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IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N. Joustra SD, et al. Among authors: bak b. J Clin Endocrinol Metab. 2020 Mar 1;105(3):e70-84. doi: 10.1210/clinem/dgz093. J Clin Endocrinol Metab. 2020. PMID: 31650157 Free PMC article.
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. Among authors: bak b. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
Response to Letter to the Editor: "IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction".
Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Bassett JHD, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N. Joustra SD, et al. Among authors: bak b. J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2315-6. doi: 10.1210/clinem/dgaa147. J Clin Endocrinol Metab. 2020. PMID: 32211768 Free PMC article. No abstract available.
Is IGSF1 involved in human pituitary tumor formation?
Faucz FR, Horvath AD, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA. Faucz FR, et al. Among authors: bak b. Endocr Relat Cancer. 2015 Feb;22(1):47-54. doi: 10.1530/ERC-14-0465. Epub 2014 Dec 19. Endocr Relat Cancer. 2015. PMID: 25527509 Free PMC article.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: bak b. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
93 results