, Daniel P., Sayer, John A.
Publicado 2014

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

por Connor, Thomas M. F., Oygar, D. Deren, Gale, Daniel P., Steenkamp, Retha, Nitsch, Dorothea, Neild, Guy H., Maxwell, Patrick H.
Publicado 2013

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

por Chan, Melanie M. Y., Barnicoat, Angela, Mumtaz, Faiz, Aitchison, Michael, Side, Lucy, Brittain, Helen, Bates, Alan W. H., Gale, Daniel P.
Publicado 2017

Evidence for a Lack of a Direct Transcriptional Suppression of the Iron Regulatory Peptide Hepcidin by Hypoxia-Inducible Factors

por Volke, Melanie, Gale, Daniel P., Maegdefrau, Ulrike, Schley, Gunnar, Klanke, Bernd, Bosserhoff, Anja-Katrin, Maxwell, Patrick H., Eckardt, Kai-Uwe, Warnecke, Christina
Publicado 2009

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

por Levine, Adam P, Connor, Thomas M F, Oygar, D Deren, Neild, Guy H, Segal, Anthony W, Maxwell, Patrick H, Gale, Daniel P
Publicado 2015

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

por Gale, Daniel P., Oygar, D. Deren, Lin, Fujun, Oygar, P. Derin, Khan, Nadia, Connor, Thomas M.F., Lapsley, Marta, Maxwell, Patrick H., Neild, Guy H.
Publicado 2016

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

por 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
Publicado 2019

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

por 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.
Publicado 2015

IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank

por Sukcharoen, Kittiya, Sharp, Seth A., Thomas, Nicholas J., Kimmitt, Robert A., Harrison, Jamie, Bingham, Coralie, Mozere, Monika, Weedon, Michael N., Tyrrell, Jessica, Barratt, Jonathan, Gale, Daniel P., Oram, Richard A.
Publicado 2020

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

por 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
Publicado 2023

Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes

por 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
Publicado 2013

Kidney organoids recapitulate human basement membrane assembly in health and disease

por Morais, Mychel RPT, Tian, Pinyuan, Lawless, Craig, Murtuza-Baker, Syed, Hopkinson, Louise, Woods, Steven, Mironov, Aleksandr, Long, David A, Gale, Daniel P, Zorn, Telma MT, Kimber, Susan J, Zent, Roy, Lennon, Rachel
Publicado 2022

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

por 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.
Publicado 2018

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

por 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., Cerkauskaite, Agne, Savige, Judy
Publicado 2022

Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy

por Downie, Mallory L., Gupta, Sanjana, Tekman, Mehmet C., Cheshire, Chris, Arora, Steven, Licht, Christoph, Robinson, Lisa A., Munoz, Marina, Aris, Alvaro Madrid, Al Attrach, Ibrahim, Brenchley, Paul E., Gale, Daniel P., Stanescu, Horia, Bockenhauer, Detlef, Kleta, Robert
Publicado 2021

Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura

por Stubbs, Matthew J., Coppo, Paul, Cheshire, Chris, Veyradier, Agnès, Dufek, Stephanie, Levine, Adam P., Thomas, Mari, Patel, Vaksha, Connolly, John O., Hubank, Michael, Benhamou, Ygal, Galicier, Lionel, Poullin, Pascale, Kleta, Robert, Gale, Daniel P., Stanescu, Horia, Scully, Marie A.
Publicado 2021

The 2014 International Workshop on Alport Syndrome

por 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
Publicado 2014