Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
about
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneCharacterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaThe role of RPGR in cilia formation and actin stabilitySubunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteinsSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingAlström syndrome: current perspectivesAxonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarificationSpectrum of clinical diseases caused by disorders of primary ciliaCharacterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafishA ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeDishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarityFuz regulates craniofacial development through tissue specific responses to signaling factorsRegional selection acting on the OFD1 gene familyCarcinogens induce loss of the primary cilium in human renal proximal tubular epithelial cells independently of effects on the cell cycleRetinoic acid improves morphology of cultured peritoneal mesothelial cells from patients undergoing dialysisThe Ca2+-activated Cl- channel ANO1/TMEM16A regulates primary ciliogenesisBasal body proteins regulate Notch signaling through endosomal trafficking.CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGSDeficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?Loss of primary cilia upregulates renal hypertrophic signaling and promotes cystogenesis.Macular dystrophy in Heimler syndrome.Cilia movement regulates expression of the Raf-1 kinase inhibitor proteinMolecular basis of the obesity associated with Bardet-Biedl syndrome.Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.Situs inversus totalis and secondary biliary cirrhosis: a case report.The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Cdc42 and sec10 Are Required for Normal Retinal Development in Zebrafish.Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-IndependentHow insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.Characterization of a new oda3 allele, oda3-6, defective in assembly of the outer dynein arm-docking complex in Chlamydomonas reinhardtii.Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
P2860
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P2860
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@en
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@nl
type
label
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@en
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@nl
prefLabel
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@en
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@nl
P356
P1476
Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.
@en
P2093
Magdalena Cardenas-Rodriguez
P304
P356
10.1002/AJMG.C.30227
P50
P577
2009-11-01T00:00:00Z