184 related articles for article (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
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ; Sanchez-Contreras MY; Keppler-Noreuil KM; Sapp J; Crenshaw M; Finch NA; Cormier-Daire V; Rademakers R; Sybert VP; Biesecker LG
Am J Hum Genet; 2015 Sep; 97(3):465-74. PubMed ID: 26279204
[TBL] [Abstract][Full Text] [Related]
4. First case report of Penttinen syndrome from India.
Aggarwal B; Correa ARE; Gupta N; Jana M; Kabra M
Am J Med Genet A; 2022 Feb; 188(2):683-687. PubMed ID: 34799960
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
6. 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]
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; 35(25):3239-48. PubMed ID: 26455322
[TBL] [Abstract][Full Text] [Related]
8. PDGFRB mutation causes autosomal-dominant Penttinen syndrome.
Aminkeng F
Clin Genet; 2015 Dec; 88(6):531. PubMed ID: 26507258
[TBL] [Abstract][Full Text] [Related]
9. The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
Moura DAP; de Oliveira JRM
J Mol Neurosci; 2020 Dec; 70(12):2102-2106. PubMed ID: 32613555
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation.
Zhang Z; Zheng S; Zheng S; Wang Y; Xu XG; Gao XH; Chen HD
Acta Derm Venereol; 2018 Oct; 98(9):912-913. PubMed ID: 29944170
[No Abstract] [Full Text] [Related]
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; 26(10):1801-1810. PubMed ID: 28334876
[TBL] [Abstract][Full Text] [Related]
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; 179(7):1304-1309. PubMed ID: 31004414
[TBL] [Abstract][Full Text] [Related]
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; 20(1):142-150. PubMed ID: 28726812
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. PDGF receptor mutations in human diseases.
Guérit E; Arts F; Dachy G; Boulouadnine B; Demoulin JB
Cell Mol Life Sci; 2021 Apr; 78(8):3867-3881. PubMed ID: 33449152
[TBL] [Abstract][Full Text] [Related]
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; 181(4):650-657. PubMed ID: 31710779
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
