Primary cilia act as cellular “antennae” that mediate diverse sensory roles. Primary ciliopathies are a group of inherited developmental disorders resulting from defects in the primary cilium. CEP290 is the largest individual protein in the primary cilium and is a key regulator of ciliary content and cilia formation. CEP290 mutations are the most frequent cause of autosomal recessive ciliopathies (incidence up to 1 in 15,000), that extend from severe syndromic neurodevelopmental disorders to congenital retinal dystrophy. The molecular basis for this phenotypic variability is unknown. A major research focus is therefore gaining mechanistic insight into the tissue-specific roles of CEP290 and variable pathogenicity of CEP290 mutations to enab...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a m...
Summary: Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, inc...
Mutations in CEP290 are associated with phenotypes ranging from early onset retinal degeneration to ...
Mutations in CEP290 are associated with phenotypes ranging from early onset retinal degeneration to ...
Mutations in CEP290, a large multidomain coiled coil protein, are associated with multiple cilia-ass...
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of ...
International audienceCEP290 mutations cause a spectrum of ciliopathies from Leber congenital amauro...
Mutations in the gene CEP290 cause an array of debilitating and phenotypically distinct human diseas...
Mutations in the gene CEP290 cause an array of debilitating and phenotypically distinct human diseas...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of ...
Primary cilia are microtubule-based “antennae-like” organelles extending from the apical surface of ...
Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biolog...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a m...
Summary: Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, inc...
Mutations in CEP290 are associated with phenotypes ranging from early onset retinal degeneration to ...
Mutations in CEP290 are associated with phenotypes ranging from early onset retinal degeneration to ...
Mutations in CEP290, a large multidomain coiled coil protein, are associated with multiple cilia-ass...
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of ...
International audienceCEP290 mutations cause a spectrum of ciliopathies from Leber congenital amauro...
Mutations in the gene CEP290 cause an array of debilitating and phenotypically distinct human diseas...
Mutations in the gene CEP290 cause an array of debilitating and phenotypically distinct human diseas...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of ...
Primary cilia are microtubule-based “antennae-like” organelles extending from the apical surface of ...
Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biolog...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders...
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a m...
Summary: Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, inc...