Results 1 to 10 of about 6,962 (211)

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation [PDF]

Frontiers in Cell and Developmental Biology
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults.
Yutaka Arai, Yutaka Arai, Hidenori Ito, Tomoya Shimizu, Tomoya Shimizu, Yuzuno Shimoda, Yuzuno Shimoda, Dan Song, Mami Matsuo-Takasaki, Tadayoshi Hayata, Yohei Hayashi, Yohei Hayashi   +11 more
doaj   +4 more sources

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria [PDF]

Renal Failure
While nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of
Qiuxia Chen, Jing Ouyang, Fei Zhao, Hongmei Wu, Quancheng Feng, Bixia Zheng, Chunhua Zhu   +6 more
doaj   +3 more sources

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

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   +4 more sources

Nephronophthisis [PDF]

Journal of the American Society of Nephrology, 2009
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as
Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, Alexander K. C. Leung, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, William Lane M. Robson, Alexander K. C. Leung, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, Vanna Micheli, Alexander K. C. Leung, William Lane M. Robson   +87 more
  +6 more sources

Nephronophthisis [PDF]

Childhood Kidney Diseases, 2015
NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
doaj   +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   +4 more sources

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis [PDF]

Frontiers in Cell and Developmental Biology, 2021
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
Marijn F. Stokman, Marijn F. Stokman, Sophie Saunier, Alexandre Benmerah   +3 more
doaj   +2 more sources

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. [PDF]

, 2005
Human nephrocystin is a protein associated with juvenile NPH, an autosomal recessive, inherited kidney disease responsible for chronic renal failure in children.
Antignac, Corinne, Broutin, Isabelle, Dardel, Frédéric, Ducruix, Arnaud, Le Maire, Albane, Saunier, Sophie, Weber, Thomas   +6 more
core   +4 more sources

Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]

International Journal of Nephrology, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer   +3 more
doaj   +5 more sources

Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 [PDF]

Frontiers in Pediatrics
Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents.
Ting Dong, Jiajia Luo, Tianhong Sun, Huimin Wu, Qing Zhao, Lina Ma, Jing Yang   +6 more
doaj   +2 more sources