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Page 1
Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production.
Borges KS, Little DW 3rd, Magalhães TA, Ribeiro C, Dumontet T, Lapensee C, Basham KJ, Seth A, Azova S, Guagliardo NA, Barrett PQ, Berber M, O'Connell AE, Turcu AF, Lerario AM, Mohan DR, Rainey W, Carlone DL, Hirschhorn JN, Salic A, Breault DT, Hammer GD. Borges KS, et al. Among authors: azova s. bioRxiv [Preprint]. 2024 Aug 24:2024.08.23.609423. doi: 10.1101/2024.08.23.609423. bioRxiv. 2024. PMID: 39229119 Free PMC article. Preprint.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: azova s. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Graves' disease in a five-month-old boy with an unusual treatment course.
Azova S, Rajabi F, Modi BP, Mansfield L, Jonas MM, Drobysheva A, Boyd TK, Wassner AJ, Smith JR. Azova S, et al. J Pediatr Endocrinol Metab. 2020 Dec 15;34(3):401-406. doi: 10.1515/jpem-2020-0549. Print 2021 Mar 26. J Pediatr Endocrinol Metab. 2020. PMID: 33675208 Free PMC article.
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
Zhang YJ, Jimenez L, Azova S, Kremen J, Chan YM, Elhusseiny AM, Saeed H, Goldsmith J, Al-Ibraheemi A, O'Connell AE, Kovbasnjuk O, Rodan L, Agrawal PB, Thiagarajah JR. Zhang YJ, et al. Among authors: azova s. Eur J Hum Genet. 2021 Jun;29(6):998-1007. doi: 10.1038/s41431-021-00812-1. Epub 2021 Feb 1. Eur J Hum Genet. 2021. PMID: 33526876 Free PMC article.
16 results