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A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature.
Venable ER, Gagnon MF, Pitel BA, Palmer JM, Peterson JF, Baughn LB, Hoppman NL, Greipp PT, Ketterling RP, Patnaik MS, Kelemen K, Xu X. Venable ER, et al. Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006243. doi: 10.1101/mcs.a006243. Print 2023 Feb. Cold Spring Harb Mol Case Stud. 2023. PMID: 36627146 Free PMC article. Review.
Further analysis with mate-pair sequencing (MPseq) confirmed a TRIP11::FLT3 gene fusion. A diagnosis of MLN-TK was rendered. To the best of our knowledge, we report the third case of MLN-TK with a TRIP11::FLT3 gene fusion. ...
Further analysis with mate-pair sequencing (MPseq) confirmed a TRIP11::FLT3 gene fusion. A diagnosis of MLN-TK was rendered. To the b …
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E. Wehrle A, et al. JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701. JCI Insight. 2019. PMID: 30728324 Free PMC article.
Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. TRIP11 encodes Golgi-associated microtubule-binding protein 210 (GMAP-210), an ess …
Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenes …
Disruption of Trip11 in cranial neural crest cells is associated with increased ER and Golgi stress contributing to skull defects in mice.
Yamaguchi H, Meyer MD, He L, Komatsu Y. Yamaguchi H, et al. Dev Dyn. 2022 Jul;251(7):1209-1222. doi: 10.1002/dvdy.461. Epub 2022 Feb 18. Dev Dyn. 2022. PMID: 35147267 Free PMC article.
BACKGROUND: Absence of Golgi microtubule-associated protein 210 (GMAP210), encoded by the TRIP11 gene, results in achondrogenesis. Although TRIP11 is thought to be specifically required for chondrogenesis, human fetuses with the mutation of TRIP11 also displa …
BACKGROUND: Absence of Golgi microtubule-associated protein 210 (GMAP210), encoded by the TRIP11 gene, results in achondrogenesis. Al …
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
Yeter B, Dilruba Aslanger A, Yeşil G, Elçioğlu NH. Yeter B, et al. J Clin Res Pediatr Endocrinol. 2022 Dec 1;14(4):475-480. doi: 10.4274/jcrpe.galenos.2021.2021.0099. Epub 2021 Jun 11. J Clin Res Pediatr Endocrinol. 2022. PMID: 34111908 Free PMC article.
ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor 11 gene (TRIP11; OMIM *604505). The TRIP11 gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), which is an …
ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor …
Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.
Qian Y, Hu G, Chen M, Liu B, Yan K, Zhou C, Yu Y, Dong M. Qian Y, et al. Am J Med Genet A. 2021 Aug;185(8):2482-2487. doi: 10.1002/ajmg.a.62260. Epub 2021 May 20. Am J Med Genet A. 2021. PMID: 34014608
Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosomal recessive achondrogenesis type IA (ACG1A, OMIM: 200600) or osteochondrodysplasia (ODCD, OMIM: 184260). ...To test this, we used high-prec …
Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosom …
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R. Medina CTN, et al. Am J Med Genet A. 2020 Apr;182(4):681-688. doi: 10.1002/ajmg.a.61460. Epub 2020 Jan 5. Am J Med Genet A. 2020. PMID: 31903676
Here we present two patients reflecting the phenotypic spectrum related to different TRIP11 variants. The first is a female child with ODCD, for whom a homozygous in-frame splicing mutation in intron 9 of TRIP11 was identified. The mutation appears to lead to the ex …
Here we present two patients reflecting the phenotypic spectrum related to different TRIP11 variants. The first is a female child wit …
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM. Upadhyai P, et al. Hum Mutat. 2021 Aug;42(8):1005-1014. doi: 10.1002/humu.24235. Epub 2021 Jun 8. Hum Mutat. 2021. PMID: 34057271
Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). ...The TRIP11 messenger RNA and protein levels were drastically reduced in fibrobla …
Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) causes the lethal …
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.
Costantini A, Valta H, Suomi AM, Mäkitie O, Taylan F. Costantini A, et al. Front Genet. 2021 Jun 2;12:680838. doi: 10.3389/fgene.2021.680838. eCollection 2021. Front Genet. 2021. PMID: 34149817 Free PMC article.
Exome sequencing and bioinformatic analysis revealed an oligogenic inheritance of a heterozygous nonsense mutation in TRIP11 and four likely pathogenic missense variants in FKBP10, TBX5, NEK1, and NBAS in the index patient. ...In contrast, the fetus was found homozygous fo …
Exome sequencing and bioinformatic analysis revealed an oligogenic inheritance of a heterozygous nonsense mutation in TRIP11 and four …
TRIP11-PDGFRB fusion in a patient with a therapy-related myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.
Kim HG, Jang JH, Koh EH. Kim HG, et al. Mol Cytogenet. 2014 Dec 23;7(1):103. doi: 10.1186/s13039-014-0103-6. eCollection 2014. Mol Cytogenet. 2014. PMID: 25606057 Free PMC article.
Sequencing of RT-PCR products revealed fusion between exon 16 of TRIP11 and exon 11 of PDGFRB. However, the KIAA1509-PDGFRB fusion was not detected by RT-PCR. CONCLUSION: We firstly demonstrated that therapy-related myeloid neoplasm with TRIP11-PDGFRB fusion was ide …
Sequencing of RT-PCR products revealed fusion between exon 16 of TRIP11 and exon 11 of PDGFRB. However, the KIAA1509-PDGFRB fusion wa …
A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia.
Chung A, Hou Y, Ohgami RS, Von Gehr A, Fisk DG, Roskin KM, Li X, Gojenola L, Bangs CD, Arber DA, Fire AZ, Cherry AM, Zehnder JL, Gotlib J, Merker JD. Chung A, et al. Cancer Genet. 2017 Oct;216-217:10-15. doi: 10.1016/j.cancergen.2017.05.001. Epub 2017 May 10. Cancer Genet. 2017. PMID: 29025582
Cytogenetic analysis revealed a t(13;14)(q12;q32), which was subsequently molecularly characterized as a novel TRIP11-FLT3 rearrangement. A KIT D816V mutation was also identified. The patient rapidly transformed to T-lymphoblastic leukemia/lymphoma and expired shortly afte …
Cytogenetic analysis revealed a t(13;14)(q12;q32), which was subsequently molecularly characterized as a novel TRIP11-FLT3 rearrangem …
74 results