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A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.
Zhang X, Tang C, Lian J, Jiang Y. Zhang X, et al. Can J Gastroenterol Hepatol. 2023 Nov 3;2023:5557546. doi: 10.1155/2023/5557546. eCollection 2023. Can J Gastroenterol Hepatol. 2023. PMID: 37954860 Free PMC article.
Multivariate analysis established A2ML1 as a novel independent prognostic factor for ESCC. Moreover, A2ML1 overexpression significantly inhibited ESCC cell proliferation and promoted apoptosis. ...Our findings demonstrate that a correlation exists between A2ML1 …
Multivariate analysis established A2ML1 as a novel independent prognostic factor for ESCC. Moreover, A2ML1 overexpression sign …
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics; Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP. Larson ED, et al. Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31009165 Free PMC article.
Sequencing of salivary RNA samples from indigenous Filipinos demonstrated lower A2ML1 expression according to the carriage of A2ML1 variants. Sequencing of additional salivary RNA samples from US patients with otitis media revealed differentially expressed genes tha …
Sequencing of salivary RNA samples from indigenous Filipinos demonstrated lower A2ML1 expression according to the carriage of A2ML …
Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.
Nielsen NS, Zarantonello A, Harwood SL, Jensen KT, Kjøge K, Thøgersen IB, Schauser L, Karlsen JL, Andersen GR, Enghild JJ. Nielsen NS, et al. Nat Commun. 2022 May 31;13(1):3033. doi: 10.1038/s41467-022-30758-x. Nat Commun. 2022. PMID: 35641520 Free PMC article.
A2ML1 is a monomeric protease inhibitor belonging to the A2M superfamily of protease inhibitors and complement factors. Here, we investigate the protease-inhibitory mechanism of human A2ML1 and determine the structures of its native and protease-cleaved conformation …
A2ML1 is a monomeric protease inhibitor belonging to the A2M superfamily of protease inhibitors and complement factors. Here, we inve …
Human PZP and common marmoset A2ML1 as pregnancy related proteins.
Kashiwagi H, Ishimoto H, Izumi SI, Seki T, Kinami R, Otomo A, Takahashi K, Kametani F, Hirayama N, Sasaki E, Shiina T, Sakabe K, Mikami M, Kametani Y. Kashiwagi H, et al. Sci Rep. 2020 Mar 20;10(1):5088. doi: 10.1038/s41598-020-61714-8. Sci Rep. 2020. PMID: 32198464 Free PMC article.
In humans, PZP accumulated at the maternal-foetal interface and A2ML1 accumulated in the amnion. Similarly, A2ML1 mRNA was detected in marmoset placenta. These proteins belong to the A2M family of protease inhibitors, and both PZP and A2ML1 share around 90% h …
In humans, PZP accumulated at the maternal-foetal interface and A2ML1 accumulated in the amnion. Similarly, A2ML1 mRNA was det …
The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media.
Elling CL, Gomez HZ, Lee NK, Hirsch SD, Santos-Cortez RLP. Elling CL, et al. Int J Pediatr Otorhinolaryngol. 2024 Jun;181:111980. doi: 10.1016/j.ijporl.2024.111980. Epub 2024 May 10. Int J Pediatr Otorhinolaryngol. 2024. PMID: 38759260
Traditionally, mouse models for OM rely on inducing acute infection through inoculation of the middle ear, e.g. with the human otopathogen non-typeable Haemophilus influenzae (NTHi), and with very few genetic models with spontaneous or chronic OM. A2ML1 variants, including …
Traditionally, mouse models for OM rely on inducing acute infection through inoculation of the middle ear, e.g. with the human otopathogen n …
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M. Brinkmann J, et al. Eur J Hum Genet. 2021 Mar;29(3):524-527. doi: 10.1038/s41431-020-00743-3. Epub 2020 Oct 20. Eur J Hum Genet. 2021. PMID: 33082526 Free PMC article.
In cases where parental DNA was available, the respective A2ML1 variant was found to be inherited from an unaffected parent. Seven index patients carrying an A2ML1 variant presented with an alternate disease-causing genetic aberration. These findings underscore that …
In cases where parental DNA was available, the respective A2ML1 variant was found to be inherited from an unaffected parent. Seven in …
Keratin 17 and A2ML1 are negative prognostic biomarkers in non-small cell lung cancer.
Babu S, Horowitz M, Delgado-Coka LA, Roa-Peña L, Akalin A, Escobar-Hoyos LF, Shroyer KR. Babu S, et al. Pathol Res Pract. 2024 Nov;263:155643. doi: 10.1016/j.prp.2024.155643. Epub 2024 Oct 3. Pathol Res Pract. 2024. PMID: 39413460 Free article.
Based on TCGA RNA-seq data, alpha-2-macroglobulin like 1 (A2ML1), a protease inhibitor, is highly correlated with K17 in other solid tumors, including pancreatic ductal adenocarcinoma and is also a prognostic biomarker for LSCC, although the prognostic accuracy of A2ML1 …
Based on TCGA RNA-seq data, alpha-2-macroglobulin like 1 (A2ML1), a protease inhibitor, is highly correlated with K17 in other solid …
Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.
Santos-Cortez RLP, Ong KMC, Carlos-Hiceta A, Tantoco MLC, Yarza TKL, San Agustin ML, Pedro M, Cruz TLG, Cutiongco-de la Paz EM, Abes GT, Llanes EGDV, Chan AL, Chiong CM, Reyes-Quintos MRT. Santos-Cortez RLP, et al. Genet Test Mol Biomarkers. 2023 Jan;27(1):12-17. doi: 10.1089/gtmb.2022.0171. Genet Test Mol Biomarkers. 2023. PMID: 36719978 Free PMC article.
An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1- …
An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 varia …
Rare A2ML1 variants confer susceptibility to otitis media.
Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM; University of Washington Center for Mendelian Genomics; Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Santos-Cortez RL, et al. Nat Genet. 2015 Aug;47(8):917-20. doi: 10.1038/ng.3347. Epub 2015 Jun 29. Nat Genet. 2015. PMID: 26121085 Free PMC article.
A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispani …
A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LO …
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.
Recently, novel gene variants, including RIT1, RRAS, RASA2, A2ML1, SOS2 and LZTR1, have been shown to be associated with RASopathies, further expanding the disease entity. ...
Recently, novel gene variants, including RIT1, RRAS, RASA2, A2ML1, SOS2 and LZTR1, have been shown to be associated with RASopathies, …
62 results