Results 101 to 110 of about 8,699 (199)

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +1 more source

Molecular genetics and functional characterisation of ciliopathies

, 2011
Primary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles chemo- and mechanosensation.
Wheway, Gabrielle
core  

Scrutinizing ciliopathies by unraveling ciliary interaction networks

, 2011
Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia.
Reeuwijk, J. van, Arts, H.H., Roepman, R.   +2 more
core   +1 more source

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

, 2011
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal failure in the first three decades of life.
Carsten Bergmann, Hoefele, Julia, Susan J. Allen, Edgar A. Otto, Hildebrandt, Friedhelm, Julia Hoefele, Gokul Ramaswami, Sabine Janssen, Chaki, Moumita, Friedhelm Hildebrandt, Janssen, Sabine, Allen, Susan J., Ramaswami, Gokul, Heckenlively, John R., Moumita Chaki, Bergmann, Carsten, Otto, Edgar A., John R. Heckenlively   +17 more
core   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports
Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD). Although the link between trisomy 13 and PKD is recognized, the timing and progression of renal cyst development remain ...
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
doaj   +1 more source

Are renal ciliopathies (replication) stressed out?

, 2020
Juvenile renal failure is commonly caused by the ciliopathy nephronophthisis (NPHP). Since all NPHP genes regulate cilia function, it has been assumed that NPHP onset is due to cilia loss.
Rachel H Giles, Gisela G Slaats
core  

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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Senior- Loken Syndrome – A Ciliopathy

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 life. Both the patients presented with severe renal failure requiring hemodialysis.
openaire   +3 more sources

Molecular genetics and functional characterization of ciliopathies

Primary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles in chemo- and mechanosensation. A suite of inherited human conditions are caused by defects in the structure or function of
Wheway, Gabrielle
core