| Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family. | Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.
Zhang P, Wu B, Wang Y, Ren Y, Li G, Qan Y, Lei C, Wang H. | 10/22/2022 |
| Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. | Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.
Wiegering A, Dildrop R, Vesque C, Khanna H, Schneider-Maunoury S, Gerhardt C., Free PMC Article | 09/18/2021 |
| The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. | The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J., Free PMC Article | 05/15/2021 |
| it might be reasonable to consider RPGRIP1L as an important gene whose variations could be associated with obesity risk factors. | A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS).
Javanrouh N, Soltanian AR, Tapak L, Azizi F, Ott J, Daneshpour MS. | 05/11/2019 |
| T allele in RPGRIP1L gene might increase the risk of vitiligo in a Chinese Han population. | Rs3213758 in the RPGRIP1L Gene Associated with Susceptibility to Segmental Vitiligo in a Chinese Han Population.
Hu M, Wang TM, Dong YY, She QY, Gao S, Liu DX, Deng YH., Free PMC Article | 03/30/2019 |
| Biotinylation assays on cell surface proteins not only reinforced the role of RPGRIP1L in desmoglein endocytosis, but also suggested that RPGRIP1L may be more broadly involved in endocytosis. Thus, data obtained from this study advanced our understanding of the biological functions of RPGRIP1L by identifying its role in the cellular endocytic pathway. | RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis.
Choi YJ, Laclef C, Yang N, Andreu-Cervera A, Lewis J, Mao X, Li L, Snedecor ER, Takemaru KI, Qin C, Schneider-Maunoury S, Shroyer KR, Hannun YA, Koch PJ, Clark RA, Payne AS, Kowalczyk AP, Chen J., Free PMC Article | 03/16/2019 |
| Loss of Rpgrip1l 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 |
| we didn't found the significant association between RPGRIP1L and BMI in Chinese women | Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women.
Chen B, Li Z, Chen J, Ji J, Shen J, Xu Y, Zhao Y, Liu D, Shen Y, Zhang W, Shen J, Wang Y, Shi Y. | 11/17/2018 |
| our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients. | The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L.
Assis LH, Silva-Junior RM, Dolce LG, Alborghetti MR, Honorato RV, Nascimento AF, Melo-Hanchuk TD, Trindade DM, Tonoli CC, Santos CT, Oliveira PS, Larson RE, Kobarg J, Espreafico EM, Giuseppe PO, Murakami MT., Free PMC Article | 11/10/2018 |
| Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). | Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. | 07/8/2017 |
| KIAA1005 (rs3213758)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. | Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Cheong KA, Kim NH, Noh M, Lee AY., Free PMC Article | 12/14/2013 |
| All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient. | Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D., Free PMC Article | 12/22/2012 |
| First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia. | Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia.
Woo J, Lee C. | 06/23/2012 |
| Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. | Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP., Free PMC Article | 04/14/2012 |
| Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. | Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP., Free PMC Article | 02/18/2012 |
| 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 |
| Insulin was identified as a key factor regulating FTM expression during human preadipocyte differentiation. | Regulation of FTO and FTM expression during human preadipocyte differentiation.
Tews D, Fischer-Posovszky P, Wabitsch M. | 04/23/2011 |
| CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4. | CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.
Patzke S, Redick S, Warsame A, Murga-Zamalloa CA, Khanna H, Doxsey S, Stokke T., Free PMC Article | 11/27/2010 |
| RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration. | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N., Free PMC Article | 11/6/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA., Free PMC Article | 03/8/2010 |
| data suggest that RPGRIP1L suppresses anchorage-independent growth partly through the mitotic checkpoint protein Mad2. | The basal body gene, RPGRIP1L, is a candidate tumour suppressor gene in human hepatocellular carcinoma.
Lin YW, Yan MD, Shih YL, Hsieh CB. | 01/21/2010 |
| RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%). | RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM, Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM., Free PMC Articles: PMC2752690, PMC2752690 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesMutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F, GPN Study Group. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.
Riley B, Thiselton D, Maher BS, Bigdeli T, Wormley B, McMichael GO, Fanous AH, Vladimirov V, O'Neill FA, Walsh D, Kendler KS. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM, Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. | 07/2/2008 |
| Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. Review. | Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
Devuyst O, Arnould VJ. | 01/21/2010 |