Results 51 to 60 of about 5,140 (191)

Senior- Loken Syndrome – A Ciliopathy [PDF]

Journal of Clinical and Diagnostic Research, 2014
Senior – Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto – retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of ...
Hemachandar R
doaj   +1 more source

Nephronophthisis and related syndromes [PDF]

Current Opinion in Pediatrics, 2015
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with 20 identified genes.
openaire   +2 more sources

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Nephronophthisis Is an Important Differential Diagnosis of Nonspecific Interstitial Nephritis in Adults

, 2022
TO THE EDITOR: We read with great interest the case report by Choi et al.1 of a patient with nonspecific interstitial nephritis (IN) in whom a diagnosis of NPHP3 was made 30 years later.
Jadoul, Michel, Demoulin, Nathalie, Dahan, Karin, Gillion, Valentine, Nathalie Demoulin, Valentine Gillion, Karin Dahan, Michel Jadoul   +7 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd

, 2014
Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in
Bryda, Elizabeth C., Topaloglu, Rezan, Attanasio, Massimo, Vadnagara, Komal, Schaefer, Franz, Taskiran, Ekim Z., Kosukcu, Can, Candan, Cengiz, Chaki, Moumita, Gucer, Safak, Korkmaz, Emine, Kaymaz, Figen, Bergmann, Carsten, Ozaltin, Fatih, Lu, Dongmei, Koyunlar, Cansu   +15 more
core   +1 more source

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. 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
doaj   +1 more source

Senior-Loken Syndrome with Rare Manifestations: A Case Report

Eurasian Journal of Medicine, 2019
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability ...
Harikrishan K. Aggarwal, Deepak Jain, Sachin Yadav, Vipin Kaverappa, Abhishek Gupta   +4 more
doaj   +1 more source

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network

, 2010
Nephronophthisis is a heterogenetic autosomal recessive disorder associated with multiple developmental abnormalities, including cystic kidney disease and retinal degeneration.
Haribaskar, Ramachandran, Gerner, Martin, Schäfer, Tobias, Walz, Gerd, Pütz, Michael, Czerwitzki, Jacqueline   +5 more
core   +1 more source

PREDICTION OF RENAL PROGNOSIS IN NEPHRONOPHTHISIS

, 2021
International audienceIntroduction: Nephronophthisis comprises rare genetic defects accounting for 10% of end-stage kidney disease (ESKD) in children. Despite the improved molecular understanding, prediction of individual renal prognoses still poses a ...
Mastrangelo, Antonio, Kollmann, Sabine, Lilien, Marc, Gerß, Joachim, Schanstra, Joost Peter, König, Jens, Karsay, Rebeka, Bertholet-Thomas, Aurélia, Boyer, Olivia, Konrad, Martin, Decramer, Stéphane, Telgmann, Anna-Katharina, Schlingmann, Karl Peter, Bockenhauer, Detlef, Pennekamp, Petra, Dahmer-Heath, Mareike, Ariceta, Gema, Gillion, Valentine   +17 more
core   +3 more sources