Results 71 to 80 of about 5,140 (191)

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

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

Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease, Chapter 5

Internal Medicine Journal, Volume 56, Issue S5, Page 18-20, November 2026.
Sadia Jahan, Julia Jefferis, Jacqueline Soraru, Chirag Patel, Erik Biros, Trudie Harris, Kushani Jayasinghe, Amali Mallawaarachchi, Zornitza Stark, Andrew J. Mallett, on behalf of the KidGen Guidelines Working Group   +10 more
wiley   +1 more source

Opportunities for renal genetic evaluation among pregnant patients with kidney disease

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam, Christian M. Parobek, Taylor Moseley, Ansley E. Davis, Stacie G. Denning, Mir Reza, Sai K. Saridey, Hennie A. Lombaard   +7 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Calpain inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis

Transparent method of "Calpain inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis"
Sun, Liangzhong
core   +1 more source

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

, 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

Evaluation of Kidney Transplantation Outcomes of Pediatric Patients with Ciliopathy: A Single Center Experience

Journal of Pediatric Research
Aim: Ciliopathies are rare genetic diseases referring to a group of syndromic diseases characterized by the deterioration of the structure of the cilia, which may cause kidney failure in childhood.
Sevgin Taner, Nur Beril Özden, Banu Sarsık Kumbaracı, Sait Şen, Gülizar Koç, Taylan Özgür Sezer, Seçil Conkar Tunçay, Su Özgür, Ahmet Keskinoğlu, İpek Kaplan Bulut   +9 more
doaj   +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

Mutations in ANKS6 cause a Nephronophthisis‐Like Phenotype with End Stage Renal Disease

, 2014
Nephronophthisis (NPHP) is one of the most common genetic causes of chronic kidney disease (CKD); however the underlying genetic abnormalities have been established in less than 50% of cases.
Fatih Ozaltin (524819), Ekim Z. Taskiran, Emine Korkmaz, Safak Gucer, Can Kosukcu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C. Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloglu, Franz Schaefer, (524821)   +1 more
core   +1 more source