Citation: Caroline Apra, Corinne Collet, Eric Arnaud, Federico Di Rocco. Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus[J]. AIMS Genetics, 2016, 3(4): 205-211. doi: 10.3934/genet.2016.4.205
[1] | Tasnim Fatima, Ekeoma Ijioma, Toshiyuki Ogawa, Adrian Muntean . Homogenization and dimension reduction of filtration combustion in heterogeneous thin layers. Networks and Heterogeneous Media, 2014, 9(4): 709-737. doi: 10.3934/nhm.2014.9.709 |
[2] | Markus Gahn, Maria Neuss-Radu, Peter Knabner . Effective interface conditions for processes through thin heterogeneous layers with nonlinear transmission at the microscopic bulk-layer interface. Networks and Heterogeneous Media, 2018, 13(4): 609-640. doi: 10.3934/nhm.2018028 |
[3] | Tom Freudenberg, Michael Eden . Homogenization and simulation of heat transfer through a thin grain layer. Networks and Heterogeneous Media, 2024, 19(2): 569-596. doi: 10.3934/nhm.2024025 |
[4] | François Murat, Ali Sili . A remark about the periodic homogenization of certain composite fibered media. Networks and Heterogeneous Media, 2020, 15(1): 125-142. doi: 10.3934/nhm.2020006 |
[5] | Vivek Tewary . Combined effects of homogenization and singular perturbations: A bloch wave approach. Networks and Heterogeneous Media, 2021, 16(3): 427-458. doi: 10.3934/nhm.2021012 |
[6] | María Anguiano, Renata Bunoiu . Homogenization of Bingham flow in thin porous media. Networks and Heterogeneous Media, 2020, 15(1): 87-110. doi: 10.3934/nhm.2020004 |
[7] | Iryna Pankratova, Andrey Piatnitski . Homogenization of convection-diffusion equation in infinite cylinder. Networks and Heterogeneous Media, 2011, 6(1): 111-126. doi: 10.3934/nhm.2011.6.111 |
[8] | Grigory Panasenko, Ruxandra Stavre . Asymptotic analysis of a non-periodic flow in a thin channel with visco-elastic wall. Networks and Heterogeneous Media, 2008, 3(3): 651-673. doi: 10.3934/nhm.2008.3.651 |
[9] | Mohamed Belhadj, Eric Cancès, Jean-Frédéric Gerbeau, Andro Mikelić . Homogenization approach to filtration through a fibrous medium. Networks and Heterogeneous Media, 2007, 2(3): 529-550. doi: 10.3934/nhm.2007.2.529 |
[10] | Mustapha El Jarroudi, Youness Filali, Aadil Lahrouz, Mustapha Er-Riani, Adel Settati . Asymptotic analysis of an elastic material reinforced with thin fractal strips. Networks and Heterogeneous Media, 2022, 17(1): 47-72. doi: 10.3934/nhm.2021023 |
[1] |
Agochukwu NB, Solomon BD, Muenke M (2012) Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 28: 1447-1463. doi: 10.1007/s00381-012-1756-2
![]() |
[2] |
Rocco FD, Arnaud E, Renier D (2009) Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediat 4: 21-25. doi: 10.3171/2009.3.PEDS08355
![]() |
[3] | Crouzon O (1912) Dysostose cranio-faciale hereditaire. Bull Mem Soc Med Hop Paris 33: 545-555. |
[4] |
Reardon W, Winter RM, Rutland P, et al. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genetics 8: 98-103. doi: 10.1038/ng0994-98
![]() |
[5] | Collet C, Alessandri JL, Arnaud E, et al. (2014) Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. Clin Genet 85: 598-599. |
[6] |
Lajeunie E, Heuertz S, Ghouzzi VE, et al. (2006) Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 14: 289-298. doi: 10.1038/sj.ejhg.5201558
![]() |
[7] | Lajeunie E, Ma HW, Bonaventure J, et al. (1995) FGFR2 mutations in Pfeiffer syndrome. Nat Genet 9: 108. |
[8] |
Tartaglia M, Di Rocco C, Lajeunie E, et al. (1997) Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet 101: 47-50. doi: 10.1007/s004390050584
![]() |
[9] | Kan S, Elanko N, Johnson D, et al. (2002) Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70: 472-486. |
[10] | Meyers GA, Day D, Goldberg R, et al. (1996) FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 58: 491-498. |
