Results 71 to 80 of about 2,206,324 (288)
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene. [PDF]
, 2021 We have developed Joubert syndrome (JS)-derived induced pluripotent stem cell (iPSC) lines from dermal fibroblasts biopsied from a female patient harbouring novel compound heterozygous mutations in CC2D2A gene.
Adele Guglielmi +11 more
core +1 more source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
American Journal of Medical Genetics. Part A, 2022 Joubert syndrome (JS), a well‐established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features.
Monica Penon-Portmann +13 more
semanticscholar +1 more source
Molar tooth sign − looking beyond the obvious
South African Journal of Radiology, 2013 The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj +1 more source
PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]
, 2016 The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy +4 more
core +1 more source
Ocular Manifestations Leading to a Diagnosis of Joubert Syndrome Related Disorder.
Nepalese Journal of Ophthalmology, 2022 INTRODUCTION Joubert syndrome is an inherited disorder of rare occurrence usually presenting as developmental delay, hypotonia, hyperpnea and ataxia. The diagnosis is confirmed by characteristic findings in neuroimaging.
D. Jain, V. Ravishankar
semanticscholar +1 more source
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
Neurology: Genetics, 2022 Background and Objectives We describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in the CPLANE1 gene.
Kento Matoba +8 more
semanticscholar +1 more source
Dental Management of a Child with Joubert Syndrome. [PDF]
Iran J Child Neurol, 2022 Joubert syndrome is a rare genetic autosomal recessive disorder, which is estimated to occur in 80,000 to 100,000 live births. Brain magnetic resonance imaging (MRI) indicating the molar tooth sign can be an important indicator of Joubert syndrome ...
Rafatjou R, Torkaman S, Daneshyar F.
europepmc +2 more sources
A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]
, 2018 The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina +3 more
core +2 more sources
Abnormal glycosylation in Joubert syndrome type 10 [PDF]
, 2017 BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome
+several additional authors +7 more
core +4 more sources