Results 51 to 60 of about 6,344 (210)

Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]

, 2016
The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco, Carpino, Guido, Franchitto, Antonio, Gaudio, Eugenio, Glaser, Shannon, Mancinelli, Romina, Olivero, Francesca, Onori, Paolo, Pannarale, Luigi, Sferra, Roberta, Venter, Julie, Vetuschi, Antonella   +11 more
core   +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

Uromodulin storage diseases: clinical aspects and mechanisms. [PDF]

, 2004
The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a ...
Agre, Antonio Amoroso, Attar, Auranen, Bachmann, Bates, Bingham, Bingham, Bleyer, Bleyer, Brater, Carson, Chambers, Christodoulou, Ciechanover, Claudia Izzi, Coe, Cox, Dahan, Dahan, Doroti Pirulli, Ellgaard, Emma, Enomoto, Feather, Francesco Scolari, Fukuoka, Gian Marco Ghiggeri, Gianluca Caridi, Giorgio Casari, Gokhale, Gresh, Gusmano, Hart, Hartl, Heptinstall, Hershko, Hession, Hildebrandt, Hildebrandt, Hildebrandt, Hou, Hoyer, Huang, Jovine, Kamatani, Kaufman, Kobayashi, Kotanko, Kroiss, Kudo, Leal-Pinto, Luca Rampoldi, Maesaka, Mattey, Mayrer, McQueen, Melnick, Miyake, Mo, Nauli, Oh, Olbrich, Ong, Orskov, Otto, Otto, Pahl, Pak, Parkkinen, Pennica, Prasadan, Rampoldi, Regina Tardanico, Resnick, Rezende-Lima, Sanders, Schroter, Scolari, Scolari, Serafini-Cessi, Sharp, Simon, Stiburkova, Stiburkova, Su, Taulman, Thomas, Torffvit, Turner, Wang, Wangsiripaisan, Wilson, Wolf, Worcester, Woronik, Wu, Ying, Yoder, Yu, Zager   +100 more
core   +1 more source

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation

Frontiers in Cell and Developmental Biology
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults.
Yutaka Arai, Yutaka Arai, Hidenori Ito, Tomoya Shimizu, Tomoya Shimizu, Yuzuno Shimoda, Yuzuno Shimoda, Dan Song, Mami Matsuo-Takasaki, Tadayoshi Hayata, Yohei Hayashi, Yohei Hayashi   +11 more
doaj   +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

Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

, 2015
Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining pathological features are fluid-filled cysts developing from nephric tubules due to defective flow sensing, cell proliferation and differentiation.
Alexander, R., Alvarado, A., Lakshmanaperumal, N., McClain, M., McKinney, S., Rink, J., Vu, H.   +6 more
core   +1 more source

Ciliogenesis and the DNA damage response: A stressful relationship [PDF]

, 2016
Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of ...
Collis, SJ, Johnson, CA
core   +3 more sources

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

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

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