BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 33683022)

  • 1. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
    Chenbhanich J; Hu Y; Hetts S; Cooke D; Dowd C; Devine P; ; Russell B; Kang SHL; Chang VY; Abla AA; Cornett P; Yeh I; Lee H; Martinez-Agosto JA; Frieden IJ; Shieh JT
    Am J Med Genet A; 2021 May; 185(5):1430-1436. PubMed ID: 33683022
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
    Karasozen Y; Osbun JW; Parada CA; Busald T; Tatman P; Gonzalez-Cuyar LF; Hale CJ; Alcantara D; O'Driscoll M; Dobyns WB; Murray M; Kim LJ; Byers P; Dorschner MO; Ferreira M
    Am J Hum Genet; 2019 May; 104(5):968-976. PubMed ID: 31031011
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
    Wenger TL; Bly RA; Wu N; Albert CM; Park J; Shieh J; Chenbhanich J; Heike CL; Adam MP; Chang I; Sun A; Miller DE; Beck AE; Gupta D; Boos MD; Zackai EH; Everman D; Ganapathi S; Wilson M; Christodoulou J; Zarate YA; Curry C; Li D; Guimier A; Amiel J; Hakonarson H; Webster R; Bhoj EJ; Perkins JA; Dahl JP; Dobyns WB
    Am J Med Genet A; 2020 Jul; 182(7):1576-1591. PubMed ID: 32500973
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.
    Parada CA; El-Ghazali FM; Toglia D; Ruzevick J; McAvoy M; Emerson S; Karasozen Y; Busald T; Nazem AA; Suranowitz SM; Shalhub S; Marshall DA; Gonzalez-Cuyar LF; Dorschner MO; Ferreira M
    J Am Heart Assoc; 2022 Feb; 11(4):e024289. PubMed ID: 35156398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 181(4):650-657. PubMed ID: 31710779
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
    Foster A; Chalot B; Antoniadi T; Schaefer E; Keelagher R; Ryan G; Thomas Q; Philippe C; Bruel AL; Sorlin A; Thauvin-Robinet C; Bardou M; Luu M; Quenardelle V; Wolff V; Woodley J; Vabres P; Lim D; Igbokwe R; Joseph A; Walker H; Jester A; Ellenbogen J; Johnson D; Rooke B; Moss C; Cole T; Faivre L
    Clin Genet; 2020 Jul; 98(1):19-31. PubMed ID: 32291752
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
    Takenouchi T; Kodo K; Yamazaki F; Nakatomi H; Kosaki K
    Am J Med Genet A; 2021 Mar; 185(3):999-1003. PubMed ID: 33382209
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.
    Hao L; Ya X; Wu J; Tao C; Ma R; Zheng Z; Mou S; Ling Y; Yang Y; Wang J; Zhang Y; Lin Q; Zhao J
    J Biomed Sci; 2024 May; 31(1):51. PubMed ID: 38741091
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 179(7):1304-1309. PubMed ID: 31004414
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expansion of the phenotype of Kosaki overgrowth syndrome.
    Minatogawa M; Takenouchi T; Tsuyusaki Y; Iwasaki F; Uehara T; Kurosawa K; Kosaki K; Curry CJ
    Am J Med Genet A; 2017 Sep; 173(9):2422-2427. PubMed ID: 28639748
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 35(25):3239-48. PubMed ID: 26455322
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
    Zarate YA; Boccuto L; Srikanth S; Pauly R; Ocal E; Balmakund T; Hinkle K; Stefans V; Schaefer GB; Collins RT
    Am J Med Genet A; 2019 Jun; 179(6):1047-1052. PubMed ID: 30941910
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.
    He C; Medley SC; Kim J; Sun C; Kwon HR; Sakashita H; Pincu Y; Yao L; Eppard D; Dai B; Berry WL; Griffin TM; Olson LE
    Genes Dev; 2017 Aug; 31(16):1666-1678. PubMed ID: 28924035
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
    Bredrup C; Cristea I; Safieh LA; Di Maria E; Gjertsen BT; Tveit KS; Thu F; Bull N; Edward DP; Hennekam RCM; Høvding G; Haugen OH; Houge G; Rødahl E; Bruland O
    Hum Mol Genet; 2021 Mar; 30(1):72-77. PubMed ID: 33450762
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
    Hernández Dorronsoro U; Gawlinski P; Lasa-Aranzasti A; Martínez-Soroa I; Artola Aizalde E; Saez Villaverde R; Aguirre Rodríguez C; Satrustegi Aritziturri M
    Clin Genet; 2022 Jan; 101(1):144-145. PubMed ID: 34708400
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel
    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; 5(5):. PubMed ID: 31645346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 20(1):142-150. PubMed ID: 28726812
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
    Takenouchi T; Yamaguchi Y; Tanikawa A; Kosaki R; Okano H; Kosaki K
    J Pediatr; 2015 Feb; 166(2):483-6. PubMed ID: 25454926
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
    Bredrup C; Stokowy T; McGaughran J; Lee S; Sapkota D; Cristea I; Xu L; Tveit KS; Høvding G; Steen VM; Rødahl E; Bruland O; Houge G
    Eur J Hum Genet; 2019 Apr; 27(4):574-581. PubMed ID: 30573803
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.