CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
about
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisChondrodysplasia 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.XYLT1 mutations in Desbuquois dysplasia type 2.Quantitative toxicoproteomic analysis of zebrafish embryos exposed to a retinoid X receptor antagonist UVI3003.A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.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.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.Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
P2860
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P2860
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
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2010年學術文章
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2010年學術文章
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name
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@en
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@nl
type
label
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@en
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@nl
prefLabel
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@en
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@nl
P2093
P356
P1476
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
@en
P2093
Andrea Superti-Furga
Gen Nishimura
Hirofumi Ohashi
Masahide Ikema
Naomichi Matsumoto
Noriko Miyake
Ok-Hwa Kim
Satoru Sakazume
Sheila Unger
P356
10.1136/JMG.2010.080226
P407
P577
2010-10-30T00:00:00Z