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Quoted phrase not found in phrase index: "Desbuquois dysplasia 1"
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Evaluation of polysomnography findings in children with genetic skeletal disorders.
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U. Nayır Büyükşahin H, et al. J Sleep Res. 2023 Oct;32(5):e13914. doi: 10.1111/jsr.13914. Epub 2023 May 1. J Sleep Res. 2023. PMID: 37128177
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep-disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal diso …
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive …
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S. Furuichi T, et al. J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037275
BACKGROUND: Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. ...Mutations in the gene that encodes for CANT1 (calcium-activated nucleotidase 1) have bee …
BACKGROUND: Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeleta …
CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.
Kodama K, Takahashi H, Oiji N, Nakano K, Okamura T, Niimi K, Takahashi E, Guo L, Ikegawa S, Furuichi T. Kodama K, et al. FEBS Open Bio. 2020 Jun;10(6):1096-1103. doi: 10.1002/2211-5463.12859. Epub 2020 Apr 23. FEBS Open Bio. 2020. PMID: 32277574 Free PMC article.
Desbuquois dysplasia (DD) type 1 is a rare skeletal dysplasia characterized by a short stature, round face, progressive scoliosis, and joint laxity. ...Cant1 KO mice exhibited skeletal defects, including short stature, thoracic kyphosis, and delta phalanx, al …
Desbuquois dysplasia (DD) type 1 is a rare skeletal dysplasia characterized by a short stature, round face, progressive …
XYLT1 mutations in Desbuquois dysplasia type 2.
Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V. Bui C, et al. Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581741 Free PMC article.
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium ac …
Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossificati …
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Paganini C, Monti L, Costantini R, Besio R, Lecci S, Biggiogera M, Tian K, Schwartz JM, Huber C, Cormier-Daire V, Gibson BG, Pirog KA, Forlino A, Rossi A. Paganini C, et al. Matrix Biol. 2019 Aug;81:70-90. doi: 10.1016/j.matbio.2018.11.002. Epub 2018 Nov 12. Matrix Biol. 2019. PMID: 30439444 Free PMC article.
Desbuquois dysplasia type 1 (DBQD1) is a chondrodysplasia caused by mutations in CANT1 gene encoding an ER/Golgi calcium activated nucleotidase 1 that hydrolyses UDP. ...Interestingly, knock-out chondrocytes had dilated ER cisternae suggesting delayed …
Desbuquois dysplasia type 1 (DBQD1) is a chondrodysplasia caused by mutations in CANT1 gene encoding an ER/Golgi calciu …
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic han …
Desbuquois dysplasia (DD) is characterized by antenatal and postnatal short stature, multiple dislocations, and advanced carpa …
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V. Huber C, et al. Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853239 Free PMC article.
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase …
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossifi …
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T. Jamsheer A, et al. J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030147
Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. ...Our study describes …
Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal …
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S. Miyake A, et al. J Hum Genet. 2008;53(8):764-768. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14. J Hum Genet. 2008. PMID: 18553123
In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited chondrodysplasia, the mutations of which have never been identified. ...Considering her clinical phenotypes and known phenotypes of p.Delta …
In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited …