Laura A. Devlin
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View article: Renal ciliopathies: promising drug targets and prospects for clinical trials
Renal ciliopathies: promising drug targets and prospects for clinical trials Open
Tolvaptan is currently the sole approved treatment option available for ADPKD patients, while no approved treatment alternatives exist for ARPKD or NPHP patients. Clinical trials are presently underway to evaluate additional medications in…
View article: Biallelic variants in <scp><i>CEP164</i></scp> cause a motile ciliopathy‐like syndrome
Biallelic variants in <span><i>CEP164</i></span> cause a motile ciliopathy‐like syndrome Open
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain…
View article: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development Open
Background Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently des…
View article: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development Open
Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently de…
View article: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development Open
Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently de…
View article: Expression Patterns of Ciliopathy Genes ARL3 and CEP120 Reveal Roles in Multisystem Development
Expression Patterns of Ciliopathy Genes ARL3 and CEP120 Reveal Roles in Multisystem Development Open
Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described gene…
Embryonic and foetal expression patterns of the ciliopathy gene CEP164 Open
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other …
View article: Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome Open
Significance Our current understanding of genetic disease is often inadequate, largely due to genetic background effects that modify disease presentation. This is particularly challenging for rare diseases that lack sufficient numbers of p…
View article: Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model Open
Significance The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment. Here we show that by using antisense oligonucleotides, we can induce…