CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
about
C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and humanMultivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.The chemical complexity of cellular microtubules: tubulin post-translational modification enzymes and their roles in tuning microtubule functionsZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeThe IN/OUT assay: a new tool to study ciliogenesisKIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeMouse models of ciliopathies: the state of the art.The Cilium: Cellular Antenna and Central Processing UnitInhibition of autophagy suppresses sertraline-mediated primary ciliogenesis in retinal pigment epithelium cellsIntestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signalingVestibular dysfunction, altered macular structure and trait localization in A/J inbred mice.Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and functionMutations in C5ORF42 cause Joubert syndrome in the French Canadian populationCiliopathies: the trafficking connection.Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans.The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and functionTubulin glycylases are required for primary cilia, control of cell proliferation and tumor development in colon.Mechanisms of otoconia and otolith developmentLarge-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesThe ciliary transition zone: from morphology and molecules to medicineA homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case reportIdentification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.The ciliopathies: a transitional model into systems biology of human genetic disease.Arl13b and the exocyst interact synergistically in ciliogenesisJoubert syndrome: genotyping a Northern European patient cohort.Septin cooperation with tubulin polyglutamylation contributes to cancer cell adaptation to taxanesMutation spectrum of Joubert syndrome and related disorders among Arabs.Current insights into renal ciliopathies: what can genetics teach us?Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsDigenic inheritance in medical geneticsPhenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersPrimary cilia and kidney injury: current research status and future perspectivesJoubert syndrome: congenital cerebellar ataxia with the molar toothJoubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
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P248
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P2860
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@ast
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en-gb
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@nl
type
label
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@ast
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en-gb
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@nl
prefLabel
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@ast
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en-gb
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@nl
P2093
P2860
P50
P921
P3181
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P1433
P1476
CEP41 is mutated in Joubert sy ...... in glutamylation at the cilium
@en
P2093
Andrew Cluckey
Andrew M Schlossman
Barry Merriman
Carrie M Louie
Colin A Johnson
Daniel A Doherty
Hilary R Raynes
Ian A Glass
Ignacio P Castroviejo
Isabelle Rapin
P2860
P2888
P3181
P356
10.1038/NG.1078
P407
P50
P577
2012-02-01T00:00:00Z
P5875
P6179
1010769020