|
1
|
Wilkie AO: Craniosynostosis: Genes and
mechanisms. Hum Mol Genet. 6:1647–1656. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Mitulla B, Hinkel GK and Lorenz P: Crouzon
syndrome (Mc K 12350). Kinderarztl Prax. 59:278–280. 1991.(In
German). PubMed/NCBI
|
|
3
|
Kaur H, Waraich H Singh and Sharma CM:
Crouzon syndrome: A case report and review of literature. Indian J
Otolaryngol Head Neck Surg. 58:381–382. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Khandelwal R, Agrawal P and Majumdar MR:
Crouzon syndrome. BMJ Case Rep 2012. 2012. View Article : Google Scholar
|
|
5
|
Reardon W, Winter RM, Rutland P, Pulleyn
LJ, Jones BM and Malcolm S: Mutations in the fibroblast growth
factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 8:98–103.
1994. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Liu J, Kwon TG, Nam HK and Hatch NE:
Craniosynostosis-associated Fgfr2(C342Y) mutant bone marrow stromal
cells exhibit cell autonomous abnormalities in osteoblast
differentiation and bone formation. Biomed Res Int.
2013:2925062013.PubMed/NCBI
|
|
7
|
Bowling EL and Burstein FD: Crouzon
syndrome. Optometry. 77:217–222. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Giordano BP, Tuli SS, Ryan SF, Stern M and
Tuli SY: Crouzon syndrome: Visual diagnosis. J Pediatr Health Care.
30:270–273. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Barik M, Bajpai M, Malhotra A, Samantaray
JC, Dwivedi S and Das S: Novel mutation detection of fibroblast
growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb,
FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective
study in Asian Indian patient. J Pediatr Neurosci. 10:207–213.
2015. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Kreiborg S: Crouzon syndrome: A clinical
and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl.
18:1–198. 1981.PubMed/NCBI
|
|
11
|
Shotelersuk V, Mahatumarat C, Ittiwut C,
Rojvachiranonda N, Srivuthana S, Wacharasindhu S and Tongkobpetch
S: FGFR2 mutations among Thai children with Crouzon and Apert
syndromes. J Craniofac Surg. 14:101–107. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Sastre-Ibáñez M, Garcia-Asorey A,
Santos-Bueso E, Lerma-Gallardo JL, Garcia-Sáenz S and Garcia-Feijoo
J: Crouzon syndrome: Ophthalmologic complications in an untreated
adult patient. J Fr Ophtalmol. 38:e177–e178. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Okajima K, Robinson LK, Hart MA, Abuelo
DN, Cowan LS, Hasegawa T, Maumenee IH and Jabs EW: Ocular anterior
chamber dysgenesis in craniosynostosis syndromes with a fibroblast
growth factor receptor 2 mutation. Am J Med Genet. 85:160–170.
1999. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Guo L, Lai YN and Li LX: FGFR2 gene
mutation in a family with Crouzon syndrome and a sporadic Crouzon
syndrome patient. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 25:218–220.
2008.(In Chinese). PubMed/NCBI
|
|
15
|
Cunningham ML, Seto ML, Ratisoontorn C,
Heike CL and Hing AV: Syndromic craniosynostosis: From history to
hydrogen bonds. Orthod Craniofac Res. 10:67–81. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Gorry MC, Preston RA, White GJ, Zhang Y,
Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC and Ehrlich
GD: Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a
common point mutation shared with Jackson-Weiss syndrome. Hum Mol
Genet. 4:1387–1390. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Kitisin K, Saha T, Blake T, Golestaneh N,
Deng M, Kim C, Tang Y, Shetty K, Mishra B and Mishra L: Tgf-beta
signaling in development. Sci STKE: cm1. 2007. View Article : Google Scholar
|
|
18
|
Tan X, Zhu Y, Chen C, Chen X, Qin Y, Qu B,
Luo L, Lin H, Wu M, Chen W and Liu Y: Sprouty2 suppresses
epithelial-mesenchymal transition of human lens epithelial cells
through blockade of Smad2 and ERK1/2 pathways. PLoS One.
11:e01592752016. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Turner N and Grose R: Fibroblast growth
factor signalling: From development to cancer. Nat Rev Cancer.
10:116–129. 2010. View
Article : Google Scholar : PubMed/NCBI
|
|
20
|
Coutts JC and Gallagher JT: Receptors for
fibroblast growth factors. Immunol Cell Biol. 73:584–589. 1995.
View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Zhang Y, Morgan R, Chen C, Cai Y, Clark E,
Khan WN, Shin SU, Cho HM, Al Bayati A, Pimentel A and Rosenblatt
JD: Mammary-tumor-educated B cells acquire LAP/TGF-β and PD-L1
expression and suppress anti-tumor immune responses. Int Immunol.
