Results 61 to 70 of about 12,198 (227)
Molecular genetics of renal ciliopathies
Biochemical Society Transactions, 2021 Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and ...
John A. Sayer +3 more
openaire +4 more sources
Review on Genes related to Postaxial Polydactyly
Frontiers in Pediatrics, 2015 Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes . There is no primary investigational strategy for PAP cases with single gene disorder in literature.
Ashraf AbdulRahman El-Harouni +1 more
doaj +1 more source
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]
, 2016 The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina +8 more
core +2 more sources
Characterizing the morbid genome of ciliopathies [PDF]
, 2016 Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti +75 more
core +1 more source
Ciliopathies A reference for clinicians [PDF]
Clinical Kidney Journal, 2014 This is a multi-author book encompassing 14 chapters on diseases associated with defects in proteins expressed in the primary cilia, a structure long regarded as a useless vestigial organelle. The first chapter covers our current knowledge of the structure and biology of the motile and non-motile (primary) cilia and proposes a clinical diagnosis ...
Patrick Niaudet, Laurence Heidet
openaire +2 more sources
Usher Syndrome: Genetics of a Human Ciliopathy [PDF]
International Journal of Molecular Sciences, 2021 Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the ...
Carla Fuster-García +6 more
openaire +6 more sources
Počki, 2016 Primary cilia — the cellular organelles derived from cytoplasmic cell membrane of almost any type. They play a role in the perception and the transfer of mechanical and chemical signals from the surface of cells, orientation of division plane ...
O.O. Diadyk +2 more
doaj +1 more source
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]
, 2017 The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit +54 more
core +4 more sources
eLife, 2018 Oligomeric assemblies of intraflagellar transport (IFT) particles build cilia through sequential recruitment and transport of ciliary cargo proteins within cilia.
Michael Taschner +8 more
doaj +1 more source
NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]
, 2012 Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D. +28 more
core +5 more sources