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284 results

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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (s …
Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcriptio …
Methylation-mediated silencing of EDN3 promotes cervical cancer proliferation, migration and invasion.
Zhu P, Li X, Liu Y, Xiong J, Yuan D, Chen Y, Luo L, Huang J, Wang B, Nie Q, Wang S, Dang L, Li S, Shu Y, Zhang W, Zhou H, Fan L, Li Q. Zhu P, et al. Front Oncol. 2023 Feb 3;13:1010132. doi: 10.3389/fonc.2023.1010132. eCollection 2023. Front Oncol. 2023. PMID: 36824133 Free PMC article.
The further analysis in GSE63514 (n=128) dataset and in our samples (n=221) found that the expression of EDN3 was decreased with the degree of cervical lesions. Pyrosequencing was performed to evaluate 4 CpG sites of the EDN3 promoter region in our samples (n=469). …
The further analysis in GSE63514 (n=128) dataset and in our samples (n=221) found that the expression of EDN3 was decreased with the …
The immunosuppressive role of Edn3 overexpression in the melanoma microenvironment.
Freitas JT, Lopez J, Llorian C, Boroni M, Kos L. Freitas JT, et al. Pigment Cell Melanoma Res. 2021 Nov;34(6):1084-1093. doi: 10.1111/pcmr.13002. Epub 2021 Jul 29. Pigment Cell Melanoma Res. 2021. PMID: 34288510
To identify which stromal cells in the melanoma microenvironment respond to endothelin, we injected murine melanoma cell lines B16F10, YUMM1.7, and YUMMER1.7 in a transgenic mouse that overexpresses endothelin 3 (Edn3) under the control of the keratin 5 promoter in the ski …
To identify which stromal cells in the melanoma microenvironment respond to endothelin, we injected murine melanoma cell lines B16F10, YUMM1 …
EDNRB/EDN3 and Hirschsprung disease type II.
McCallion AS, Chakravarti A. McCallion AS, et al. Pigment Cell Res. 2001 Jun;14(3):161-9. doi: 10.1034/j.1600-0749.2001.140305.x. Pigment Cell Res. 2001. PMID: 11434563 Review.
Mutations in the genes encoding the endothelin type-B receptor (EDNRB) and its physiological ligand endothelin 3 (EDN3) are now known to account for the majority of HSCR II patients. Null mutations in the mouse genes Ednrb and Edn3 have identified a key role for thi …
Mutations in the genes encoding the endothelin type-B receptor (EDNRB) and its physiological ligand endothelin 3 (EDN3) are now known …
Stemness-associated WNT3A and EDN3 as key regulators of tumor progression and immunotherapy efficacy in LUAD.
Yuan Y, Jin X, Ma L, Sun Q, Zhang L. Yuan Y, et al. Int J Surg. 2025 Nov 1;111(11):7886-7897. doi: 10.1097/JS9.0000000000003029. Epub 2025 Jul 22. Int J Surg. 2025. PMID: 40696931 Free PMC article.
METHODS: Differential expression analysis, WGCNA, and survival analysis were used to study WNT3A and EDN3 in LUAD. GSEA was performed to explore biological pathways associated with WNT3A. ...Immunotherapy analysis showed better response rates in patients with high WNT3A ex …
METHODS: Differential expression analysis, WGCNA, and survival analysis were used to study WNT3A and EDN3 in LUAD. GSEA was performed …
Frequent loss of endothelin-3 (EDN3) expression due to epigenetic inactivation in human breast cancer.
Wiesmann F, Veeck J, Galm O, Hartmann A, Esteller M, Knüchel R, Dahl E. Wiesmann F, et al. Breast Cancer Res. 2009;11(3):R34. doi: 10.1186/bcr2319. Epub 2009 Jun 15. Breast Cancer Res. 2009. PMID: 19527488 Free PMC article.
EDN3 mRNA expression in breast cancer was further validated by real-time polymerase chain reaction (PCR) (n = 77). ...Reversion of the epigenetic lock by 5-aza-2'-deoxycytidine and trichostatin A resulted in EDN3 mRNA re-expression in vitro. Furthermore, EDN3
EDN3 mRNA expression in breast cancer was further validated by real-time polymerase chain reaction (PCR) (n = 77). ...Reversion of th
Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease.
Gunadi, Vujira KA, Amadeus VC, Gabriela GC, Amaragati AR, Geometri ET, Eryvinka LS, Ferdinandus KE, Pramono NA, Dwihantoro A. Gunadi, et al. Curr Pediatr Rev. 2025 Jan 22. doi: 10.2174/0115733963343518241223193627. Online ahead of print. Curr Pediatr Rev. 2025. PMID: 39844409
At least 35 genes have been responsible for HSCR, including EDNRB and EDN3. Here, we aimed to determine the EDRNB and EDN3 expressions effects in HSCR subjects. ...CONCLUSION: We report the downregulated EDNRB and EDN3 expressions in HSCR subjects, indicating …
At least 35 genes have been responsible for HSCR, including EDNRB and EDN3. Here, we aimed to determine the EDRNB and EDN3 exp …
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A. Otręba M, et al. Postepy Hig Med Dosw (Online). 2013 Nov 26;67:1109-18. doi: 10.5604/17322693.1077722. Postepy Hig Med Dosw (Online). 2013. PMID: 24379252 Review. Polish.
For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV. In turn, mutation of the KIT gene and/or heterozygous deletion of the SNAI2 gen …
For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and S …
Improving cellular fitness of human stem cell-derived islets under hypoxia.
Wang X, Brielle S, Kenty-Ryu J, Korover N, Bavli D, Pop R, Melton DA. Wang X, et al. Nat Commun. 2025 May 23;16(1):4787. doi: 10.1038/s41467-025-59924-7. Nat Commun. 2025. PMID: 40404627 Free PMC article.
We further identified genes important for maintaining beta cell fitness in hypoxia, with EDN3 as a potent player. Elevated EDN3 expression preserves beta cell identity and function in hypoxia by modulating genes involved in beta cell maturation, glucose sensing and …
We further identified genes important for maintaining beta cell fitness in hypoxia, with EDN3 as a potent player. Elevated EDN3
284 results