Results 51 to 60 of about 4,587 (195)

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Kidney International Reports
Introduction: Primary cilia (PCs) are sensory antennae that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli.
Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah   +13 more
doaj   +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

A case of Non-compaction of Left Ventricle Coexistent with Juvenile Nephronophthisis. Is this Another Presentation of Ciliopathy?

, 2014
Nephronophthisis is a chronic tubulo-interstitial nephritis which can progress to end-stage renal disease. Juvenile nephronophthisis is the most common type of nephronophthisis, which accounts for 5-10% of the cases of pediatric end stage renal diseases.
Afkhami, Mojdeh, Tanasan, Asadolah, Momtaz, Hossein Emad   +2 more
core   +1 more source

Senior-Loken Syndrome with Rare Manifestations: A Case Report

Eurasian Journal of Medicine, 2019
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability ...
Harikrishan K. Aggarwal, Deepak Jain, Sachin Yadav, Vipin Kaverappa, Abhishek Gupta   +4 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

Nephronophthisis Is an Important Differential Diagnosis of Nonspecific Interstitial Nephritis in Adults

, 2022
TO THE EDITOR: We read with great interest the case report by Choi et al.1 of a patient with nonspecific interstitial nephritis (IN) in whom a diagnosis of NPHP3 was made 30 years later.
Jadoul, Michel, Demoulin, Nathalie, Dahan, Karin, Gillion, Valentine   +3 more
core   +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

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

Nephronophthisis and related syndromes [PDF]

Current Opinion in Pediatrics, 2015
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with 20 identified genes.
openaire   +2 more sources

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

, 2011
Nephronophthisis (NPHP) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts.
Susan J. Allen, Hoefele, Julia, Edgar A. Otto, Imm, Anita, Hildebrandt, Friedhelm, Julia Hoefele, Ahmet Nayir, Chaki, Moumita, Friedhelm Hildebrandt, Allen, Susan J., Moumita Chaki, Anita Imm, Nayir, Ahmet, Otto, Edgar A.   +13 more
core   +1 more source