| RPGRIP1-related retinal disease presenting as isolated cone dysfunction. | RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO. | 11/22/2023 |
| Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. | 01/29/2022 |
| Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations. | Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
Zou G, Zhang T, Cheng X, Igelman AD, Wang J, Qian X, Fu S, Wang K, Koenekoop RK, Fishman GA, Yang P, Li Y, Pennesi ME, Chen R., Free PMC Article | 11/6/2021 |
| Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. | Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Perrault I, Hanein S, Gérard X, Mounguengue N, Bouyakoub R, Zarhrate M, Fourrage C, Jabot-Hanin F, Bocquet B, Meunier I, Zanlonghi X, Kaplan J, Rozet JM., Free PMC Article | 07/24/2021 |
| Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. | Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, Belfort R Jr. | 06/5/2021 |
| Data indicate that the c. 2889delT (p.P963 fs) mutation in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene works as a pathogenic mutation that contributes to the progression of Leber congenital amaurosis (LCA). | Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
Imani S, Cheng J, Mobasher-Jannat A, Wei C, Fu S, Yang L, Jadidi K, Khosravi MH, Mohazzab-Torabi S, Shasaltaneh MD, Li Y, Chen R, Fu J., Free PMC Article | 10/26/2019 |
| Although the patients had 2 mutated genes in common (RPGRIP1 and TMEM216), they only shared one common mutation in RPGRIP1 gene. Thus, it seems that this common RPGRIP1 mutation is associated with radial polydactyly but probably does not play a significant role in the Wassel type differentiation. | Thumb duplication: molecular analysis of different clinical types.
Kyriazis Z, Kollia P, Grivea I, Varitimidis SE, Constantoulakis P, Dailiana ZH. | 06/1/2019 |
| Loss of Rpgrip1 expression is associated with Ciliopathy. | Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
Wiegering A, Dildrop R, Kalfhues L, Spychala A, Kuschel S, Lier JM, Zobel T, Dahmen S, Leu T, Struchtrup A, Legendre F, Vesque C, Schneider-Maunoury S, Saunier S, Rüther U, Gerhardt C., Free PMC Article | 02/2/2019 |
| Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. | Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H, Wang Y, Chen H, Chen Y, Wu J, Chiang PW, Fan N, Su Y, Deng J, Chen D, Li Y, Zhang X, Zhang M, Liang S, Banerjee S, Qi M, Liu X., Free PMC Article | 03/10/2018 |
| Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and. | A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.
Abouzeid H, Othman IS, Schorderet DF. | 08/19/2017 |
| RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review] | Leber congenital amaurosis caused by mutations in RPGRIP1.
Li T., Free PMC Article | 01/2/2016 |
| SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients | Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R., Free PMC Article | 11/28/2015 |
| Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA. | A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
Suzuki T, Fujimaki T, Yanagawa A, Arai E, Fujiki K, Wada Y, Murakami A. | 11/21/2015 |
| Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. | Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ. | 02/28/2015 |
| We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far. | Identification of a novel LCA6 mutation in an Emirati family.
Fakhratova M. | 05/17/2014 |
| Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery. | The RPGRIP1-related retinal phenotype in children.
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. | 07/20/2013 |
| RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia. | RPGRIP1 and cone-rod dystrophy in dogs.
Kuznetsova T, Zangerl B, Aguirre GD., Free PMC Article | 04/14/2012 |
| Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. | The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R. | 01/21/2012 |
| heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma | Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F., Free PMC Article | 07/9/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases. | RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Murga-Zamalloa CA, Swaroop A, Khanna H., Free PMC Article | 05/10/2010 |
| RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. | Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
Mavlyutov TA, Zhao H, Ferreira PA. | 01/21/2010 |
| RPGR ORF15 isoform co-localizes with RPGRIP1 at cenrioles and basal bodies and interacts with nucleophosmin. | RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF. | 01/21/2010 |
| AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa | Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA., Free PMC Article | 01/21/2010 |
| RPGRIP1-mediated nucleocytoplasmic crosstalk emerges with implications in the molecular pathogenesis of retinopathies | Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
Lu X, Guruju M, Oswald J, Ferreira PA., Free PMC Article | 01/21/2010 |