Identification of CANT1 mutations in Desbuquois dysplasia.
about
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisRevelation of a catalytic calcium-binding site elucidates unusual metal dependence of a human apyrasePGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeHomozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 geneCa2+-activated nucleotidase 1, a novel target gene for the transcriptional repressor DREAM (downstream regulatory element antagonist modulator), is involved in protein folding and degradation.Purinergic signalling in the musculoskeletal system.XYLT1 mutations in Desbuquois dysplasia type 2.The androgen-regulated Calcium-Activated Nucleotidase 1 (CANT1) is commonly overexpressed in prostate cancer and is tumor-biologically relevant in vitro.A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.Clinical epidemiology of skeletal dysplasias in South America.Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
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Identification of CANT1 mutations in Desbuquois dysplasia.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 22 October 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of CANT1 mutations in Desbuquois dysplasia.
@en
Identification of CANT1 mutations in Desbuquois dysplasia.
@nl
type
label
Identification of CANT1 mutations in Desbuquois dysplasia.
@en
Identification of CANT1 mutations in Desbuquois dysplasia.
@nl
prefLabel
Identification of CANT1 mutations in Desbuquois dysplasia.
@en
Identification of CANT1 mutations in Desbuquois dysplasia.
@nl
P2093
P2860
P50
P1476
Identification of CANT1 mutations in Desbuquois dysplasia.
@en
P2093
Alexander Krebs
Bénédicte Oulès
Denise P Cavalcanti
Lihadh I Al-Gazali
Margreet G E M Ausems
Marta Bertoli
Mélanie Fradin
Patrizia Paterlini-Bréchot
Yasemin Alanay
Yousef Shafeghati
P2860
P304
P356
10.1016/J.AJHG.2009.10.001
P407
P50
P577
2009-10-22T00:00:00Z