| Loss-of-function mutations in CEP78 cause male infertility in humans and mice. | Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Zhang X, Zheng R, Liang C, Liu H, Zhang X, Ma Y, Liu M, Zhang W, Yang Y, Liu M, Jiang C, Ren Q, Wang Y, Chen S, Yang Y, Shen Y., Free PMC Article | 10/15/2022 |
| A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes. | A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.
Lähteenoja L, Häkli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A. | 05/14/2022 |
| Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME., Free PMC Article | 02/5/2022 |
| CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. | CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
Gonçalves AB, Hasselbalch SK, Joensen BB, Patzke S, Martens P, Ohlsen SK, Quinodoz M, Nikopoulos K, Suleiman R, Damsø Jeppesen MP, Weiss C, Christensen ST, Rivolta C, Andersen JS, Farinelli P, Pedersen LB., Free PMC Article | 11/6/2021 |
| Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. | Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F., Free PMC Article | 07/24/2021 |
| Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures. | Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.
Huang X, Yan Y, Wei R, Liu H, Zhu X, Bi D, Wei Q, Yao X., Free PMC Article | 05/22/2021 |
| Low CEP78 expression is associated with differentiated thyroid carcinoma. | Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.
Hammad MO, Elabbasy LM, Abd Elghaffar MA, Zaki MMA, Bazeed FB, Zahran MA. | 12/7/2019 |
| Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. | CEP78 is mutated in a distinct type of Usher syndrome.
Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R., Free PMC Article | 11/25/2017 |
| we identify Cep78 as a new player that regulates centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by EDD-DYRK2-DDB1(Vpr)(BP). | Cep78 controls centrosome homeostasis by inhibiting EDD-DYRK2-DDB1(Vpr)(BP).
Hossain D, Javadi Esfehani Y, Das A, Tsang WY., Free PMC Article | 08/19/2017 |
| the interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process. | Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication.
Brunk K, Zhu M, Bärenz F, Kratz AS, Haselmann-Weiss U, Antony C, Hoffmann I. | 08/5/2017 |
| data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa | Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C., Free PMC Article | 05/6/2017 |
| truncating mutations in CEP78 result in a phenotype involving both the visual and auditory systems but different from typical Usher syndrome | Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D., Free PMC Article | 05/6/2017 |
| CEP78 functions as a tumor suppressor in colorectal cancer and low CEP78 expression leads to shorter survival in colorectal cancer patients. | Low expression of centrosomal protein 78 (CEP78) is associated with poor prognosis of colorectal cancer patients.
Zhang M, Duan T, Wang L, Tang J, Luo R, Zhang R, Kang T., Free PMC Article | 03/18/2017 |