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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Van Damme T, et al. Among authors: simon m. Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234. Hum Mol Genet. 2018. PMID: 29931299
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group; Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group; Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN. Ashikov A, et al. Among authors: simon meh. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213. Hum Mol Genet. 2018. PMID: 29878199
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Among authors: simon m. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
VGLL-fusions define a new class of intraparenchymal CNS schwannoma.
Schmid S, Mirchia K, Tietze A, Liu I, Siewert C, Nückles J, Schittenhelm J, Behling F, Snuderl M, Hartmann C, Brandner S, Paine SML, Korshunov A, Hasselblatt M, Coras R, Epari S, Stadelmann C, Zechel S, Simon M, Wilson Y, Gianno F, Calixto-Hope GL Jr, Zherebitskiy V, Kaimaktchiev VB, Robinson L, Aldape K, Hoving EW, Tops BBJ, Perera AA, Göller P, Hernáiz Driever P, Wesseling P, Koch A, Perry A, Sahm F, Jones DTW, Capper D. Schmid S, et al. Among authors: simon m. Neuro Oncol. 2024 Dec 23:noae269. doi: 10.1093/neuonc/noae269. Online ahead of print. Neuro Oncol. 2024. PMID: 39713960
E-box independent chromatin recruitment turns MYOD into a transcriptional repressor.
Nicoletti C, Massenet J, Pintado-Urbanc AP, Connor LJ, Nicolau M, Sundar S, Xu M, Schmitt A, Zhang W, Fang Z, Chan TCI, Tapscott SJ, Cheung TH, Simon MD, Caputo L, Puri PL. Nicoletti C, et al. Among authors: simon md. bioRxiv [Preprint]. 2024 Dec 5:2024.12.05.627024. doi: 10.1101/2024.12.05.627024. bioRxiv. 2024. PMID: 39677796 Free PMC article. Preprint.
Management of Severe Pyogenic Spinal Infections: The 2SICK Study by the EANS Spine Section.
Kramer A, Thavarajasingam SG, Neuhoff J, Lange F, Ponniah HS, Lener S, Thomé C Prof, Stengel FC, Fischer G, Hostettler IC, Stienen MN, Jemna M, Gousias K Prof, Nedeljkovic A, Grujicic D, Nedeljkovic Z, Poluga J, Schär RT, Urbanski W, Sousa C, Casimiro CDO, Harmer H, Ladisich B, Matt M, Simon M, Pai D, Doenitz C, Mongardi L, Lofrese G, Buchta M, Grassner L, Trávníček P, Hosszú T, Wissels M, Bamps S, Hamouda W, Panico F, Garbossa D Prof, Barbato M, Barbarisi M, Pantel T, Gempt J Prof, Kasula TS, Desai S, Vitowanu JM, Rovčanin B, Omerhodzic I Prof, Demetriades AK, Davies B, Shiban E Prof, Ringel F Prof. Kramer A, et al. Among authors: simon m. Spine J. 2024 Dec 11:S1529-9430(24)01196-3. doi: 10.1016/j.spinee.2024.12.018. Online ahead of print. Spine J. 2024. PMID: 39672206 Free article.
6,524 results