28:423–433. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Chen C, Zhu Y, Lin Y, Liu Z, Wu M, Li D
and Cheng B: Suppression of retinal pigment epithelial cell
proliferation, migration and epithelial-mesenchymal transition by
proteasome inhibition, a potential defense against proliferative
vitreoretinopathy. Investigative Ophthalmol Visual Sci.
54:62542013.
|
|
23
|
Zhu Y, Chen C, Lin Y, Liu Y and Wu M;
Cataract Lab, : Downregulation of syndecan-4 by RNA interference
inhibits adhesion and bFGF-induced proliferation of lens epithelial
cells. Invest Ophthalmol Vis Sci. 54:4792013.
|
|
24
|
Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S,
Liang X, Zhu Y, Yang H and Liu Y: Ala344Pro mutation in the FGFR2
gene and related clinical findings in one Chinese family with
Crouzon syndrome. Mol Vis. 18:1278–1282. 2012.PubMed/NCBI
|
|
25
|
Lin Y, Liang X, Ai S, Chen C, Liu X, Luo
L, Ye S, Li B, Liu Y and Yang H: FGFR2 molecular analysis and
related clinical findings in one Chinese family with Crouzon
syndrome. Mol Vis. 18:449–454. 2012.PubMed/NCBI
|
|
26
|
Matsumoto K, Urano Y, Kubo Y, Nakanishi H
and Arase S: Mutation of the fibroblast growth factor receptor 2
gene in Japanese patients with Apert syndrome. Plast Reconstr Surg.
101:307–311. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Lin Y, Liu X, Yu S, Luo L, Liang X, Wang
Z, Chen C, Zhu Y, Ye S, Yan H and Liu Y: PAX6 analysis of two
sporadic patients from southern China with classic aniridia. Mol
Vis. 18:2190–2194. 2012.PubMed/NCBI
|
|
28
|
Li T, Lin Y, Gao H, Chen C, Zhu Y, Liu B,
Lian Y, Li Y, Zhou W, Jiang H and Li H: Two heterozygous mutations
identified in one Chinese patient with bilateral macular coloboma.
Mol Med Rep. Jun 29–2017.(Epub ahead of print).
|
|
29
|
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan
J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, et al:
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Hum Mol
Genet. 24:6699–6710. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Ke R, Yang X, Tianyi C, Ge M, Lei J and Mu
X: The C342R mutation in FGFR2 causes Crouzon syndrome with elbow
deformity. J Craniofac Surg. 26:584–586. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Sun LL, Li M, Suo F, Liu XM, Shen EZ, Yang
B, Dong MQ, He WZ and Du LL: Global analysis of fission yeast
mating genes reveals new autophagy factors. PLoS Genet.
9:e10037152013. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Mangasarian K, Li Y, Mansukhani A and
Basilico C: Mutation associated with Crouzon syndrome causes
ligand-independent dimerization and activation of FGF receptor-2. J
Cell Physiol. 172:117–125. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Pandey RK, Bajpai M, Ali A, Gayan S and
Singh A: Mutational identification of fibroblast growth factor
receptor 1 and fibroblast growth factor receptor 2 genes in
craniosynostosis in Indian population. Indian J Hum Genet.
19:449–453. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Glaser RL, Jiang W, Boyadjiev SA, Tran AK,
Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall
SA, et al: Paternal origin of FGFR2 mutations in sporadic cases of
Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 66:768–777.
2000. View
Article : Google Scholar : PubMed/NCBI
|
|
35
|
Kress W, Collmann H, Büsse M,
Halliger-Keller B and Mueller CR: Clustering of FGFR2 gene
mutations inpatients with Pfeiffer and Crouzon syndromes
(FGFR2-associated craniosynostoses). Cytogenet Cell Genet.
91:134–137. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Robertson SC, Meyer AN, Hart KC, Galvin
BD, Webster MK and Donoghue DJ: Activating mutations in the
extracellular domain of the fibroblast growth factor receptor 2
function by disruption of the disulfide bond in the third
immunoglobulin-like domain. Proc Natl Acad Sci USA. 95:4567–4572.
1998; View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Cohen MM and MacLean RE: Craniosynostosis:
Diagnosis, Evaluation and Management. 2nd edition. Oxford
University Press; New York, NY: pp. 4542000
|
|
38
|
Traynis I, Bernstein JA, Gardner P and
Schrijver I: Analysis of the alternative splicing of an FGFR2
transcript due to a novel 5′splice site mutation (1084+1G>A):
Case report. Cleft Palate Craniofac J. 49:104–108. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Burgess K and Price J: Whey to Go Whey
Protein Concentrate: A New Zealand Success Story. MacGibbon J:
Ngaio Press; Martinborough, New Zealand: pp. 2642014
|
