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Journal Abstract Search

181 related items for PubMed ID: 35689379

  • 1. Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
    Nédélec A, Guérit EM, Dachy G, Lenglez S, Wong LS, Arts FA, Demoulin JB.
    J Cell Mol Med; 2022 Jul; 26(14):3902-3912. PubMed ID: 35689379
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  • 5. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
    Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM, Roé E, Baselga E.
    Am J Med Genet A; 2022 Apr; 188(4):1233-1238. PubMed ID: 34894066
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  • 7. PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
    Arts FA, Chand D, Pecquet C, Velghe AI, Constantinescu S, Hallberg B, Demoulin JB.
    Oncogene; 2016 Jun 23; 35(25):3239-48. PubMed ID: 26455322
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  • 9. The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
    Moura DAP, de Oliveira JRM.
    J Mol Neurosci; 2020 Dec 23; 70(12):2102-2106. PubMed ID: 32613555
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  • 14. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
    Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G, Noël LA, Velghe AI, Galant C, Debiec-Rychter M, Van Damme A, Vikkula M, Helaers R, Limaye N, Poirel HA, Demoulin JB.
    Hum Mol Genet; 2017 May 15; 26(10):1801-1810. PubMed ID: 28334876
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  • 15. A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
    Guimier A, Gordon CT, Hully M, Blauwblomme T, Minard-Colin V, Bole-Feysot C, Nitschké P, Oufadem M, Boddaert N, Sarnacki S, Amiel J.
    Am J Med Genet A; 2019 Jul 15; 179(7):1304-1309. PubMed ID: 31004414
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  • 16. A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
    Pond D, Arts FA, Mendelsohn NJ, Demoulin JB, Scharer G, Messinger Y.
    Genet Med; 2018 Jan 15; 20(1):142-150. PubMed ID: 28726812
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  • 18. PDGF receptor mutations in human diseases.
    Guérit E, Arts F, Dachy G, Boulouadnine B, Demoulin JB.
    Cell Mol Life Sci; 2021 Apr 15; 78(8):3867-3881. PubMed ID: 33449152
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  • 19. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
    Takenouchi T, Okuno H, Kosaki K.
    Am J Med Genet C Semin Med Genet; 2019 Dec 15; 181(4):650-657. PubMed ID: 31710779
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  • 20. Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
    Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW.
    Cold Spring Harb Mol Case Stud; 2019 Oct 15; 5(5):. PubMed ID: 31645346
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