NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
about
A primer on the mouse basal bodyThe role of primary cilia in the development and disease of the retinaThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingAcute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesMouse models of ciliopathies: the state of the art.A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsThe Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.From the cytoplasm into the cilium: bon voyage.Ciliopathies: the trafficking connection.NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.Computational gene expression modeling identifies salivary biomarker analysis that predict oral feeding readiness in the newbornAssessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesisScoring a backstage pass: mechanisms of ciliogenesis and ciliary access.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neuronsSenior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Germline deletion of Cetn1 causes infertility in male mice.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyThe Biology of Ciliary Dynamics.The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.The long reach of noncoding RNAs.Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Sending mixed signals: Cilia-dependent signaling during development and disease.Control of Hedgehog Signalling by the Cilia-Regulated Proteasome.
P2860
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P2860
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
NPHP4 is necessary for normal ...... ion, and for sperm development
@nl
NPHP4 is necessary for normal ...... on, and for sperm development.
@ast
NPHP4 is necessary for normal ...... on, and for sperm development.
@en
type
label
NPHP4 is necessary for normal ...... ion, and for sperm development
@nl
NPHP4 is necessary for normal ...... on, and for sperm development.
@ast
NPHP4 is necessary for normal ...... on, and for sperm development.
@en
prefLabel
NPHP4 is necessary for normal ...... ion, and for sperm development
@nl
NPHP4 is necessary for normal ...... on, and for sperm development.
@ast
NPHP4 is necessary for normal ...... on, and for sperm development.
@en
P2093
P2860
P3181
P356
P1476
NPHP4 is necessary for normal ...... on, and for sperm development.
@en
P2093
Caralina Marín de Evsikova
Chantal Longo-Guess
Jungyeon Won
Jürgen K Naggert
Malia M Edwards
Patsy M Nishina
Richard S Smith
Tiansen Li
Wanda L Hicks
P2860
P304
P3181
P356
10.1093/HMG/DDQ494
P577
2010-11-15T00:00:00Z