| A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas. | A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.
Bartolotti I, Sobul K, Corsini S, Scognamiglio D, Moroni A, Gnoli M, Sangiorgi L, Pedrini E., Free PMC Article | 10/5/2024 |
| Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates. | Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
Wang Y, Huang Y, Zhu H, Guo Z, Cheng J, Zhang C, Zhong M., Free PMC Article | 08/12/2024 |
| The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness. | The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness.
Solaimuthu B, Khatib A, Tanna M, Karmi A, Hayashi A, Abu Rmaileh A, Lichtenstein M, Takoe S, Jolly MK, Shaul YD., Free PMC Article | 01/27/2024 |
| Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy. | Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy.
Ye T, Jiang M, Zeng X, Zong D, Du Y, Li X, Huang B, Tang X., Free PMC Article | 01/8/2024 |
| Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling. | Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling.
Pfeifer V, Weber H, Wang Y, Schlesinger M, Gorzelanny C, Bendas G., Free PMC Article | 03/31/2023 |
| Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family. | Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.
Ajmal M, Muhammad H, Nasir M, Shoaib M, Malik SA, Ullah I., Free PMC Article | 01/28/2023 |
| Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family. | Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.
Li J, Wang Z, Han Y, Jin C, Cheng D, Zhou YA, Zhen J., Free PMC Article | 06/18/2022 |
| Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan. | Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
Iwakura T, Ema C, Isobe S, Fujikura T, Ohashi N, Kato A, Yasuda H., Free PMC Article | 03/26/2022 |
| Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis. | Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
Wada Y, Iyoda M, Suzuki T, Tachibana S, Kanazawa N, Matsumoto K, Honda H. | 11/27/2021 |
| Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma. | Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
Yuan G, Su Q, Liao W, Hou W, Huang L, Wang P, Wu H., Free PMC Article | 10/2/2021 |
| In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes. | In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
Ravindran A, Casal Moura M, Fervenza FC, Nasr SH, Alexander MP, Fidler ME, Herrera Hernandez LP, Zhang P, Grande JP, Cornell LD, Gross LA, Negron V, Jenson GE, Madden BJ, Charlesworth MC, Sethi S., Free PMC Article | 09/25/2021 |
| EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non-small cell lung carcinoma via WNT signalling pathway. | EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non-small cell lung carcinoma via WNT signalling pathway.
Kong W, Chen Y, Zhao Z, Zhang L, Lin X, Luo X, Wang S, Song Z, Lin X, Lai G, Yu Z., Free PMC Article | 09/25/2021 |
| Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas. | Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
Tong Y, Zhang Y, Luo J, Hong Z, Chen X, Bi Q. | 07/17/2021 |
| Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. | Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z, Al-Rijjal RA, Al-Ghofaili L, BinEssa HA, Pant R, Alrabiah A, Al-Hussainan T, Zou M, Meyer BF, Shi Y., Free PMC Article | 07/3/2021 |
| Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing. | Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
Liang C, Wang YJ, Wei YX, Dong Y, Zhang ZC., Free PMC Article | 12/19/2020 |
| Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation. | Exostosin-1 enhances canonical Wnt signaling activity during chondrogenic differentiation.
Wang X, Cornelis FMF, Lories RJ, Monteagudo S. | 09/26/2020 |
| Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection. | A Genome-Wide Haploid Genetic Screen Identifies Heparan Sulfate-Associated Genes and the Macropinocytosis Modulator TMED10 as Factors Supporting Vaccinia Virus Infection.
Luteijn RD, van Diemen F, Blomen VA, Boer IGJ, Manikam Sadasivam S, van Kuppevelt TH, Drexler I, Brummelkamp TR, Lebbink RJ, Wiertz EJ., Free PMC Article | 06/27/2020 |
| EXT1- or miR-665-targeted strategies can confer the therapeutic effect of promoting apoptosis by deactivating the ERK1/2 pathway. | EXT1, Regulated by MiR-665, Promotes Cell Apoptosis via ERK1/2 Signaling Pathway in Acute Lymphoblastic Leukemia.
Liu NW, Huang X, Liu S, Lu Y., Free PMC Article | 01/25/2020 |
| identification of mutations in EXT1 and EXT2 in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO); five patients, representing the first report of genetic screening of HMO affected individuals in the Cypriot population are described | Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
Tanteles GA, Nicolaou M, Neocleous V, Shammas C, Loizidou MA, Alexandrou A, Ellina E, Patsia N, Sismani C, Phylactou LA, Christophidou-Anastasiadou V. | 09/7/2019 |
| Mutations of the EXT1 and EXT2 genes probably underlie the hereditary multiple exostosis in both pedigrees | [Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis].
Bai Y, Liu N, Hu S, Wu Q, Kong X. | 08/17/2019 |
| In a family with Multiple Osteochondromas a heterozygous mutation (c.1056G>T) was identified in exon 2 of the EXT1 gene in the proband and other affected family members; this mutation was not found in the unaffected family members. | A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.
Chen Z, Bi Q, Kong M, Chen Y. | 07/20/2019 |
| Mutations in EXT1 c.79 T>A and c.1284 + 8 delAT are associated with hereditary multiple exostosis (HME) in Chinese patients | The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis.
Wu ZY, Wang Y, Wang JW, Chen YZ, Guo Y. | 06/29/2019 |
| Heterozygous splice mutation in exostosin glycosyltransferase 1 (EXT1) gene is identified in a threegeneration family with hereditary multiple exostoses (HME).The expression of wildtype EXT1/EXT2 mRNA in patients with HME is decreased comparing with normal control participants. The truncated peptide produced from the abnormally spliced transcript is expressed in the cytoplasm without degradation. | A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses.
Guo X, Lin M, Yan W, Chen W, Hong G., Free PMC Article | 05/25/2019 |
| The present study identified pathogenic mutations in 93% (68/73) of unrelated hereditary multiple osteochondromasprobands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families. | Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y, Wang J, Tang J, Wang Z, Han B, Li N, Yu T, Chen Y, Fu Q., Free PMC Article | 11/10/2018 |
| Exons and flanking regions of the EXT1 and EXT2 genes were analyzed from the genomic DNA of 153 patients in 114 families with multiple osteochondromas. We identified 33 variants in EXT1 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2 gene. Of all 50 variants, 31 (62%) were novel. | Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Santos SCL, Rizzo IMPO, Takata RI, Speck-Martins CE, Brum JM, Sollaci C., Free PMC Article | 10/20/2018 |