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Page 1
Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth.
Shuhaibar LC, Kaci N, Egbert JR, Horville T, Loisay L, Vigone G, Uliasz TF, Dambroise E, Swingle MR, Honkanen RE, Biosse Duplan M, Jaffe LA, Legeai-Mallet L. Shuhaibar LC, et al. Among authors: kaci n. JCI Insight. 2021 May 10;6(9):e141426. doi: 10.1172/jci.insight.141426. JCI Insight. 2021. PMID: 33986191 Free PMC article.
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
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. Lorget F, et al. Among authors: kaci n. Am J Hum Genet. 2012 Dec 7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200862 Free PMC article.
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
Di Rocco F, Biosse Duplan M, Heuzé Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L. Di Rocco F, et al. Among authors: kaci n. Hum Mol Genet. 2014 Jun 1;23(11):2914-25. doi: 10.1093/hmg/ddu004. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419316
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A. Mehawej C, et al. Among authors: kaci n. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May. PLoS Genet. 2014. PMID: 24786642 Free PMC article.
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
Cossiez Cacard MA, Coulombe J, Bernard P, Kaci N, Bressieux JM, Souchon PF, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C. Cossiez Cacard MA, et al. Among authors: kaci n. J Eur Acad Dermatol Venereol. 2016 May;30(5):897-8. doi: 10.1111/jdv.13061. Epub 2015 Mar 24. J Eur Acad Dermatol Venereol. 2016. PMID: 25809207 No abstract available.
Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.
Komla-Ebri D, Dambroise E, Kramer I, Benoist-Lasselin C, Kaci N, Le Gall C, Martin L, Busca P, Barbault F, Graus-Porta D, Munnich A, Kneissel M, Di Rocco F, Biosse-Duplan M, Legeai-Mallet L. Komla-Ebri D, et al. Among authors: kaci n. J Clin Invest. 2016 May 2;126(5):1871-84. doi: 10.1172/JCI83926. Epub 2016 Apr 11. J Clin Invest. 2016. PMID: 27064282 Free PMC article.
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.
Biosse Duplan M, Komla-Ebri D, Heuzé Y, Estibals V, Gaudas E, Kaci N, Benoist-Lasselin C, Zerah M, Kramer I, Kneissel M, Porta DG, Di Rocco F, Legeai-Mallet L. Biosse Duplan M, et al. Among authors: kaci n. Hum Mol Genet. 2016 Jul 15;25(14):2997-3010. doi: 10.1093/hmg/ddw153. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260401 Free PMC article.
Animal models of craniosynostosis.
Cornille M, Dambroise E, Komla-Ebri D, Kaci N, Biosse-Duplan M, Di Rocco F, Legeai-Mallet L. Cornille M, et al. Among authors: kaci n. Neurochirurgie. 2019 Nov;65(5):202-209. doi: 10.1016/j.neuchi.2019.09.010. Epub 2019 Sep 26. Neurochirurgie. 2019. PMID: 31563616 Review.
20 results