| 1 | ACH, FGFR3
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| Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles.
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| Sarabipour S, Hristova K.
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| Biochim Biophys Acta 1858(7 Pt A):1436-42. doi: 10.1016/j.bbamem.2016.03.027. Epub 2016 Mar 31.
2016
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| 2 | ACH, FGFR3
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| Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia.
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| Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugniery E, Oppeneer T, Wendt DJ, Bell SM, Bullens S, Bunting S, Tsuruda LS, O'Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L.
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| Am J Hum Genet 91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.
2012
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| 3 | ACH, FGFR3
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| Physical basis behind achondroplasia, the most common form of human dwarfism.
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| He L, Horton W, Hristova K.
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| J Biol Chem 285(39):30103-14. Epub 2010 Jul 12.
2010
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| 4 | ACH, FGFR3, TNTP1, TNTP2
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| FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
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| Matsushita T, Wilcox WR, Chan YY, Kawanami A, B�k�lmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S.
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| Hum Mol Genet 18(2):227-40. Epub 2008 Oct 15. 2009
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| 5 | FGFR3, ACH, HCH
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| Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
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| Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
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| Eur J Hum Genet 14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321. 2006
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| 6 | FGFR3, ACH
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| The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain.
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| You M, Li E, Hristova K.
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| Biochemistry 45(17):5551-6. 2006
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| 7 | FGFR3, ACH
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| Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
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| Cho JY, Guo C, Torello M, Lunstrum GP, Iwata T, Deng C, Horton WA.
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| Proc Natl Acad Sci U S A 101(2):609-14. Epub 2003 Dec 29. 2004
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| 8 | ACH, FGFR3, HCH
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| Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
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| Mortier G, Nuytinck L, Craen M, Renard JP, Leroy JG, de Paepe A.
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| J Med Genet 37(3):220-4. No abstract available. 2000
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| 9 | ACH, FGFR3
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| Comparison of clinical-radiological and molecular findings in hypochondroplasia.
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| Prinster C, Carrera P, Del Maschio M, Weber G, Maghnie M, Vigone MC, Mora S, Tonini G, Rigon F, Beluffi G, Severi F, Chiumello G, Ferrari M.
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| Am J Med Genet 75(1):109-12. 1998
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| 10 | ACH, FGFR3
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| Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
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| Wilkin DJ, et al.
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| Am J Hum Genet 63 : 711-716. 1998
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| 11 | ACH, FGFR3, TNTP1
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| Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
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| Nguyen HB, Estacion M, Gargus JJ.
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| Hum Mol Genet 6(5):681-8. 1997
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| 12 | ACH, FGFR3
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| Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
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| Webster MK, et al.
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| EMBO J 15 : 520-527. 1996
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| 13 | ACH, FGFR3
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| Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
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| Rousseau F, et al.
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| Horm Res 45 : 108-110. 1996
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| 14 | FGFR3, ACH
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| Fibroblast growth factor receptor 3 is a negative regulator of bone growth.
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| Deng C, et al.
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| Cell 84 : 911-921. 1996
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| 15 | ACH, FGFR3
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| Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene.
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| Niu DM, et al.
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| Hum Genet 98 : 65-67. 1996
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| 16 | FGFR3, TNTP1, ACH
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| Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
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| Bonaventure J, et al.
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| Am J Med Genet 63 : 148-154. 1996
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| 17 | FGFR3, ACH, TNTP1
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| Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
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| Naski MC, et al.
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| Nat Genet 13 : 233-237. 1996
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| 18 | ACH, FGFR3
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| Clinical and genetic heterogeneity of hypochondroplasia.
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| Rousseau F, et al.
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| J Med Genet 33 : 749-752. 1996
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| 19 | FGFR3, ACH
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| A common FGFR3 gene mutation in hypochondroplasia.
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| Prinos P, et al.
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| Hum Mol Genet 4 : 2097-2101. 1995
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| 20 | FGFR3, ACH
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| Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375).
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| Nishimura G, et al.
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| Am J Med Genet 59 : 393-395. 1995
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| 21 | FGFR3, ACH
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| Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia.
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| Tonoki H, et al.
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| Jpn J Hum Genet 40 : 347-349. 1995
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| 22 | ACH
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| Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
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| Hecht JT, et al.
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| Am J Med Genet 57 : 505-506. 1995
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| 23 | ACH, FGFR3
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| A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
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| Stoilov I, et al.
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| Am J Med Genet 55 : 127-133. 1995
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| 24 | ACH, FGFR3, HCH
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| A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
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| Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA.
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| Nat Genet 10(3):357-9. 1995
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| 25 | ACH
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| A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
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| Le Merrer M, et al.
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| Nat Genet 6 : 318-321. 1994
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| 26 | ACH
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| The gene for achondroplasia maps to the telomeric region of chromosome 4p.
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| Velinov M, et al.
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| Nat Genet 6 : 314-316. 1994
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| 27 | ACH
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| Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
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| Francomano CA, et al.
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| Hum Mol Genet 3 : 787-792. 1994
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| 28 | ACH
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| Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
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| Woods CG, et al.
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| J Med Genet 31 : 565-569. 1994
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| 29 | ACH
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| Chromosome 4p16 and osteochondroplasias.
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| Urioste M, et al.
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| Nat Genet 6 : 334. 1994
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| 30 | ACH, FGFR3
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| Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
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| Shiang R, et al.
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| Cell 78 : 335-342. 1994
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| 31 | ACH, FGFR3
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| Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
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| Rousseau F, et al.
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| Nature 371 : 252-254. 1994
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