Results 41 to 50 of about 4,427 (184)

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

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

Frontiers in Pediatrics, 2018
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults.
Shalabh Srivastava, Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer, John A. Sayer   +5 more
doaj   +1 more source

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

Molecular Genetics &Genomic Medicine, Volume 14, Issue 2, February 2026.
A novel homozygous missense variant in LINS1 (c.1354G>C; p.Ala452Pro) was identified in two consanguineous families with autosomal recessive intellectual disability, supporting the gene's role in neurodevelopment and its relevance in genetic diagnosis and counseling of ARID. Reported pathogenic LINS1 variants.
Elham Alimoradi, Parham Nejati, Arash Salmaninejad, Nafiseh Falsafi, Fatemeh Molavi, Mohamad Javad Alibakhshi, Filippo Pinto e Vairo, Eric W. Klee, Reza Alibakhshi   +8 more
wiley   +1 more source

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

Abnormal Hearing Phenotypes in “Ignorome” Knockout Mice as Predictors of Cognitive Dysfunction

Genes, Brain and Behavior, Volume 25, Issue 1, February 2026.
Using data from the International Mouse Phenotyping Consortium, we analyzed over 9000 knockout mouse lines to test whether sensory impairments predict behavioral abnormalities. Knockouts with abnormal hearing showed higher proportions of behavioral deficits, supporting hearing loss as a potential biomarker of cognitive vulnerability.
Sergio Vicencio‐Jimenez, Micheal L. Dent, Amanda M. Lauer   +2 more
wiley   +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

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 49-57, January 2026.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +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

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