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2021 11
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Integrated Single-Cell Atlas of Endothelial Cells of the Human Lung.
Schupp JC, Adams TS, Cosme C Jr, Raredon MSB, Yuan Y, Omote N, Poli S, Chioccioli M, Rose KA, Manning EP, Sauler M, DeIuliis G, Ahangari F, Neumark N, Habermann AC, Gutierrez AJ, Bui LT, Lafyatis R, Pierce RW, Meyer KB, Nawijn MC, Teichmann SA, Banovich NE, Kropski JA, Niklason LE, Pe'er D, Yan X, Homer RJ, Rosas IO, Kaminski N. Schupp JC, et al. Circulation. 2021 Jul 27;144(4):286-302. doi: 10.1161/CIRCULATIONAHA.120.052318. Epub 2021 May 25. Circulation. 2021. PMID: 34030460 Free PMC article.
Beyond the broad cellular categories of lymphatic, capillary, arterial, and venous ECs, we found previously indistinguishable subpopulations; among venous EC, we identified 2 previously indistinguishable populations: pulmonary-venous ECs (COL15A1(neg)) localized to the lung paren …
Beyond the broad cellular categories of lymphatic, capillary, arterial, and venous ECs, we found previously indistinguishable subpopulations …
An iron-rich subset of macrophages promotes tumor growth through a Bach1-Ednrb axis.
Folkert IW, Molina Arocho WA, To TKJ, Devalaraja S, Molina IS, Shoush J, Mohei H, Zhai L, Akhtar MN, Kochat V, Arslan E, Lazar AJ, Wani K, Israel WP, Zhang Z, Chaluvadi VS, Norgard RJ, Liu Y, Fuller AM, Dang MT, Roses RE, Karakousis GC, Miura JT, Fraker DL, Eisinger-Mathason TSK, Simon MC, Weber K, Tan K, Fan Y, Rai K, Haldar M. Folkert IW, et al. J Exp Med. 2024 Oct 7;221(10):e20230420. doi: 10.1084/jem.20230420. Epub 2024 Sep 30. J Exp Med. 2024. PMID: 39347789 Free PMC article.
These iron-rich tumor-associated macrophages (iTAMs) supported angiogenesis and immunosuppression in the tumor microenvironment and were conserved between mice and humans. iTAMs comprise two additional subsets based on gene expression profile and location-perivascular (pviTAM) an …
These iron-rich tumor-associated macrophages (iTAMs) supported angiogenesis and immunosuppression in the tumor microenvironment and were con …
Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.
Xiao J, Hao LW, Wang J, Yu XS, You JY, Li ZJ, Mao HD, Meng XY, Feng JX. Xiao J, et al. World J Pediatr. 2023 Jul;19(7):644-651. doi: 10.1007/s12519-023-00686-x. Epub 2023 Mar 1. World J Pediatr. 2023. PMID: 36857021 Free PMC article. Review.
The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. ...
The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families …
Multiomic and clinical analysis of multiply recurrent meningiomas reveals risk factors, underlying biology, and insights into evolution.
Pugazenthi S, Patel B, English CW, Leidig WA, McGeehan KP, McCornack CR, Mok S, Anzaldua-Campos M, Nouri SH, Roberts K, Chatrath A, Khan A, Gadot R, Yano H, Klisch TJ, Harmanci AS, Patel AJ, Kim AH. Pugazenthi S, et al. Sci Adv. 2024 Oct 25;10(43):eadn4419. doi: 10.1126/sciadv.adn4419. Epub 2024 Oct 23. Sci Adv. 2024. PMID: 39441930 Free PMC article.
Multiomic analysis of primary meningiomas revealed that MRMs have greater copy number losses (P = 0.0313) and increased DNA methylation (P = 0.0155). In meningioma cells with knockdown of EDNRB, a locus with greater promoter methylation and decreased gene expression in MRM …
Multiomic analysis of primary meningiomas revealed that MRMs have greater copy number losses (P = 0.0313) and increased DNA methylation (P = …
Endothelin-3 is epigenetically silenced in endometrioid endometrial cancer.
Zmarzły N, Januszyk S, Mieszczański P, Morawiec E, Buda P, Dziobek K, Opławski M, Boroń D. Zmarzły N, et al. J Cancer Res Clin Oncol. 2023 Aug;149(9):5687-5696. doi: 10.1007/s00432-022-04525-w. Epub 2022 Dec 21. J Cancer Res Clin Oncol. 2023. PMID: 36542159 Free PMC article.
