A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
about
Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and MicrocephalinThe Lowe syndrome protein OCRL1 is involved in primary cilia assemblyOCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeA PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolismA role of the Lowe syndrome protein OCRL in early steps of the endocytic pathwayAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumRecurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesPredicted protein interactions of IFITMs which inhibit Zika virus infectionThe cellular and physiological functions of the Lowe syndrome protein OCRL1Phosphoinositides: tiny lipids with giant impact on cell regulationRecognition of the F&H; motif by the Lowe syndrome protein OCRLSCO-ping out the mechanisms underlying the etiology of hydrocephalusMutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germlineASPM and the evolution of cerebral cortical size in a community of New World monkeysMolecular evolution of genes in avian genomesCrystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndromeAnalyses of functional domains within the PF6 protein of the central apparatus reveal a role for PF6 sub-complex members in regulating flagellar beat frequencyThe hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules.Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression.Role of primary cilia in brain development and cancerLowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe SyndromeCentrosomal protein of 192 kDa (Cep192) promotes centrosome-driven spindle assembly by engaging in organelle-specific Aurora A activationMouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.Molecular genetics of human primary microcephaly: an overview.Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility.The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.OCRL1 modulates cilia length in renal epithelial cells.What's the hype about CDK5RAP2?Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.Structure and function of the ependymal barrier and diseases associated with ependyma disruption.The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.Evolution of ASPM is associated with both increases and decreases in brain size in primates.Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8Targeting of ASH Domain-Containing Proteins to the Centrosome.
P2860
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P2860
A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
@en
type
label
A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
@en
prefLabel
A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
@en
P2860
P356
P1433
P1476
A novel domain suggests a ciliary function for ASPM, a brain size determining gene.
@en
P2860
P304
P356
10.1093/BIOINFORMATICS/BTL022
P407
P577
2006-01-27T00:00:00Z