| Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. | Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients.
Wiphakphongpakorn P, Juengsomjit R, Poomsawat S, Meesakul O, Bhattarai BP, Klongnoi B, Buajeeb W, Khovidhunkit SP., Free PMC Article | 06/30/2024 |
| Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. | Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM., Free PMC Article | 06/18/2022 |
| Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. | Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Huang Z, Zhang D, Thompson JA, Jamuar SS, Roshandel D, Jennings L, Mellough C, Charng J, Chen SC, McLaren TL, Lamey TM, Chelva E, De Roach JN, Chan CM, McLenachan S, Chen FK. | 01/1/2022 |
| Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. | Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q. | 01/1/2022 |
| Data indicate RNA Binding Protein with Multiple Splicing (RBPMS), Regulator of Chromosome Condensation and POZ Domain Containing Protein 1 (RCBTB1), and Zinc Finger protein 608 (ZNF608) as miR-21-3p target genes. | Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells.
Báez-Vega PM, Echevarría Vargas IM, Valiyeva F, Encarnación-Rosado J, Roman A, Flores J, Marcos-Martínez MJ, Vivas-Mejía PE., Free PMC Article | 12/30/2017 |
| study puts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic inherited retinal dystrophies; data support a role for impaired ubiquitination in the pathogenetic mechanism of RCBTB1 mutations | Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E., Free PMC Article | 05/13/2017 |
| Results identified RCBTB1 as a gene associated with vitreoretinopathy and found that it plays a role in retinal angiogenesis through Norrin-induced beta-catenin signaling. | Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
Wu JH, Liu JH, Ko YC, Wang CT, Chung YC, Chu KC, Liu TT, Chao HM, Jiang YJ, Chen SJ, Chung MY. | 12/17/2016 |
| Study identifies RCBTB1 as a modifier of the smoking effect on carotid intima-media thickness. | Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness.
Wang L, Rundek T, Beecham A, Hudson B, Blanton SH, Zhao H, Sacco RL, Dong C., Free PMC Article | 02/22/2014 |
| Data show that the biological actions of Clld7 are consistent with those of a tumor suppressor. | Clld7, a candidate tumor suppressor on chromosome 13q14, regulates pathways of DNA damage/repair and apoptosis.
Zhou X, Münger K., Free PMC Article | 02/12/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.
Genuneit J, Cantelmo JL, Weinmayr G, Wong GW, Cooper PJ, Riikjärv MA, Gotua M, Kabesch M, von Mutius E, Forastiere F, Crane J, Nystad W, El-Sharif N, Batlles-Garrido J, García-Marcos L, García-Hernández G, Morales-Suarez-Varela M, Nilsson L, Bråbäck L, Saraçlar Y, Weiland SK, Cookson WO, Strachan D, Moffatt MF, ISAAC Phase 2 Study Group. | 04/7/2010 |
| E4.5 gene, which maps at chromosome band 13q14.3, encodes for a 4 kb mRNA expressed in various tissues and has an open reading frame of 531 amino acids. It has a potential role in the pathogenesis of chronic lymphocytic leukemia [E4.5] | 13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a novel chromosome condensation regulator-like guanine nucleotide exchange factor.
Solomou EE, Sfikakis PP, Kotsi P, Papaioannou M, Karali V, Vervessou E, Hoffbrand AV, Panayiotidis P. | 01/21/2010 |