Results 101 to 110 of about 13,378 (282)
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [PDF]
, 2014 Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, R. +14 more
core +2 more sources
Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development
Developmental Dynamics, EarlyView.Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin +8 more
wiley +1 more source
Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]
, 2019 X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid
Chang, Chia-Ching +18 more
core +2 more sources
Expanding CEP290 mutational spectrum in ciliopathies [PDF]
American Journal of Medical Genetics Part A, 2009 AbstractCiliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel ...
Roberta Battini +173 more
openaire +10 more sources
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Human Mutation, 2020 Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual ...
Daniel Epting +29 more
semanticscholar +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks +2 more
wiley +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
Ocular manifestations of renal ciliopathies
Pediatric Nephrology, 2023 AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi +4 more
openaire +3 more sources
A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development
Frontiers in Physiology, 2018 Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities.
Anshul K. Kulkarni +7 more
doaj +1 more source
Cells, 2020 Ciliopathies are a group of human genetic disorders associated with mutations that give rise to the dysfunction of primary cilia. Ciliogenesis-associated kinase 1 (CILK1), formerly known as intestinal cell kinase (ICK), is a conserved serine and ...
Eric J. Wang +3 more
doaj +1 more source