Results 51 to 60 of about 3,874 (165)

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Molecular Genetics & Genomic Medicine
Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang   +6 more
doaj   +1 more source

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

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

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

Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly

Cytoskeleton, Volume 82, Issue 11, Page 707-718, November 2025.
ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley   +1 more source

Bilateral Perinephric Pseudocysts in an Owl Monkey

Journal of Medical Primatology, Volume 54, Issue 5, October 2025.
ABSTRACT Perinephric pseudocysts consist of variable accumulations of either urine, lymph, or blood in a fibrous sac surrounding one or both kidneys. Perinephric pseudocysts are occasionally reported in cats and humans and very rarely in other species. Here we describe a case of bilateral perinephric pseudocysts in an owl monkey.
Alfonso S. Gozalo, Lynn E. Lambert, William R. Elkins   +2 more
wiley   +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

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 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

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