about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeMutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)A meckelin-filamin A interaction mediates ciliogenesisTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumEvolutionarily assembled cis-regulatory module at a human ciliopathy locusA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesSAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeletonIdentification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesSimple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.Mutations in TJP2 cause progressive cholestatic liver disease.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.Recent advances in the molecular pathology, cell biology and genetics of ciliopathies.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityVariability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.Illuminator, a desktop program for mutation detection using short-read clonal sequencing.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismA homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.Molecular genetics and functional characterisation of ciliopathies
P50
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P50
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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Clare Victoria Logan
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P106
P1153
24278736500
P21
P31
P496
0000-0003-4323-1602