about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingC14ORF179 encoding IFT43 is mutated in Sensenbrenner syndromeA novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexesCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyThe DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHuman CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complexDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeMPP1 links the Usher protein network and the Crumbs protein complex in the retinaOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinEvidence for RPGRIP1 gene as risk factor for primary open angle glaucomaInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomainKIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsScaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ronald Roepman
@ast
Ronald Roepman
@en
Ronald Roepman
@es
Ronald Roepman
@nl
Ronald Roepman
@sl
type
label
Ronald Roepman
@ast
Ronald Roepman
@en
Ronald Roepman
@es
Ronald Roepman
@nl
Ronald Roepman
@sl
prefLabel
Ronald Roepman
@ast
Ronald Roepman
@en
Ronald Roepman
@es
Ronald Roepman
@nl
Ronald Roepman
@sl