Results 71 to 80 of about 6,344 (210)

Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management

Biomolecules
Senior–Loken syndrome (SLSN) is a group of rare autosomal recessive disorders caused by dysfunction of the primary cilium, primarily affecting the kidneys (typically leading to nephronophthisis) and eyes (typically leading to retinal degeneration ...
Di Zhou, Yi Zeng, Weihan Luo, Chenyang Leng, Chen Li   +4 more
doaj   +1 more source

Nephronophthisis: A Genetically Diverse Ciliopathy

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   +1 more source

Low Bone Turnover in Chronic Kidney Disease is associated with decreased VEGF-A expression and osteoblast differentiation [PDF]

, 2015
Background: Low turnover bone (low bone formation rates (BFRs)) with decreased osteoblast number is common in patients with chronic kidney disease (CKD) and attributed to ‘over-suppression' of the parathyroid hormone (PTH) despite supra-physiologic ...
Allen, Matthew R., Chen, Neal X., O'Neill, Kalisha D.   +2 more
core   +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

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease

Kidney International Reports
Introduction: Nephronophthisis (NPH) is a renal ciliopathy characterized by chronic tubulointerstitial fibrosis. Despite discovery of multiple disease genes, mechanisms of NPH-associated kidney degeneration remain poorly understood.
Christin Findeisen, Maria Papazian, Linda Pöschla, Anastasia Ertel, Wenjun Jin, Nydia Panitz, Elena Hantmann, Paul Coucke, Firdous Abdulwahab, Lama AlAbdi, Fawzan S. Alkuraya, May Salem, Hamad Alzaidan, Kai-Uwe Eckardt, Søren T. Christensen, Alexandre Benmerah, Sophie Saunier, Jan Halbritter, Ria Schönauer   +18 more
doaj   +1 more source

Centrosome amplification disrupts renal development and causes cystogenesis [PDF]

, 2018
International ...
Amanda Knoten, Arquint, Astrinidis, Battini, Bettencourt-Dias, Bhaskar, Boehlke, Boletta, Brito, Brown, Burtey, Chang-Panesso, Chen, Chi, Coelho, Cosenza, Davenport, Dere, Distefano, Fisher, Ganem, Godinho, Godinho, Godinho, Goto, Habedanck, Hartman, Hendry, Hoshi, Jain, Jain, Janssen, Jinzhi Wang, Jonassen, Keefe Davis, Kobayashi, Krämer, Kulukian, Kyuhwan Shim, Lai Kuan Dionne, Levine, Lin, Ma, Mahjoub, Majumdar, Marthiens, Marthiens, Masato Hoshi, Masyuk, Moe R. Mahjoub, Mugford, Mundlos, Nano, Nigg, Nigg, Ogden, Patel, Quintyne, Renata Basto, Roselli, Saifudeen, Saifudeen, Sanjay Jain, Schmidt-Ott, Serçin, Shao, Sharma, Shillingford, Silkworth, Sillibourne, Simons, Srivastava, Takakura, Tammachote, Tao Cheng, Veronique Marthiens, Vitre, Werner, Yoder, Zhao   +79 more
core   +8 more sources

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

A case report of NPHP1 deletion in Chinese twins with nephronophthisis

BMC Medical Genetics, 2020
Background Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life.
Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang   +6 more
doaj   +1 more source

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

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