Results 31 to 40 of about 6,803 (205)

The importance of clinician, patient and researcher collaborations in Alport syndrome [PDF]

, 2019
Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects.
Weinstock, André, Parziale, G, Judith Savige, Miner, JH, Randles, Michael, Rheault, MN, Susie Gear, Rheault, Michelle N., Frances A Flinter, Flinter, Frances A, Melissa Stepney, Gina Parziale, Jeffrey H Miner, Turner, A. Neil, Lagas, Sharon, Randles, MJ, Rheault, Michelle N, Oliver Gross, Rachel Lennon, Lennon, Rachel, Randles, Michael J, André Weinstock, Gross, O, Gear, Susie, Flinter, Frances A., Savige, J, Lagas, S, Sharon Lagas, Weinstock, A, Miner, Jeffrey H., A Neil Turner, Michelle N. Rheault, Gross, Oliver, Lennon, Rachel; id_orcid, Randles, Michael J., Turner, AN, Gear, S, Miner, Jeffrey H, Stepney, Melissa, Michael J. Randles, Parziale, Gina, Flinter, FA, Savige, Judith, Stepney, M, Turner, Neil, Turner, A Neil, Lennon, R   +46 more
core   +1 more source

Bilateral spontaneous anterior lens capsule ruptures in a child: A rare presentation of Alport syndrome

American Journal of Ophthalmology Case Reports, 2020
Purpose: This report describes the rare case of a child with bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome. Observations: The clinical presentation, special investigations and surgical management of the
Dian Petrus van der Westhuizen, Kelsey Vernon Stuart   +1 more
doaj   +1 more source

Effect of Social-Platform Instructional Guidelines on Pediatric Mothers'Knowledge and Anxiety regarding Alport Syndrome [PDF]

Egyptian Journal of Health Care
Background: Alport syndrome is a hereditary kidney disease that gradually deteriorates kidney function and frequently leads to renal failure. A multitude of detrimental effects, such as mothers becoming more concerned and anxious about their children's ...
Boshra Attia Mohammed, Azza Ibrahim Abdelraof, Manal Mohamed Ahmed Ayed, Amira Mohammed Saad Khalil, Nesma Ahmed Kamel, Samya Mohamed Ahmed Hegazy   +5 more
doaj   +1 more source

Shining a Light on Alport Syndrome [PDF]

Cell Chemical Biology, 2018
In this issue of Cell Chemical Biology, Omachi et al. (2018) present a split Nanoluciferase system to identify successful protein trimerization in Alport syndrome. This elegant proof of concept suggests opportunities for drug screening for Alport syndrome and may be transferable to the study of other diseases affecting protein-protein interactions.
Hale, Lorna J., Little, Melissa H.
openaire   +4 more sources

Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease

Renal Failure, 2017
Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane.
Yvelynne P. Kelly, Anish Patil, Luke Wallis, Susan Murray, Saumitra Kant, Mohammed A. Kaballo, Liam Casserly, Brendan Doyle, Anthony Dorman, Patrick O’Kelly, Peter J. Conlon   +10 more
doaj   +1 more source

Missing Internal Limiting Membrane during Macular Hole Repair in Alport Syndrome

Case Reports in Ophthalmology, 2021
The aim of this manuscript is to describe a novel retinal finding of Alport syndrome during surgical management of an associated macular hole. A retrospective chart review of a 65-year-old man with a diagnosis of Alport syndrome confirmed by renal biopsy
Sarah G. Chaudhry, Gerald Liew, Adrian T. Fung   +2 more
doaj   +1 more source

Clinical trial recommendations for potential Alport syndrome therapies

, 2020
Alport syndrome is experiencing a remarkable increase in preclinical investigations. To proactively address the needs of the Alport syndrome community, as well as offer clarity for future clinical research sponsors, the Alport Syndrome Foundation hosted ...
Dunleavy, Marty, Lieberman, Kenneth, Rheault, Michelle N., Manuel, Raymond, Appel, Gerald, Morgenstern, Bruce, Hariri, Ali, Reed, Janine, Lagas, Sharon, Cook, Heather, Meyer, Colin, Simon, James F., Bonebrake, Lisa, Gear, Susie, Simon, James, Mercer, Alex, Weinstock, B. André, Tang, Winson, Miner, Jeffrey H., Rheault, Michelle, Lennon, Rachel; id_orcid, Miner, Jeffrey, Jarad, George, Feldman, David, Nozu, Kandai, Nakanishi, Koichi, Parziale, Gina, Binaso, Kristen, Weinstock, André, Kashtan, Clifford E., Prunotto, Marco, Markels, Michael, Blank, Melanie, Dahan, Karin, Torra, Roser, Ricardo, Sharon, Goldsberry, Angela, Melia, Lisa Anne, Kumnick, Phil, Kashtan, Clifford, Fornoni, Alessia, Perin, Laura, Barua, Moumita, Feldman, David L., Desacco, Stephano, Pariser, Anne, Thompson, Aliza, Gross, Oliver, Komers, Radko, Chin, Melanie, Baigent, Colin, Licht, Christoph, Modur, Vijay, Kai, Hirofumi, Turner, Neil   +54 more
core   +2 more sources

Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome

Frontiers in Genetics, 2021
BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities.
Wei-Hui Shi, Wei-Hui Shi, Mu-Jin Ye, Mu-Jin Ye, Song-Chang Chen, Song-Chang Chen, Jun-Yu Zhang, Jun-Yu Zhang, Yi-Yao Chen, Yi-Yao Chen, Zhi-Yang Zhou, Zhi-Yang Zhou, Ning-Xin Qin, Ning-Xin Qin, Xuan-You Zhou, Xuan-You Zhou, Nai-Xin Xu, Nai-Xin Xu, Zi-Ru Jiang, Zi-Ru Jiang, Jing Lin, Jing Lin, He-Feng Huang, He-Feng Huang, Chen-Ming Xu, Chen-Ming Xu   +25 more
doaj   +1 more source

Women and Alport syndrome [PDF]

Pediatric Nephrology, 2011
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males.
openaire   +2 more sources

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

Iranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources