RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
about
The dynamic cilium in human diseasesMutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaSplice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaMutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesDYX1C1 is required for axonemal dynein assembly and ciliary motilityDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaGenetics and biology of primary ciliary dyskinesiaSensory functions of motile cilia and implication for bronchiectasisCiliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapyUnexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationMutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Sensing a sensor: identifying the mechanosensory function of primary ciliaPrimary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesDeciphering the structure and function of Als2cr4 in the mouse retina.Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRCiliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Cdc42 and sec10 Are Required for Normal Retinal Development in Zebrafish.Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patientsStem cells and fluid flow drive cyst formation in an invertebrate excretory organRSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial SpokesRPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseRetinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
P2860
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P2860
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@ast
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@en
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@nl
type
label
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@ast
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@en
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@nl
prefLabel
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@ast
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@en
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@nl
P2093
P2860
P356
P1476
RPGR is mutated in patients wi ...... nesia and retinitis pigmentosa
@en
P2093
A-M Bridoux
E Escudier
P2860
P304
P356
10.1136/JMG.2005.034868
P407
P50
P577
2005-07-31T00:00:00Z