(Q47686477)

4 February 2018

title

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation (English)

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4 February 2018

11

Peter Nürnberg

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4 February 2018

Filippo Beleggia

5

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author name string

Julia Schreml

1

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4 February 2018

Burak Durmaz

2

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4 February 2018

Ozgur Cogulu

3

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4 February 2018

Katharina Keupp

4

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4 February 2018

Esther Pohl

6

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4 February 2018

Esther Milz

7

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4 February 2018

Mahmut Coker

8

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4 February 2018

Sema Kalkan Ucar

9

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4 February 2018

Gudrun Nürnberg

10

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4 February 2018

Joachim Kuhn

12

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4 February 2018

Ferda Ozkinay

13

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4 February 2018

publication date

27 August 2013

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4 February 2018

published in

Human Genetics

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4 February 2018

volume

133

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4 February 2018

issue

1

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4 February 2018

page(s)

29-39

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4 February 2018

https://scigraph.springernature.com/pub.10.1007/s00439-013-1351-y

exact match

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cites work

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

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Molecular characterization of β1,4‐galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)

21 January 2018

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The molecular diversity of glycosaminoglycans shapes animal development.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Molecular diversity of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Influence of core protein sequence on glycosaminoglycan assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase

21 January 2018

1 reference

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Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

High xylosyltransferase activities in human follicular fluid and cultured granulosa-lutein cells

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Human xylosyltransferases in health and disease

21 January 2018

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Allegro, a new computer program for multipoint linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Deoxyribozyme-mediated knockdown of xylosyltransferase-1 mRNA promotes axon growth in the adult rat spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status

21 January 2018

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21 January 2018

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Measurement of fibrosis marker xylosyltransferase I activity by HPLC electrospray ionization tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Increased levels of xylosyltransferase I correlate with the mineralization of the extracellular matrix during osteogenic differentiation of mesenchymal stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

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Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

21 January 2018

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Perisynaptic chondroitin sulfate proteoglycans restrict structural plasticity in an integrin-dependent manner.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

The formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells correlates with increased levels of xylosyltransferase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Differences in gene expression of human xylosyltransferases and determination of acceptor specificities for various proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

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Expression of the APP gene family in brain cells, brain development and aging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

Crystal structure of the dimeric protein core of decorin, the archetypal small leucine-rich repeat proteoglycan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1351-Y

UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase: a new marker of cartilage destruction in chronic joint diseases

21 January 2018

1 reference

12 December 2020

Determination of xylosyltransferase activity in serum with recombinant human bikunin as acceptor.

1 reference

12 December 2020

GRR: graphical representation of relationship errors

1 reference

12 December 2020

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

1 reference

12 December 2020

Biosynthesis and regulation of expression of proteoglycans

1 reference

12 December 2020

Biosynthesis of the chondroitin sulfate proteoglycan. Purification and properties of xylosyltransferase

1 reference

12 December 2020

1 reference

12 December 2020

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

1 reference

12 December 2020

10.1007/S00439-013-1351-Y

Identifiers

DOI

1 reference

4 February 2018

1 reference

4 February 2018