about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumEvolutionarily assembled cis-regulatory module at a human ciliopathy locusFunctional genomic screen for modulators of ciliogenesis and cilium lengthCEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary ciliumAMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorderFaulty initiation of proteoglycan synthesis causes cardiac and joint defectsMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionCCDC41 is required for ciliary vesicle docking to the mother centrioleSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderLinkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesThe primary cilium as a cellular signaling center: lessons from diseaseNSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAsMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersZika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters ProliferationThe Neurobiology of Zika VirusExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeMutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyAHI1 gene mutations cause specific forms of Joubert syndrome-related disordersImpaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisDoublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migrationUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.Classifying a novel brain malformation.Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration.Virmid: accurate detection of somatic mutations with sample impurity inference
P50
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P50
name
Joseph G Gleeson
@en
Joseph G Gleeson
@nl
type
label
Joseph G Gleeson
@en
Joseph G Gleeson
@nl
prefLabel
Joseph G Gleeson
@en
Joseph G Gleeson
@nl