RESULTS: EDN1 and EDNRA were overexpressed regardless of endometrial cancer grade, which may be due to the lack of regulatory effect of miR-130a-3p and miR-485-3p, respectively. In addition, EDN3 and EDNRB were significantly downregulated. CONCLUSION: The endothelial axis …
RESULTS: EDN1 and EDNRA were overexpressed regardless of endometrial cancer grade, which may be due to the lack of regulatory effect of miR- …
EDNRB negatively regulates glycolysis to exhibit anti-tumor functions in prostate cancer by cGMP/PKG pathway.
Li X, Liu B, Wang S, Dong Q, Li J. Li X, et al. Mol Cell Endocrinol. 2025 Mar 1;598:112459. doi: 10.1016/j.mce.2025.112459. Epub 2025 Jan 7. Mol Cell Endocrinol. 2025. PMID: 39788311
Overexpression of EDNRB or EDN3 led to reduced cell proliferation and downregulation of glycolytic markers. ...Additionally, the anticancer effects of EDNRB or EDN3 was reversed upon inhibition of the cGMP/PKG pathway. In vivo, enhanced EDNRB expression signi …
Overexpression of EDNRB or EDN3 led to reduced cell proliferation and downregulation of glycolytic markers. ...Additionally, the anti …
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
AitRaise I, Amalou G, Bousfiha A, Charoute H, Rouba H, Abdelghaffar H, Bonnet C, Petit C, Barakat A. AitRaise I, et al. Mol Biol Rep. 2022 May;49(5):3949-3954. doi: 10.1007/s11033-022-07245-z. Epub 2022 Mar 17. Mol Biol Rep. 2022. PMID: 35301649
THE RESULTS: The results of four out of the six families revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB responsible for non-syndromic and syndromic hearing loss. Multiple Bioinformatics programs and molecular modelling predicted the pathogenic …
THE RESULTS: The results of four out of the six families revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB …
Epigenetic alteration of smooth muscle cells regulates endothelin-dependent blood pressure and hypertensive arterial remodeling.
Mangum KD, Li Q, Hartmann K, Bauer TM, Wolf SJ, Shadiow J, Moon JY, Barrett EC, Joshi AD, Saldana de Jimenez G, Ahmed Z, Wasikowski R, Boyer K, Obi AT, Davis FM, Chang L, Tsoi LC, Gudjonsson J, Damrauer SM, Gallagher KA. Mangum KD, et al. J Clin Invest. 2025 Mar 27;135(11):e186146. doi: 10.1172/JCI186146. eCollection 2025 Jun 2. J Clin Invest. 2025. PMID: 40146226 Free PMC article.
Using our unique SMC-specific Jmjd3-deficient murine model (Jmjd3fl/flMyh11CreERT), we show that loss of Jmjd3 in SMCs results in HTN due to decreased endothelin receptor B (EDNRB) expression and increased endothelin receptor A (EDNRA) expression. Importantly, the EDNRA an …
Using our unique SMC-specific Jmjd3-deficient murine model (Jmjd3fl/flMyh11CreERT), we show that loss of Jmjd3 in SMCs results in HTN due to …
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Lee CY, Lo MY, Chen YM, Lin PH, Hsu CJ, Chen PL, Wu CC, Hsu JS. Lee CY, et al. Mol Genet Genomic Med. 2022 Dec;10(12):e2082. doi: 10.1002/mgg3.2082. Epub 2022 Nov 4. Mol Genet Genomic Med. 2022. PMID: 36331148 Free PMC article.
Of these variants, nine were novel and discovered in PAX3, SOX10, EDNRB, and MITF genes, including missense, nonsense, deletion, and splice site variants. ...
Of these variants, nine were novel and discovered in PAX3, SOX10, EDNRB, and MITF genes, including missense, nonsense, deletion, and …
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E, Liuni R, Jamontas R, Tesolin P, Morgan A, Girotto G, Roesch S, Dossena S. Bernardinelli E, et al. Mol Med. 2025 Mar 22;31(1):111. doi: 10.1186/s10020-025-01159-9. Mol Med. 2025. PMID: 40121402 Free PMC article.
ES of eleven undiagnosed patients with bilateral EVA detected rare sequence variants in six EVA-unrelated genes (monoallelic variants in SCD5, REST, EDNRB, TJP2, TMC1, and two variants in CDH23) in five patients (5/11, 45%). Cell-based assays showed that the TJP2 variant l …
ES of eleven undiagnosed patients with bilateral EVA detected rare sequence variants in six EVA-unrelated genes (monoallelic variants in SCD …
48 results