Results 101 to 110 of about 6,344 (210)

SOX9-dependent fibrosis drives renal function in nephronophthisis

EMBO Molecular Medicine
Fibrosis is a key feature of a broad spectrum of cystic kidney diseases, especially autosomal recessive kidney disorders such as nephronophthisis (NPHP).
Maulin Mukeshchandra Patel, Vasileios Gerakopoulos, Bryan Lettenmaier, Eleni Petsouki, Kurt A Zimmerman, John A Sayer, Leonidas Tsiokas   +6 more
doaj   +1 more source

Poster Session 4

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Heliyon
The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and ...
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo   +7 more
doaj   +1 more source

Radiological features of Joubert syndrome and clinical case presentation

Radiology Case Reports
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD   +4 more
doaj   +1 more source

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]

, 2017
Bedford, Bender, Busse, Downs, Falconer, Gelatt, Gresky, Henderson, Mellersh, Mellersh, Mellersh, Mellersh, Mellersh, Miyadera, Miyadera, Muller, Muller, Muller, Muller, Müller, Palanova, Roberts, Ropstad, Ropstad, Stades, Turney, Wiik, Wiik, Zigler, Zigler   +29 more
core   +2 more sources

Nephritic-nephrotic syndrome as a presentation of BK virus infection

Saudi Journal of Kidney Diseases and Transplantation, 2011
BK virus (BKV) is increasingly found as an important cause of allograft nephro-pathy. Nephrotic syndrome is not a usual manifestation of BKV nephropathy.
Nima Derakhshan, Dorna Derakhshan, Simin Torabinejad, Ali Derakhshan   +3 more
doaj  

Nephronophthisis [PDF]

, 2020
openaire   +3 more sources

Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis

Molecular Medicine
Background Nephronophthisis (NPH) is classified under the category of renal ciliopathies and is the most common genetic disease leading to renal failure in children. Early-onset and progressive renal tubulointerstitial fibrosis represents one of the most
Dantong Li, Jinglan Zhang, Xinyu Su, Yichen Yang, Jiayong Lai, Xiaoya Wei, Huamu Chen, Yaqing Liu, Haiyan Wang, Liangzhong Sun   +9 more
doaj   +1 more source

Role of primary cilia in non-dividing and post-mitotic cells [PDF]

, 2017

core   +1 more source