Results 61 to 70 of about 4,587 (195)

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

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

Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd

, 2014
Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in
Bryda, Elizabeth C., Topaloglu, Rezan, Attanasio, Massimo, Vadnagara, Komal, Schaefer, Franz, Taskiran, Ekim Z., Kosukcu, Can, Candan, Cengiz, Chaki, Moumita, Gucer, Safak, Korkmaz, Emine, Kaymaz, Figen, Bergmann, Carsten, Ozaltin, Fatih, Lu, Dongmei, Koyunlar, Cansu   +15 more
core   +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

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

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

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

Bilateral primary renal diffuse large B-cell lymphoma: a rare presentation of paediatric renal disease mimicking juvenile nephronophthisis [PDF]

, 2020
A 12-year-old boy presented with a prolonged history of headache, fatigue and hypertension. Initial investigations were consistent with presumed non-oliguric end-stage renal disease, leading to a provisional diagnosis of juvenile nephronophthisis ...
Bruce, Gordon, Gordon Bruce, Chaudhury, Shahzya, Reynolds, Ben, Shahzya Chaudhury, Ben Reynolds   +5 more
core   +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