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Page 1
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and a …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in …
Acanthosis nigricans in achondroplasia.
Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM. Smid CJ, et al. Am J Med Genet A. 2018 Dec;176(12):2630-2636. doi: 10.1002/ajmg.a.40506. Epub 2018 Oct 31. Am J Med Genet A. 2018. PMID: 30380187
Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. ...
Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. ...
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T. Zankl A, et al. Am J Med Genet A. 2008 Jan 15;146A(2):212-8. doi: 10.1002/ajmg.a.32085. Am J Med Genet A. 2008. PMID: 18076102
We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only …
We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigrica …
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z, Francomano CA, Wilkin DJ. Vajo Z, et al. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Endocr Rev. 2000. PMID: 10696568 Review.
Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) dysplasia, and two craniosynostosis disorders: Muenke co …
Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (sev …
SADDAN syndrome.
Kumar KV, Shaikh A, Sharma R, Prusty P. Kumar KV, et al. J Pediatr Endocrinol Metab. 2011;24(9-10):851-2. doi: 10.1515/jpem.2011.290. J Pediatr Endocrinol Metab. 2011. PMID: 22145492
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. Acanthosis nigricans is associated with these skeletal dysplasias and we recently encountered a skeletal dysplasia along with acanthosis nigricans in a …
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. Acanthosis nigricans is a …
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis n …
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGF …
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. Couser NL, et al. Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9. Am J Med Genet A. 2017. PMID: 28181399
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskelet …
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes includi …
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Manickam K, et al. Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24352917
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans …
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal d …
Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCgamma1/Src-mediated paxillin hyperphosphorylation.
Montone R, Romanelli MG, Baruzzi A, Ferrarini F, Liboi E, Lievens PM. Montone R, et al. Int J Biochem Cell Biol. 2018 Feb;95:17-26. doi: 10.1016/j.biocel.2017.12.008. Epub 2017 Dec 11. Int J Biochem Cell Biol. 2018. PMID: 29242050
K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. ...Here, we investigated th …
K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay …
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT. Alatzoglou KS, et al. J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63. doi: 10.1210/jc.2009-0322. Epub 2009 Jul 21. J Clin Endocrinol Metab. 2009. PMID: 19622626
BACKGROUND AND AIMS: Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndro …
BACKGROUND AND AIMS: Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activat …
46 results