Results 21 to 30 of about 8,333 (256)

Agonists of prostaglandin E ₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Proceedings of the National Academy of Sciences of the United States of America, 2022
Significance Juvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available.
Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa‐Traoré, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier   +28 more
openalex   +3 more sources

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis [PDF]

bioRxiv
Alice Tata, Gustavo Rocha, Marguerite Hureaux, Alice Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean‐Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 more
openalex   +2 more sources

Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis [PDF]

International Journal of Molecular Sciences, 2023
Nephronophthisis (NPHP) is the most prevalent monogenic disease leading to end-stage renal failure in childhood. RhoA activation is involved in NPHP pathogenesis. This study explored the role of the RhoA activator guanine nucleotide exchange factor (GEF)-
Qiulei Hu, Jiayong Lai, Huamu Chen, Yong Cai, Zhihui Yue, Hongrong Lin, Liangzhong Sun   +6 more
openalex   +2 more sources

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

Heliyon, 2023
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   +2 more sources

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report. [PDF]

Kidney Med
Sawada Y, Sekine A, Oba Y, Yamanouchi M, Suwabe T, Kono K, Kinowaki K, Ohashi K, Yamaguchi Y, Fujimaru T, Mori T, Sohara E, Uchida S, Wada T, Sawa N, Ubara Y.   +15 more
europepmc   +3 more sources

Targeting GLP-1 Signaling Ameliorates Cystogenesis in a Zebrafish Model of Nephronophthisis. [PDF]

Int J Mol Sci
Nephronophthisis (NPH) is the leading genetic cause of end-stage renal disease in children and young adults, but no effective disease-modifying therapies are currently available.
Eckert P, Nöller M, Müller M, Haas R, Ruf J, Franz H, Moos K, Yu JA, Zhao D, Xie W, Boerries M, Walz G, Yakulov TA.   +12 more
europepmc   +2 more sources

Juvenile nephropathy resembling human nephronophthisis-medullary cystic kidney disease in a 9-month-old domestic shorthaired cat. [PDF]

J Small Anim Pract
Journal of Small Animal Practice, Volume 66, Issue 9, Page 677-677, September 2025.
Goody N, Poldy J, Malbon A, Morrison T, Montanes-Sancho I, Dancer S, Gunn Moore D.   +6 more
europepmc   +2 more sources

Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease [PDF]

Genes, 2021
The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades.
Shabarni Gupta, Justyna E. Ozimek-Kulik, Jacqueline K. Phillips   +2 more
openalex   +2 more sources

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

Frontiers in Molecular Biosciences, 2023
Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate various ...
Meriem Garfa Traoré, Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous   +11 more
doaj   +1 more source

Bilateral Perinephric Pseudocysts in an Owl Monkey. [PDF]

J Med Primatol
ABSTRACT Perinephric pseudocysts consist of variable accumulations of either urine, lymph, or blood in a fibrous sac surrounding one or both kidneys. Perinephric pseudocysts are occasionally reported in cats and humans and very rarely in other species. Here we describe a case of bilateral perinephric pseudocysts in an owl monkey.
Gozalo AS, Lambert LE, Elkins WR.
europepmc   +2 more sources