| 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 |
| EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma. | EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma.
Selvan AJA, Kannan B, Pandi C, Jayaseelan VP, Arumugam P. | 03/4/2024 |
| Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy. | Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy.
Giambra M, Di Cristofori A, Conconi D, Marzorati M, Redaelli S, Zambuto M, Rocca A, Roumy L, Carrabba G, Lavitrano M, Roversi G, Giussani C, Bentivegna A., Free PMC Article | 02/17/2023 |
| Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT2 gene deletion mutation. | Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.
Wang W, Yang M, Shen Y, Chen K, Wu D, Yang C, Bai J, He D, Gao J., Free PMC Article | 04/16/2022 |
| 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 |
| Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. | Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.
Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S., Free PMC Article | 01/29/2022 |
| A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma. | A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.
Guo X, Chen S, Lin M, Pan Y, Liu N, Shi T. | 12/25/2021 |
| 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 |
| 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 |
| 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 |
| AREXT2 (autosomal recessive EXT2-related syndrome) can be considered as a multiorgan Congenital Disorder of Glycosylation caused by a significant, but non-lethal, decrease in EXT2 expression, thereby affecting the synthesis of the heparan sulfate proteoglycans, which is relevant in many physiological processes. | Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Gentile M, Agolini E, Cocciadiferro D, Ficarella R, Ponzi E, Bellacchio E, Antonucci MF, Novelli A. | 02/15/2020 |
| a novel frameshift mutation in EXT2 is identified in a fourth-generation Korean family with multiple osteochondromas | Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK. | 02/1/2020 |
| a heterozygous missense variation in the exon 1 and a heterozygous frameshift variation in exon 6 of EXT1 are associated with hereditary multiple exostosis | [Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis].
You Y, Li S, Yang B, Zhao X. | 09/28/2019 |
| 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 |
| A novel EXT2 mutation was identified in a family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia. | A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
El-Bazzal L, Atkinson A, Gillart AC, Obeid M, Delague V, Mégarbané A. | 04/6/2019 |
| 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 |
| RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma. | Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma Due to EXT1/2 and HS6ST1/2 Down-Regulation.
Ushakov VS, Tsidulko AY, de La Bourdonnaye G, Kazanskaya GM, Volkov AM, Kiselev RS, Kobozev VV, Kostromskaya DV, Gaytan AS, Krivoshapkin AL, Aidagulova SV, Grigorieva EV., Free PMC Article | 07/7/2018 |
| The nine mutations identified by targeted next-generation sequencing include two missense mutations (EXT1: c.1088G>A and c.2120C>T), one splicing mutation (EXT2: c.744-1G>T) | Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Guo X, Lin M, Shi T, Yan W, Chen W. | 06/30/2018 |
| Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines. | Polyamines release the let-7b-mediated suppression of initiation codon recognition during the protein synthesis of EXT2.
Imamura M, Higashi K, Yamaguchi K, Asakura K, Furihata T, Terui Y, Satake T, Maegawa J, Yasumura K, Ibuki A, Akase T, Nishimura K, Kashiwagi K, Linhardt RJ, Igarashi K, Toida T., Free PMC Article | 06/9/2018 |
| the present study identified a novel missense mutation (c.1385G>A) in exon 8 and a splicing mutation (c.725+1G>C) in intron 3 of the EXT2 gene, which are responsible for MO in certain Chinese patients. The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO. | Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
Xu Y, Kang Q, Zhang Z. | 05/12/2018 |
| Germline EXT2 mutation is associated with chondrosarcoma. | Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. | 07/22/2017 |