| Name | FGFR3 |
|---|---|
| Synonyms | ACH; Hydroxyaryl protein kinase; CD333; CD333 antigen; CEK 2; CEK2; FGF R3; FGF receptor 3… |
| Name | HCH |
|---|---|
| CAS | 1,2,3,4,5,6-hexachlorocyclohexane |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 12794698 | Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P: Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. . Am J Med Genet A. 2003 Jul 1;120A(1):88-91. Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. |
2(0,0,0,2) | Details |
| 12733711 | Tanaka N, Katsumata N, Horikawa R, Tanaka T: The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J. 2003 Feb;50(1):69-75. The effects of recombinant human growth hormone (rhGH) treatment for three years were compared in patients with achondroplasia (ACH) and hypochondroplasia (HCH), whose diagnosis had been confirmed by DNA analysis of the fibroblast growth factor receptor 3 gene. |
1(0,0,0,1) | Details |
| 10564875 | Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ: Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Am J Med Genet. 1999 Nov 26;87(3):226-9. Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). |
1(0,0,0,1) | Details |
| 8880574 | Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M: Clinical and genetic heterogeneity of hypochondroplasia. . J Med Genet. 1996 Sep;33(9):749-52. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we tested their DNA for the N540K recurrent mutation previously described in the proximal kinase domain of the FGFR3 gene on chromosome 4p16.3, and we detected this mutation in 21/29 HCH patients. |
1(0,0,0,1) | Details |
| 11030412 | Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L: Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Hum Genet. 2000 Aug;107(2):145-9. Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are found in 40-70% of HCH cases. |
1(0,0,0,1) | Details |
| 16355813 | Shin YL, Choi JH, Kim GH, Yoo HW: Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. J Pediatr Endocrinol Metab. 2005 Oct;18(10):999-1005. In an attempt to clarify genotype-phenotype correlation in ACH and HCH, we investigated the presence of the previously identified mutations of FGFR3 in 26 patients with ACH- or HCH-mimicking features and compared clinical and radiographic findings between the two groups. |
1(0,0,0,1) | Details |
| 16575888 | Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A: Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A. 2006 May 1;140(9):998-1003. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. |
1(0,0,0,1) | Details |
| 9672519 | Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG: Genotype and phenotype in hypochondroplasia. . J Pediatr. 1998 Jul;133(1):99-102. Mutations in the kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch). |
62(0,2,2,2) | Details |
| 17561467 | Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, Tanaka H: Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. Bone. 2007 Aug;41(2):273-81. Epub 2007 Feb 9. |
12(0,0,0,12) | Details |
| 18583390 | Castro-Feijoo L, Loidi L, Vidal A, Parajes S, Roson E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Dominguez F, Pombo M: Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?. Eur J Endocrinol. 2008 Sep;159(3):243-9. Epub 2008 Jun 26. |
6(0,0,0,6) | Details |
| 16912704 | Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J: Novel FGFR3 mutations creating residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet. 2006 Dec;14(12):1240-7. Epub 2006 Aug 16. |
5(0,0,0,5) | Details |
| 11015576 | Winterpacht A, Hilbert K, Stelzer C, Schweikardt T, Decker H, Segerer H, Spranger J, Zabel B: A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics. 2000 Jan 24;2(1):9-12. |
4(0,0,0,4) | Details |
| 18000903 | Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR: Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. Am J Med Genet A. 2007 Dec 15;143A(24):3144-9. |
4(0,0,0,4) | Details |
| 20034074 | Martinez-Frias ML, de Frutos CA, Bermejo E, Nieto MA: Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A(1):245-55. Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. |
4(0,0,0,4) | Details |
| 8640234 | Naski MC, Wang Q, Xu J, Ornitz DM: Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet. 1996 Jun;13(2):233-7. |
4(0,0,0,4) | Details |
| 17256796 | Santos HG, Almeida M, Fernandes H, Wilkie AO: Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. Am J Med Genet A. 2007 Feb 15;143(4):355-9. Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA) at the same codon 380, but encoding instead of the usual |
3(0,0,0,3) | Details |
| 19215249 | Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG: Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clin Genet. 2009 Feb;75(2):150-6. The presence of 10 misdiagnosed cases emphasizes the importance of performing mutation analysis of the hotspot regions responsible for both dysplasias (Ach and Hch). |
3(0,0,0,3) | Details |
| 10890199 | Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T: Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. Endocr J. 2000 Mar;47 Suppl:S121-4. |
3(0,0,0,3) | Details |
| 19622626 | Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT: Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63. Epub 2009 Jul 21. |
2(0,0,0,2) | Details |
| 19789973 | Trujillo-Tiebas MJ, Fenollar-Cortes M, Lorda-Sanchez I, Diaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C: Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. J Assist Reprod Genet. 2009 Aug;26(8):455-60. Epub 2009 Sep 30. |
2(0,0,0,2) | Details |
| 16418051 | Fano V, Gravina LP, Pino MD, Chertkoff L, Barreiro C, Lejarraga H: High specificity of head circumference to recognize N540K mutation in hypochondroplasia. Ann Hum Biol. 2005 Nov-Dec;32(6):782-8. Seventy per cent of affected individuals are heterozygous for a mutation of the FGFR3 gene. |
2(0,0,0,2) | Details |