[11] |
Chen H, Ma J, Li W, et al. (2007) A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. Mol Cell 27: 717-730. doi: 10.1016/j.molcel.2007.06.028
![]() |
[12] | Wilkie AOM, Bochukova EG, Hansen RMS, et al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 143: 1941-1949. |
[13] |
de Ravel TJL, Taylor IB, Van Oostveldt AJT, et al. (2005) A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet 13: 503-505. doi: 10.1038/sj.ejhg.5201325
![]() |
[14] | Zankl A, Jaeger G, Bonafé L, et al. (2004) Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Am J Med Genet A 131: 299-300. |
[15] | Roscioli T, Elakis G, Cox TC, et al. (2013) Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet 163C: 259-270. |
[16] |
Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21: 902-912. doi: 10.1007/s00381-004-1116-y
![]() |
[17] |
Raybaud C, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23: 1379-1388. doi: 10.1007/s00381-007-0474-7
![]() |
[18] |
McGillivray G, Savarirayan R, Cox T, et al. (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 42: 656-662. doi: 10.1136/jmg.2004.027888
![]() |
1. | Renata Bunoiu, Claudia Timofte, Upscaling of a double porosity problem with jumps in thin porous media, 2022, 101, 0003-6811, 3497, 10.1080/00036811.2020.1854232 | |
2. | M. Amar, D. Andreucci, R. Gianni, C. Timofte, Concentration and homogenization in electrical conduction in heterogeneous media involving the Laplace–Beltrami operator, 2020, 59, 0944-2669, 10.1007/s00526-020-01749-x | |
3. | Ekeoma Rowland Ijioma, Hirofumi Izuhara, Masayasu Mimura, Traveling Waves in a Reaction-Diffusion System Describing Smoldering Combustion, 2017, 77, 0036-1399, 614, 10.1137/16M1089915 | |
4. | Ekeoma R. Ijioma, Hirofumi Izuhara, Masayasu Mimura, Toshiyuki Ogawa, Homogenization and fingering instability of a microgravity smoldering combustion problem with radiative heat transfer, 2015, 162, 00102180, 4046, 10.1016/j.combustflame.2015.07.044 | |
5. | M. Amar, D. Andreucci, C. Timofte, Asymptotic analysis for non-local problems in composites with different imperfect contact conditions, 2022, 0003-6811, 1, 10.1080/00036811.2022.2120867 | |
6. | A. Chakib, A. Hadri, A. Nachaoui, M. Nachaoui, Homogenization of parabolic problem with nonlinear transmission condition, 2017, 37, 14681218, 433, 10.1016/j.nonrwa.2017.03.004 | |
7. | Iuliu Sorin Pop, Jeroen Bogers, Kundan Kumar, Analysis and Upscaling of a Reactive Transport Model in Fractured Porous Media with Nonlinear Transmission Condition, 2017, 45, 2305-221X, 77, 10.1007/s10013-016-0198-7 | |
8. | Emilio N. M. Cirillo, Ida de Bonis, Adrian Muntean, Omar Richardson, Upscaling the interplay between diffusion and polynomial drifts through a composite thin strip with periodic microstructure, 2020, 55, 0025-6455, 2159, 10.1007/s11012-020-01253-8 | |
9. | Vishnu Raveendran, Emilio Cirillo, Ida de Bonis, Adrian Muntean, Scaling effects on the periodic homogenization of a reaction-diffusion-convection problem posed in homogeneous domains connected by a thin composite layer, 2021, 80, 0033-569X, 157, 10.1090/qam/1607 | |
10. | Renata Bunoiu, Karim Karim, Claudia Timofte, T-coercivity for the asymptotic analysis of scalar problems with sign-changing coefficients in thin periodic domains, 2021, 2021, 1072-6691, 59, 10.58997/ejde.2021.59 | |
11. | Renata Bunoiu, Claudia Timofte, Upscaling of a diffusion problem with flux jump in high contrast composites, 2024, 103, 0003-6811, 2269, 10.1080/00036811.2023.2291810 | |
12. | Matteo Colangeli, Manh Hong Duong, Adrian Muntean, Model reduction of Brownian oscillators: quantification of errors and long-time behavior, 2023, 56, 1751-8113, 345003, 10.1088/1751-8121/ace948 |