Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Genotype–phenotype correlates in Joubert syndrome: A review
S Gana, V Serpieri, EM Valente - American Journal of Medical …, 2022 - Wiley Online Library
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
MA Parisi - Translational science of rare diseases, 2019 - content.iospress.com
Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …
The Joubert–Meckel–nephronophthisis spectrum of ciliopathies
JC Van De Weghe, A Gomez… - Annual review of …, 2022 - annualreviews.org
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …
CEP104/FAP256 and associated cap complex maintain stability of the ciliary tip
T Legal, M Parra, M Tong, CS Black… - Journal of Cell …, 2023 - rupress.org
Cilia are essential organelles that protrude from the cell body. Cilia are made of a
microtubule-based structure called the axoneme. In most types of cilia, the ciliary tip is …
microtubule-based structure called the axoneme. In most types of cilia, the ciliary tip is …
Healthcare recommendations for Joubert syndrome
R Bachmann‐Gagescu, JC Dempsey… - American journal of …, 2020 - Wiley Online Library
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …
Review of ocular manifestations of Joubert syndrome
SF Wang, TJ Kowal, K Ning, EB Koo, AY Wu… - Genes, 2018 - mdpi.com
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle,
the primary cilia. Affected patients often present with disorders involving multiple organ …
the primary cilia. Affected patients often present with disorders involving multiple organ …
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
BL Latour, JC Van De Weghe… - The Journal of …, 2020 - Am Soc Clin Investig
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a
pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in …
pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in …
Microtubule plus-end tracking proteins in neuronal development
D van de Willige, CC Hoogenraad… - Cellular and Molecular …, 2016 - Springer
Regulation of the microtubule cytoskeleton is of pivotal importance for neuronal
development and function. One such regulatory mechanism centers on microtubule plus …
development and function. One such regulatory mechanism centers on microtubule plus …