| A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker. | A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.
Zhang X, Tang C, Lian J, Jiang Y., Free PMC Article | 11/16/2023 |
| Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media. | 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., Free PMC Article | 02/11/2023 |
| Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family. | 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., Free PMC Article | 06/11/2022 |
| The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. | 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., Free PMC Article | 03/12/2022 |
| Study identified 16 novel A2ML1 variants in otitis media patients, two of which are pathogenic further providing evidence to support a role for A2ML1 in middle ear mucosal pathology. Sequencing of patients salivary RNA samples demonstrated lower A2ML1 expression according to the carriage of A2ML1 variants. | 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., Free PMC Article | 04/4/2020 |
| The functional assessment supported the pathogenicity of the RAF1 and RIT1 variants of unknown significance (VUSs), while the significance of two VUSs in A2ML1 remained unclear. | Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang WL, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY., Free PMC Article | 12/22/2018 |
| Brain gene expression of PADI2, ZNF385A, PSD2, and A2ML1 and DNA methylation dysregulations are implicated in the alteration of brain tissue properties associated with late-life cognitive decline above and beyond the influence of common neuropathologic conditions. | Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline.
Yu L, Dawe RJ, Boyle PA, Gaiteri C, Yang J, Buchman AS, Schneider JA, Arfanakis K, De Jager PL, Bennett DA., Free PMC Article | 12/30/2017 |
| The indigenous Filipino population has a ~50% prevalence of otitis media. A2ML1 genotype is the primary risk factor for otitis media and main determinant of disease progression, although age, the middle ear microbiome, and social clusters might modulate the effect of the A2ML1 genotype. | Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population.
Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosino JF, Padilla CD, Villarta RL Jr, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Chiong CM, Leal SM, Abes GT., Free PMC Article | 07/22/2017 |
| A2ML1-related otitis media susceptibility may be mediated by changes in the middle ear microbiome. | Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.
Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM., Free PMC Article | 02/18/2017 |
| Studies support a role for alpha-2-macroglobulin-like 1 protein (A2ML1) in the pathophysiology of otitis media. | 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., Free PMC Article | 10/31/2015 |
| our results provide evidence that mutations in A2ML1 are a cause of Noonan-like syndrome, with a variable phenotype ranging from severe to very mild. | Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J., Free PMC Article | 10/24/2015 |
| a new class of target antigens in a paraneoplastic autoimmune multiorgan syndrome | The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human.
Schepens I, Jaunin F, Begre N, Läderach U, Marcus K, Hashimoto T, Favre B, Borradori L., Free PMC Article | 11/6/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC., Free PMC Article | 03/25/2009 |
| alpha2ML1 binding to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis | Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis.
Galliano MF, Toulza E, Jonca N, Gonias SL, Serre G, Guerrin M., Free PMC Article | 01/21/2010 |
| alpha2ML1 is the first alpha2macroglobulin family member detected in the epidermis, where it may play an important role during desquamation by inhibiting extracellular proteases. | A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis.
Galliano MF, Toulza E, Gallinaro H, Jonca N, Ishida-Yamamoto A, Serre G, Guerrin M. | 01/21/2010 |