Results 101 to 110 of about 12,198 (227)
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis [PDF]
, 2014 Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmin(gpg6/gpg6), Atmin(H210Q/H210Q) and Dynll1(GT/GT), revealing how ATMIN and
Agueci, Francesco +22 more
core +3 more sources
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies
Frontiers in Genetics, 2019 The retina contains several ciliated cell types, including the retinal pigment epithelium (RPE) and photoreceptor cells. The photoreceptor cilium is one of the most highly modified sensory cilia in the human body.
Gabrielle Wheway +7 more
doaj +1 more source
Hedgehog Signal and Genetic Disorders
Frontiers in Genetics, 2019 The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and ...
Noriaki Sasai +3 more
doaj +1 more source
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]
, 2017 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia +7 more
core +1 more source
Heat shock induces rapid resorption of primary cilia [PDF]
, 2012 Primary cilia are involved in important developmental and disease pathways, such as the regulation of neurogenesis and tumorigenesis. They function as sensory antennae and are essential in the regulation of key extracellular signalling systems.
Anckar +32 more
core +1 more source
Kidney International Reports, 2020 Bardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming
Emanuela Marchese +4 more
doaj
Frontiers in Pediatrics, 2014 The evaluation and treatment of the heterogeneous group of pediatric kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have ...
Max Christoph Liebau +1 more
doaj +1 more source
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core +1 more source
, 2015 Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J +11 more
core +1 more source