Results 71 to 80 of about 4,587 (195)

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports, Volume 13, Issue 9, September 2025.
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
wiley   +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

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Disease Models & Mechanisms, 2022
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant   +15 more
doaj   +1 more source

Involving Adolescents in Decision‐Making in Pediatric Organ Transplantation: A Qualitative Study in Switzerland

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
This is the first interview study exploring the perspectives of transplanted adolescents on decision‐making regarding transplantation, and it shows that they want to be part of decision‐making at different levels of involvement. ABSTRACT Background In pediatrics, the triadic relationships between the adolescent, parents, and healthcare providers, as ...
Alana Vallo‐Sacchettini, Cristina Zimmermann, Olivier Janjic, Michael Rost, Bernice Elger   +4 more
wiley   +1 more source

Modeling congenital kidney diseases in Xenopus laevis

Disease Models & Mechanisms, 2019
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of new ...
Alexandria T. M. Blackburn, Rachel K. Miller   +1 more
doaj   +1 more source

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

, 2002
Nephronophthisis, the most common genetic cause of chronic renal failure in children, is a progressive tubulo-interstitial kidney disorder that is inherited as an autosomal recessive trait. The disease is characterized by polyuria, growth retardation and
Silbermann, F, Delphine Bacq, Milford, D, Olivier Gribouval, Flora Silbermann, Rizzoni, G, Géraldine Mollet, David Milford, Gianfranco Rizzoni, Mollet, G, Gribouval, O, Bacq, D, Ahmet Nayir, Landthaler, G, Nayir, A, Sophie Saunier, Rémi Salomon, Saunier, S, Gilbert Landthaler, Salomon, R, Antignac, C, Corinne Antignac   +21 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  

A Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity Mapping

, 1998
SummaryA novel type of infantile nephronophthisis was identified in an extended Bedouin family from Israel. This disease has an autosomal recessive mode of inheritance, with the phenotypic presentation ranging from a Potter-like syndrome to ...
Haider, Neena B., Landau, Daniel, Shalev, Hana, Sheffield, Val C., Carmi, Rivka   +4 more
core   +1 more source

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Clinical and Translational Medicine
Introduction Nephronophthisis (NPH) is an autosomal recessive interstitial cystic kidney disease, which is the most common genetic cause of end‐stage renal disease (ESRD) in childhood.
Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun   +9 more
doaj   +1 more source

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

, 2005
Contains fulltext : 47483.pdf (Publisher’s version ) (Open Access)RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator ...
Beersum, S.E.C. van, Ferreira, P.A., Lu, X., Cremers, F.P.M., Letteboer, S.J.F., Arts, H.H., Krieger, E., Roepman, R.   +7 more
core   +1 more source