Results 11 to 20 of about 4,241 (146)

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   +3 more sources

Case report of a child with nephronophthisis from South Africa [PDF]

BMC Pediatrics
Background Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and ...
Rajendra Bhimma, Edgar Jembere, Sudesh Hariparshad   +2 more
doaj   +2 more sources

Radiological features of Joubert syndrome and clinical case presentation [PDF]

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   +2 more sources

iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis. [PDF]

Stem Cell Res Ther
Suzuki T, Susa K, Kikuchi H, Nakano Y, Yanagi T, Hara Y, Fujiki T, Ando F, Mandai S, Mori Y, Mori T, Iwasa H, Hata Y, Uchida S, Sohara E.   +14 more
europepmc   +2 more sources

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

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman. [PDF]

J Med Cases
Matsuo T, Onishi Y, Morinaga H, Wada J, Tanaka T, Araki M.   +5 more
europepmc   +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

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

Int J Mol Sci
Eckert P, Nöller M, Müller M, Haas R, Ruf J, Franz H, Moos K, Yu J, Zhao D, Xie W, Boerries M, Walz G, Yakulov T.   +12 more
europepmc   +3 more sources

Senior Loken Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease.
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R.K. Goyal   +4 more
doaj   +1 more source

Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion

Stem Cell Research, 2020
Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated
Yutaka Arai, Miho Takami, Yuri An, Mami Matsuo-Takasaki, Yasuko Hemmi, Tamami Wakabayashi, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Keisuke Sugimoto, Tsukasa Takemura, Keisuke Okita, Kenji Osafune, Minoru Takasato, Tadayoshi Hayata, Yohei Hayashi   +15 more
doaj   +1 more source