Results 41 to 50 of about 4,241 (146)

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Frontiers in Pediatrics, 2018
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are currently
Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers   +7 more
doaj   +1 more source

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

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

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

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

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

SHOX2 promotes prostate cancer proliferation and metastasis through disruption of the Hippo-YAP pathway

iScience, 2023
Summary: The transcription factor SHOX2 gene is critical in regulating gene expression and the development of tumors, but its biological role in prostate cancer (PCa) remains unclear. In this study, we found that SHOX2 expression was significantly raised
Wenjie Yang, Hualin Chen, Lin Ma, Jie Dong, Mengchao Wei, Xiaoqiang Xue, Yingjie Li, Zhaoheng Jin, Weifeng Xu, Zhigang Ji   +9 more
doaj   +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

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

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