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HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
HECW2-related disorder has been established through the identification of de novo variants in HECW2 in patients with neurodevelopmental disorders with hypotonia, seizures, and absent language. ...All HECW2 variants, including those that were previously report …
HECW2-related disorder has been established through the identification of de novo variants in HECW2 in patients with neurodeve …
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Massive parallel sequencing was performed and identified individuals with a HECW2-related neurodevelopmental disorder. RESULTS: We identified 13 novel missense variants in HECW2 in 22 unpublished cases, of which 18 were confirmed to have a de novo variant. ...CONCLU …
Massive parallel sequencing was performed and identified individuals with a HECW2-related neurodevelopmental disorder. RESULTS: We id …
Circ_HECW2 regulates LPS-induced apoptosis of chondrocytes via miR-93 methylation.
Zuo J, Chen C, Zhang X, Wu J, Li C, Huang S, He P, Wa Q, Zhang W. Zuo J, et al. Immun Inflamm Dis. 2021 Sep;9(3):943-949. doi: 10.1002/iid3.453. Epub 2021 Jun 2. Immun Inflamm Dis. 2021. PMID: 34076365 Free PMC article.
Thus, we analyzed the role of Circ_HECW2 in osteoarthritis. METHODS: The expression of Circ_HECW2 and miR-93 was examined using reverse-transcription polymerase chain reaction. ...Cell apoptosis analysis showed that Circ_HECW2 overexpression increased LPS-ind …
Thus, we analyzed the role of Circ_HECW2 in osteoarthritis. METHODS: The expression of Circ_HECW2 and miR-93 was examined usin …
E3 ubiquitin ligase HECW2: a promising target for tumour therapy.
Shen H, Kou Q, Shao L, Zhang J, Li F. Shen H, et al. Cancer Cell Int. 2024 Nov 11;24(1):374. doi: 10.1186/s12935-024-03563-3. Cancer Cell Int. 2024. PMID: 39529070 Free PMC article. Review.
Among the enzymes involved in ubiquitination, E3 ubiquitin ligases are particularly significant, serving as key regulators of numerous diseases, including tumours. This review focuses on HECW2 (HECT, C2, and WW domain-containing E3 ubiquitin protein ligase 2, also known as …
Among the enzymes involved in ubiquitination, E3 ubiquitin ligases are particularly significant, serving as key regulators of numerous disea …
HECW2 promotes the progression and chemoresistance of colorectal cancer via AKT/mTOR signaling activation by mediating the ubiquitin-proteasome degradation of lamin B1.
Li F, Wang L, Wang Y, Shen H, Kou Q, Shen C, Xu X, Zhang Y, Zhang J. Li F, et al. J Cancer. 2023 Sep 4;14(15):2820-2832. doi: 10.7150/jca.87545. eCollection 2023. J Cancer. 2023. PMID: 37781079 Free PMC article.
We found that HECW2 is highly expressed in CRC tissues. HECW2 knockdown inhibits CRC progression and chemoresistance, whereas HECW2 overexpression has the opposite effect. ...Our findings suggest that HECW2 may be a promising novel therapeutic target f …
We found that HECW2 is highly expressed in CRC tissues. HECW2 knockdown inhibits CRC progression and chemoresistance, whereas …
Circ_HECW2 functions as a miR-30e-5p sponge to regulate LPS-induced endothelial-mesenchymal transition by mediating NEGR1 expression.
Dong Y, Fan X, Wang Z, Zhang L, Guo S. Dong Y, et al. Brain Res. 2020 Dec 1;1748:147114. doi: 10.1016/j.brainres.2020.147114. Epub 2020 Sep 9. Brain Res. 2020. PMID: 32916175
Nevertheless, the underlying mechanisms of circRNA HECW2 (circ_HECW2, hsa_circ_0057583) in lipopolysaccharide (LPS)-induced EndoMT remain largely unclear. ...Mechanistically, circ_HECW2 directly interacted with miR-30e-5p by binding to miR-30e-5p. MiR-30e-5p …
Nevertheless, the underlying mechanisms of circRNA HECW2 (circ_HECW2, hsa_circ_0057583) in lipopolysaccharide (LPS)-induced En …
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S. Imanishi R, et al. Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w. Hum Genome Var. 2023. PMID: 37280227 Free PMC article.
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with …
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language …
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.
Lu Q, Zhang MN, Shi XY, Zhang LQ, Wang YY, Liu LY, He W, Chen HM, He B, Zou LP. Lu Q, et al. Am J Med Genet A. 2021 Feb;185(2):377-383. doi: 10.1002/ajmg.a.61958. Epub 2020 Nov 18. Am J Med Genet A. 2021. PMID: 33205896
In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) (MIM# 617245) identified by screening 240 patients with DEE and summarized clinical features of published DEE patients …
In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquit …
A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability.
Krami AM, Bouzidi A, Charif M, Amalou G, Charoute H, Rouba H, Roky R, Lenaers G, Barakat A, Nahili H. Krami AM, et al. Eur J Med Genet. 2022 Jun;65(6):104515. doi: 10.1016/j.ejmg.2022.104515. Epub 2022 Apr 27. Eur J Med Genet. 2022. PMID: 35487419
HECW2 encodes an E3 ubiquitin-protein ligase that stabilizes and enhances transcriptional activity of p73, a key factor regulating proliferation, apoptosis, and neuronal differentiation, which are together essential for proper brain development. ...Thus this study describe …
HECW2 encodes an E3 ubiquitin-protein ligase that stabilizes and enhances transcriptional activity of p73, a key factor regulating pr …
73 results