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1999 1
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Page 1
Novel TENM3-ALK fusion is an alternate mechanism for ALK activation in neuroblastoma.
Hiwatari M, Seki M, Matsuno R, Yoshida K, Nagasawa T, Sato-Otsubo A, Yamamoto S, Kato M, Watanabe K, Sekiguchi M, Miyano S, Ogawa S, Takita J. Hiwatari M, et al. Oncogene. 2022 May;41(20):2789-2797. doi: 10.1038/s41388-022-02301-1. Epub 2022 Apr 11. Oncogene. 2022. PMID: 35411036
In this study, a translocation within chromosome 2p and 4q was found to bring about the formation of an in-frame fusion gene that was composed of portions of the teneurin transmembrane protein 3 (TENM3, also known as ODZ3) gene and the anaplastic lymphoma kinase (ALK) gene …
In this study, a translocation within chromosome 2p and 4q was found to bring about the formation of an in-frame fusion gene that was compos …
Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
Gholami Yarahmadi S, Sarlaki F, Morovvati S. Gholami Yarahmadi S, et al. Clin Case Rep. 2022 Mar 8;10(3):e05532. doi: 10.1002/ccr3.5532. eCollection 2022 Mar. Clin Case Rep. 2022. PMID: 35280100 Free PMC article.
This investigation revealed a homozygous c.5069-1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. ...
This investigation revealed a homozygous c.5069-1G>C variation in TENM3 gene although has not been reported for its pathogenicity …
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P. Chassaing N, et al. Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667. Epub 2016 Apr 22. Am J Med Genet A. 2016. PMID: 27103084
In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third …
In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) wa …
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.
Singh B, Srivastava P, Phadke SR. Singh B, et al. Eur J Med Genet. 2019 Jan;62(1):61-64. doi: 10.1016/j.ejmg.2018.05.004. Epub 2018 May 9. Eur J Med Genet. 2019. PMID: 29753094
Here, we report a propositus with eye anomalies and intellectual disability associated with TENM3 pathogenic variations identified by exome sequencing and confirms intellectual disability as a phenotype associated with TENM3 variations. This child was compound heter …
Here, we report a propositus with eye anomalies and intellectual disability associated with TENM3 pathogenic variations identified by …
Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases.
Lu F, Xu X, Zheng B, Wang C, Zhou W, Tang J, Zhao X. Lu F, et al. Front Pediatr. 2023 Feb 24;11:1111771. doi: 10.3389/fped.2023.1111771. eCollection 2023. Front Pediatr. 2023. PMID: 36911040 Free PMC article.
To date, only eight syndromic and non-syndromic microphthalmia cases with recessive TENM3 variants have been reported. Herein, we report two unrelated new cases with biallelic variants in TENM3, widening the molecular and clinical spectrum. ...The presence of microc …
To date, only eight syndromic and non-syndromic microphthalmia cases with recessive TENM3 variants have been reported. Herein, we rep …
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
Zhou Y, Xu K, Gu W, Huang Y. Zhou Y, et al. Mol Genet Genomic Med. 2022 Jun;10(6):e1948. doi: 10.1002/mgg3.1948. Epub 2022 Apr 9. Mol Genet Genomic Med. 2022. PMID: 35397152 Free PMC article.
BACKGROUND: Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. ...RESULTS: Exome sequencing and genome copy number sequencing showed the presence of L1471F and E661G compound mutations in TENM3, which were inherited from the mother and f …
BACKGROUND: Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. ...RESULTS: Exome sequencing and genome c …
Teneurin-3 regulates the generation of non-image-forming visual circuitry and responsiveness to light in the suprachiasmatic nucleus.
Hunyara JL, Daly KM, Torres K, Yurgel ME, Komal R, Hattar S, Kolodkin AL. Hunyara JL, et al. PLoS Biol. 2023 Dec 4;21(12):e3002412. doi: 10.1371/journal.pbio.3002412. eCollection 2023 Dec. PLoS Biol. 2023. PMID: 38048352 Free PMC article.
Since Tenm3 is required for other aspects of mammalian visual system development, we investigate roles for Tenm3 in regulating ipRGC-SCN connectivity and function. ...Specifically, in Tenm3-/- mice, we find a reduction in ventro-medial innervation to the SCN. …
Since Tenm3 is required for other aspects of mammalian visual system development, we investigate roles for Tenm3 in regulating …
COVID-19 in pediatrics: Genetic susceptibility.
Glessner JT, Chang X, Mentch F, Qu H, Abrams DJ, Thomas A, Sleiman PMA, Hakonarson H. Glessner JT, et al. Front Genet. 2022 Aug 16;13:928466. doi: 10.3389/fgene.2022.928466. eCollection 2022. Front Genet. 2022. PMID: 36051697 Free PMC article.
Our findings support the notion that some genetic variants, most notably at the SEMA6D, FMN1, ACTN1, PDS5B, NFIA, ADGRL3, MMP27, TENM3, SPRY4, MNS1, and RSU1 loci, play a role in COVID-19 infection susceptibility. ...
Our findings support the notion that some genetic variants, most notably at the SEMA6D, FMN1, ACTN1, PDS5B, NFIA, ADGRL3, MMP27, TENM3 …
65 results