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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: santen gwe. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
A novel variant of FGFR3 causes proportionate short stature.
Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M. Kant SG, et al. Eur J Endocrinol. 2015 Jun;172(6):763-70. doi: 10.1530/EJE-14-0945. Epub 2015 Mar 16. Eur J Endocrinol. 2015. PMID: 25777271
An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.
Hannema SE, van Duyvenvoorde HA, Premsler T, Yang RB, Mueller TD, Gassner B, Oberwinkler H, Roelfsema F, Santen GW, Prickett T, Kant SG, Verkerk AJ, Uitterlinden AG, Espiner E, Ruivenkamp CA, Oostdijk W, Pereira AM, Losekoot M, Kuhn M, Wit JM. Hannema SE, et al. J Clin Endocrinol Metab. 2013 Dec;98(12):E1988-98. doi: 10.1210/jc.2013-2358. Epub 2013 Sep 20. J Clin Endocrinol Metab. 2013. PMID: 24057292
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.
Pagliaroli L, Porazzi P, Curtis AT, Scopa C, Mikkers HMM, Freund C, Daxinger L, Deliard S, Welsh SA, Offley S, Ott CA, Calabretta B, Brugmann SA, Santen GWE, Trizzino M. Pagliaroli L, et al. Among authors: santen gwe. Nat Commun. 2021 Nov 9;12(1):6469. doi: 10.1038/s41467-021-26810-x. Nat Commun. 2021. PMID: 34753942 Free PMC article.
Paternally Inherited IGF2 Mutation and Growth Restriction.
Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T. Begemann M, et al. N Engl J Med. 2015 Jul 23;373(4):349-56. doi: 10.1056/NEJMoa1415227. Epub 2015 Jul 8. N Engl J Med. 2015. PMID: 26154720 Free article.
The ARID1B phenotype: what we have learned so far.
Santen GW, Clayton-Smith J; ARID1B-CSS consortium. Santen GW, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169814 Review.
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium; Duchen MR, Muntoni F, Sheridan E. Logan CV, et al. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15. Nat Genet. 2014. PMID: 24336167
106 results