The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
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Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defectsProteoglycans and neuronal migration in the cerebral cortex during development and diseaseHuman genetic disorders and knockout mice deficient in glycosaminoglycanXylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesisAdvances in Skeletal Dysplasia GeneticsFunctional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.First description of the complete human xylosyltransferase-I promoter regionTowards identification of molecular mechanisms of short stature.XYLT1 mutations in Desbuquois dysplasia type 2.Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.News on Clinical Details and Treatment in PGM1-CDGForward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin DysplasiasExome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
P2860
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P2860
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@en
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@nl
type
label
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@en
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@nl
prefLabel
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@en
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@nl
P2093
P2860
P1433
P1476
The missing "link": an autosom ...... hypofunctional XYLT1 mutation.
@en
P2093
Burak Durmaz
Esther Milz
Esther Pohl
Ferda Ozkinay
Filippo Beleggia
Gudrun Nürnberg
Joachim Kuhn
Julia Schreml
Katharina Keupp
Mahmut Coker
P2860
P2888
P356
10.1007/S00439-013-1351-Y
P577
2013-08-27T00:00:00Z