Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Christine Gast"'
Autor:
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senio
Externí odkaz:
https://doaj.org/article/e0618627729740fcb92ea2c5b536e427
Autor:
Gary P. Leggatt, Eleanor G. Seaby, Kristin Veighey, Christine Gast, Rodney D. Gilbert, Sarah Ennis
Publikováno v:
Genes, Vol 14, Iss 8, p 1582 (2023)
With the increased availability of genomic sequencing technologies, the molecular bases for kidney diseases such as nephronophthisis and mitochondrially inherited and autosomal-dominant tubulointerstitial kidney diseases (ADTKD) has become increasing
Externí odkaz:
https://doaj.org/article/4d30d087d5764574ab48f68e17cd5794
Autor:
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Publikováno v:
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://doaj.org/article/8ab1799f3ce441279d9513d18436243b
Autor:
Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
Publikováno v:
BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic kidney diseases, ADT
Externí odkaz:
https://doaj.org/article/6d68b12c86d841aea2fe1b469fd86639
Publikováno v:
Clinical Kidney Journal. 16:192-194
Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney di
Autor:
Gary Leggatt, Rodney D. Gilbert, Kristin Veighey, Christine Gast, Sarah Ennis, Tahmina Rahman
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Hemizygous variants in chloride voltage-gated channel 5 (CLCN5) on chromosome Xp11.22 cause Dent disease type 1, characterised by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive
Autor:
Karl Lhotta, Peter J. Conlon, Daniel P. Gale, Victoria Robins, Miroslav Votruba, Kendrah Kidd, Céline Schaeffer, Dominik Steubl, Ying Maggie Chen, Catarina Silveira, Gianluca Caridi, Lauren Martin, Claudia Izzi, Antonio Amoroso, Eric Olinger, Jorge Reis Almeida, Stanislav Kmoch, Rita Raposeiro, Daniela Gianchino, Alena Vrbacká, Hannah C. Ainsworth, Martina Živná, Gian Marco Ghiggeri, Kateřina Hodaňová, Rosa J. Torres, Christine Gast, Joaquim Calado, Abbigail Taylor, Olivier Devuyst, Katherine A. Benson, Susan L. Murray, Cintia Fernandes de Souza, Eva Gombos, Emily Johnson, Francesco Scolari, Gianpiero L. Cavalleri, Petr Vylet'al, Jasmin Divers, Anthony J. Bleyer, Luca Rampoldi, Sofia C Jorge, Nelson Weller
Publikováno v:
Kidney International Reports, Vol. 5, no. 9, p. 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393
https://hdl.handle.net/2078.1/239393
Autor:
Eleanor G. Seaby, Martina Živná, Stanislav Kmoch, Kateřina Hodaňová, Christine Gast, Sara Campbell, Daniel P. Gale, David J. Bunyan, Sarah Ennis, Gopalakrishnan Venkat-Raman, Thomas M. Connor, Reuben J. Pengelly, Anthony M. Marinaki, Monica Arenas-Hernandez
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic kidney diseases, ADTKD and AD
Autor:
Eleanor G. Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman, Christine Gast, Sarah Ennis, Reuben J. Pengelly, David J. Bunyan, Matthew Lyon
Publikováno v:
Nephrology Dialysis Transplantation. 31:961-970
Background Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin bas
Publikováno v:
Pediatric nephrology (Berlin, Germany). 31(11)
Familial juvenile hyperuricaemic nephropathy (FJHN) is a diagnosis that is easily missed. It has taken a long time to clarify the pathophysiology and prevalence of this disease entity which has been shown to be genetically identical to medullary cyst