| POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern. | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C., Free PMC Article | 05/22/2021 |
| This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of Primary biliary cholangitis. | POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
Hitomi Y, Ueno K, Kawai Y, Nishida N, Kojima K, Kawashima M, Aiba Y, Nakamura H, Kouno H, Kouno H, Ohta H, Sugi K, Nikami T, Yamashita T, Katsushima S, Komeda T, Ario K, Naganuma A, Shimada M, Hirashima N, Yoshizawa K, Makita F, Furuta K, Kikuchi M, Naeshiro N, Takahashi H, Mano Y, Yamashita H, Matsushita K, Tsunematsu S, Yabuuchi I, Nishimura H, Shimada Y, Yamauchi K, Komatsu T, Sugimoto R, Sakai H, Mita E, Koda M, Nakamura Y, Kamitsukasa H, Sato T, Nakamuta M, Masaki N, Takikawa H, Tanaka A, Ohira H, Zeniya M, Abe M, Kaneko S, Honda M, Arai K, Arinaga-Hino T, Hashimoto E, Taniai M, Umemura T, Joshita S, Nakao K, Ichikawa T, Shibata H, Takaki A, Yamagiwa S, Seike M, Sakisaka S, Takeyama Y, Harada M, Senju M, Yokosuka O, Kanda T, Ueno Y, Ebinuma H, Himoto T, Murata K, Shimoda S, Nagaoka S, Abiru S, Komori A, Migita K, Ito M, Yatsuhashi H, Maehara Y, Uemoto S, Kokudo N, Nagasaki M, Tokunaga K, Nakamura M., Free PMC Article | 01/25/2020 |
| RUMI is a novel negative prognostic factor with significant therapeutic potential in non-small-cell lung cancer. | RUMI is a novel negative prognostic marker and therapeutic target in non-small-cell lung cancer.
Chammaa M, Malysa A, Redondo C, Jang H, Chen W, Bepler G, Fernandez-Valdivia R., Free PMC Article | 10/5/2019 |
| To conclude, we report a new heterozygous nonsense mutation in POGLUT1 predicted to result in a loss of function in two siblings with DD disease. | A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.
Duchatelet S, Clerc H, Machet L, Gaboriaud P, Miskinyte S, Kervarrec T, Hovnanian A. | 08/24/2019 |
| Case Report: Japanese female with Galli-Galli Disease due to novel POGLUT1 mutation. | A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.
Kono M, Sawada M, Nakazawa Y, Ogi T, Muro Y, Akiyama M. | 08/17/2019 |
| Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling. | Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Wu J, Hunt SD, Matthias N, Servián-Morilla E, Lo J, Jafar-Nejad H, Paradas C, Darabi R., Free PMC Article | 07/7/2018 |
| The data suggest that hCLP46(human CAP10-like protein 46 kDa) overexpression in colorectal cancer is associated with higher tumor-node-metastasis stage, lymph node metastasis, and shorter survival time. | Human CAP10-Like Protein 46 kDa Gene Promotes Malignancy in Colorectal Cancer.
Fang H, Chu Q, Zhang J, Wang H, Yu X, Ge S, Song M, Wu L, Lang M, Chang N, Wang Y, Wang W. | 02/24/2018 |
| These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 and POFUT1, to consider in diagnosis of GGD/DDD. | Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ., Free PMC Article | 10/14/2017 |
| These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch-dependent loss of satellite cells. | A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C., Free PMC Article | 09/16/2017 |
| hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation | hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation.
Xing Y, Chu Q, Feng R, Wang W, Liu L, Lu Z., Free PMC Article | 07/16/2016 |
| miR-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression | MicroRNA-134 suppresses endometrial cancer stem cells by targeting POGLUT1 and Notch pathway proteins.
Gao Y, Liu T, Huang Y. | 04/4/2015 |
| Mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were reported to be responsible for Dowling-Degos disease. | Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC., Free PMC Article | 03/1/2014 |
| overexpression of hCLP46 inhibited proliferation of 293TRexs and was correlated with increases in cyclin dependent kinase inhibitors p21 and p27, whereas reduced hCLP46 expression moderately increased cell proliferation. | Overexpression of hCLP46 enhances Notch activation and regulates cell proliferation in a cell type-dependent manner.
Chu Q, Liu L, Wang W., Free PMC Article | 07/27/2013 |
| lack of hCLP46 results in impaired ligand induced Notch activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI-RB signaling pathway, which may be important for the pathogenesis of leukemia. | hCLP46 regulates U937 cell proliferation via Notch signaling pathway.
Ma W, Du J, Chu Q, Wang Y, Liu L, Song M, Wang W. | 07/23/2011 |
| CLP46 was overexpressed in AML, T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch pathway, our finding adds weight to the possible importance of Notch signaling in the pathogenesis of AML and T-ALL. | Overexpression of human CAP10-like protein 46 KD in T-acute lymphoblastic leukemia and acute myelogenous leukemia.
Wang Y, Chang N, Zhang T, Liu H, Ma W, Chu Q, Lai Q, Liu L, Wang W. | 05/31/2010 |
| Altered C3ORF9 expression in myelodysplastic syndrome was possibly due to different gene regulation in these patients and/or to the increased CD34+ cells. | Abnormal expression of C3ORF9 gene in patients with myelodysplastic syndromes.
Karadonta AV, Alexandrakis MG, Kourelis TV, Manola A, Garlemou K, Stathakis NE, Kyriakou D, Karadonta AV, Alexandrakis MG, Kourelis TV, Manola A, Garlemou K, Stathakis NE, Kyriakou D. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Abnormal expression of C3ORF9 gene in patients with myelodysplastic syndromes.
Karadonta AV, Alexandrakis MG, Kourelis TV, Manola A, Garlemou K, Stathakis NE, Kyriakou D, Karadonta AV, Alexandrakis MG, Kourelis TV, Manola A, Garlemou K, Stathakis NE, Kyriakou D. | 12/2/2009 |