89 related articles for article (PubMed ID: 30035392)
1. Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.
Çetinkaya A; Taşkıran E; Soyer T; Şimşek-Kiper PÖ; Utine GE; Tunçbilek G; Boduroğlu K; Alikaşifoğlu M
Turk J Pediatr; 2017; 59(6):619-624. PubMed ID: 30035392
[TBL] [Abstract][Full Text] [Related]
2. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
Britto JA; Moore RL; Evans RD; Hayward RD; Jones BM
J Neurosurg; 2001 Oct; 95(4):660-73. PubMed ID: 11596961
[TBL] [Abstract][Full Text] [Related]
3. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
Yin L; Du X; Li C; Xu X; Chen Z; Su N; Zhao L; Qi H; Li F; Xue J; Yang J; Jin M; Deng C; Chen L
Bone; 2008 Apr; 42(4):631-43. PubMed ID: 18242159
[TBL] [Abstract][Full Text] [Related]
4. Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
Ang BU; Spivak RM; Nah HD; Kirschner RE
J Craniofac Surg; 2010 Mar; 21(2):462-7. PubMed ID: 20489451
[TBL] [Abstract][Full Text] [Related]
5. Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
Miraoui H; Ringe J; Häupl T; Marie PJ
Hum Mol Genet; 2010 May; 19(9):1678-89. PubMed ID: 20124286
[TBL] [Abstract][Full Text] [Related]
6. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
Lomri A; Lemonnier J; Hott M; de Parseval N; Lajeunie E; Munnich A; Renier D; Marie PJ
J Clin Invest; 1998 Mar; 101(6):1310-7. PubMed ID: 9502772
[TBL] [Abstract][Full Text] [Related]
7. Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.
Luo F; Xie Y; Xu W; Huang J; Zhou S; Wang Z; Luo X; Liu M; Chen L; Du X
Int J Biol Sci; 2017; 13(1):32-45. PubMed ID: 28123344
[TBL] [Abstract][Full Text] [Related]
8. Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells.
Lu C; Huguley S; Cui C; Cabaniss LB; Waite PD; Sarver DM; Mamaeva OA; MacDougall M
Cells Tissues Organs; 2016; 201(1):26-37. PubMed ID: 26613250
[TBL] [Abstract][Full Text] [Related]
9. Two patients with Apert syndrome with different mutations: the importance of early diagnosis.
Işık E; Atik T; Onay H; Özkınay F
Turk Pediatri Ars; 2017 Dec; 52(4):231-235. PubMed ID: 29483804
[TBL] [Abstract][Full Text] [Related]
10. Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis.
Carinci P; Becchetti E; Bodo M
Int J Dev Biol; 2000; 44(6):715-23. PubMed ID: 11061436
[TBL] [Abstract][Full Text] [Related]
11. Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations.
Carinci P; Becchetti E; Baroni T; Carinci F; Pezzetti F; Stabellini G; Locci P; Scapoli L; Tognon M; Volinia S; Bodo M
Eur J Histochem; 2007; 51 Suppl 1():105-15. PubMed ID: 17703601
[TBL] [Abstract][Full Text] [Related]
12. Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.
Suzuki H; Suda N; Shiga M; Kobayashi Y; Nakamura M; Iseki S; Moriyama K
J Cell Physiol; 2012 Sep; 227(9):3267-77. PubMed ID: 22105374
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.
Torres L; Hernández G; Barrera A; Ospina S; Prada R
Colomb Med (Cali); 2015 Sep; 46(3):150-3. PubMed ID: 26600631
[TBL] [Abstract][Full Text] [Related]
14. Adeno-Associated Virus-Mediated RNAi against Mutant Alleles Attenuates Abnormal Calvarial Phenotypes in an Apert Syndrome Mouse Model.
Luo F; Xie Y; Wang Z; Huang J; Tan Q; Sun X; Li F; Li C; Liu M; Zhang D; Xu M; Su N; Ni Z; Jiang W; Chang J; Chen H; Chen S; Xu X; Deng C; Wang Z; Du X; Chen L
Mol Ther Nucleic Acids; 2018 Dec; 13():291-302. PubMed ID: 30321816
[TBL] [Abstract][Full Text] [Related]
15. Molecular diagnosis of Apert syndrome in Chinese patients.
Tsai FJ; Tsai CH; Peng CT; Lin SP; Hwu WL; Wang TR; Lee CC; Wu JY
Acta Paediatr Taiwan; 1999; 40(1):31-3. PubMed ID: 10910582
[TBL] [Abstract][Full Text] [Related]
16. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie AO; Slaney SF; Oldridge M; Poole MD; Ashworth GJ; Hockley AD; Hayward RD; David DJ; Pulleyn LJ; Rutland P
Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
[TBL] [Abstract][Full Text] [Related]
17. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
van Ravenswaaij-Arts CM; van den Ouweland AM; Hoogeboom AJ; Herbergs J; Pals G
Ned Tijdschr Geneeskd; 2002 Jan; 146(2):63-6. PubMed ID: 11820058
[TBL] [Abstract][Full Text] [Related]
18. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.
Shukla V; Coumoul X; Wang RH; Kim HS; Deng CX
Nat Genet; 2007 Sep; 39(9):1145-50. PubMed ID: 17694057
[TBL] [Abstract][Full Text] [Related]
19. [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
Wada C; Ishigaki M; Toyo-oka Y; Yamabe H; Ohnuki Y; Takada F; Yamazaki Y; Ohtani H
Rinsho Byori; 1996 May; 44(5):435-8. PubMed ID: 8676562
[TBL] [Abstract][Full Text] [Related]
20. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
Wang Y; Xiao R; Yang F; Karim BO; Iacovelli AJ; Cai J; Lerner CP; Richtsmeier JT; Leszl JM; Hill CA; Yu K; Ornitz DM; Elisseeff J; Huso DL; Jabs EW
Development; 2005 Aug; 132(15):3537-48. PubMed ID: 15975938
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
