Results 91 to 100 of about 8,333 (256)

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]

, 2014
Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core   +1 more source

Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation

Frontiers in Genetics, 2022
Objective: Nephronophthisis (NPHP) is a rare autosomal recessive inherited kidney disease that can cause cystic enlargement of the kidneys, and lead to end-stage renal disease (ESRD) before the age of 30 years.
Z. Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, W. Qin   +8 more
semanticscholar   +1 more source

Tocilizumab as Adjuvant Therapy in Refractory Antibody Mediated Rejection in Pediatric Kidney Transplant Recipients

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
ABSTRACT Background Antibody mediated rejection (ABMR) is a major cause of graft loss in kidney transplantation. There are limited treatment options with poor efficacy. Intravenous tocilizumab has been reported to be of benefit in a small number of patients.
Anne M. Durkan, Melanie Aldridge, Stephen I Alexander, Deirdre Hahn   +3 more
wiley   +1 more source

Development and disease of the photoreceptor cilium [PDF]

, 2009
Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams, Apfeld, Arikawa, Arts, Baker, Barnes, Blacque, Blacque, Boon, Cole, Cole, Connell, Davenport, Davis, Fliegauf, Gao, Goldberg, Hartong, Hong, Humphries, Insinna, Insinna, Jansen, Jimeno, Kozminski, Krock, Leroux, Liu, Liu, Liu, Marszalek, Moore, Moritz, Nachury, Nir, Ou, Pazour, Pedersen, Reiners, Roepman, Sanyal, Sukumaran, Tobin, Travis, Weil, Williams, Wright, Young, Zhao   +48 more
core   +1 more source

Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis‐4

Journal of clinical laboratory analysis (Print)
Nephronophthisis‐4 (NPHP4) is an inherited renal ciliopathy described by renal fibrosis and progressive impairment of kidney function. This study aimed to investigate the genetic basis and clinical manifestations of NPHP4 in two Iranian siblings.
Zahra Miri Karam, Atieh Karimi Gohari, Mohammad Javad Rezazadeh Khabaz, Abolfazl Yari, S. M. E. Meybodi, Rezvan Attari, Maryam Torabi, Farzane Vafaeie, Fateme Moradi Moraddahande, Sara Amiri, Kolsoum Saeidi   +10 more
semanticscholar   +1 more source

Different Clinical Courses of Nephronophthisis in Dizygotic Twins

Internal medicine, 2022
Siblings with nephronophthisis occasionally show different clinical courses; however, the reasons for this remain unclear. We herein report cases of nephronophthisis in a pair of dizygotic twins with different clinical courses.
Yutaro Oki, A. Katsuma, M. Okabe, M. Watanabe, Makoto Sagasaki, Daisuke Takahashi, Ai Kimura, Junichiro Kato, Hiroyuki Ueda, H. Hataya, Takuya Fujimaru, Takayasu Mori, E. Sohara, S. Uchida, Y. Miyazaki, T. Yokoo   +15 more
semanticscholar   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, Volume 12, Issue 31, August 21, 2025.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica [PDF]

, 2010
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis ...
KOK, Fernando, LEÃO, Emília Katiane Embiruçu, LIMA, Marcília Martyn, MAIA JÚNIOR, Otacílio de Oliveira, PARIZOTTO, Juliana   +4 more
core   +2 more sources

Posterior Reversible Leukoencephalopathy Syndrome and Disseminated Varicella‐Zoster Virus Infection After Kidney Transplantation

IJU Case Reports, Volume 8, Issue 4, Page 330-333, July 2025.
ABSTRACT Introduction Posterior reversible leukoencephalopathy syndrome (PRES) is a rare but serious complication in kidney transplant recipients, often triggered by calcineurin inhibitors (CNIs) and infections. Case Presentation A 52‐year‐old woman with end‐stage kidney disease underwent cadaveric renal transplantation. Two months post‐transplant, she
Kenji Tsutsui, Shigeaki Nakazawa, Makoto Kinoshita, Yoko Higa, Soichi Matsumura, Shota Fukae, Ryo Tanaka, Norichika Ueda, Yoichi Kakuta, Norio Nonomura   +9 more
wiley   +1 more source

SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7. [PDF]

PLoS ONE, 2015
Glis2/NPHP7 is a transcriptional regulator mutated in type 7 nephronophthisis, an autosomal recessive ciliopathy associated with cystic and fibrotic kidney disease as well as characteristic extrarenal manifestations.
Haribaskar Ramachandran, Konstantin Herfurth, Rudolf Grosschedl, Tobias Schäfer, Gerd Walz   +4 more
doaj   +1 more source